CHR POS REF ALT ANN 12242 15444 16413 16517 17199 18385 19181 19348 26988 28246 9841 FR07886403 FR07886404 FR07886405 FR07886406 FR07886407 FR07886408 FR07886409 FR07886410 FR07886411 FR07886412 FR07886413 FR07886414 FR07886415 FR07886416 FR07886417 FR07886418 FR07886419 FR07886420 FR07886421 FR07886422 FR07886423 FR07886424 FR07886425 FR07886426 FR07918860 FR07918874 FR07918876 FR07918877 FR07918879 FR07918881 FR07918882 FR07918883 FR07918884 FR07919100 FR07919116 FR07919118 FR07919164 FR07919257 FR07919258 FR07919259 FR07919260 FR07919263 FR07919264 FR07919265 FR07919266 FR07919267 FR07919268 FR07919462 FR07919467 FR07921203 FR07921206 FR07921212 FR07921215 FR07921218 FR07921221 FR07921226 FR07921230 FR07921233 FR07921235 FR07921237 FR07921240 FR07921241 FR07921242 FR07921245 FR07921246 FR07921249 FR07921250 FR07921251 FR07921258 FR07921261 FR07921262 FR07921265 FR07921266 FR07921270 FR07921272 FR07921573 FR07921574 FR07921575 FR07921577 FR07921581 FR07937948 FR07937951 FR07937952 FR07937953 FR07937955 FR07937956 FR07937957 FR07937989 FR07937990 1 413781 G A A|stop_gained|HIGH|ENSPANG00000024438|ENSPANG00000024438|transcript|ENSPANT00000006250.1|protein_coding|4/4|c.196C>T|p.Arg66*|196/315|196/315|66/104||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 2 0 1 0 0 1 0 0 1 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 2 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 2 0 1 0 2 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 752217 C T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|MSANTD1|ENSPANG00000012405|transcript|ENSPANT00000008655.1|protein_coding|1/3|c.37-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1013680 C T T|splice_donor_variant&intron_variant|HIGH|GRK4|ENSPANG00000015062|transcript|ENSPANT00000009488.1|protein_coding|1/16|c.29+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000012490|ENSPANG00000012490|transcript|ENSPANT00000000896.1|miRNA||n.-2866C>T|||||2866|,T|intron_variant|MODIFIER|GRK4|ENSPANG00000015062|transcript|ENSPANT00000004474.2|protein_coding|1/15|c.53-126G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 2 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 2 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 1 1162549 A C C|splice_donor_variant&intron_variant|HIGH|ADD1|ENSPANG00000018890|transcript|ENSPANT00000028647.1|protein_coding|1/14|c.-21+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 NA 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 NA NA 0 0 NA 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 1 1987483 G T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000006016|ENSPANG00000006016|transcript|ENSPANT00000010834.1|protein_coding|1/2|c.39+1C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 3429901 G A A|splice_acceptor_variant&intron_variant|HIGH|PDE6B|ENSPANG00000019722|transcript|ENSPANT00000009624.1|protein_coding|13/22|c.1700-2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 3628664 C T T|splice_acceptor_variant&intron_variant|HIGH|ZNF721|ENSPANG00000017246|transcript|ENSPANT00000004094.1|protein_coding|4/8|c.198-1C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ZNF721|ENSPANG00000017246|transcript|ENSPANT00000023919.1|protein_coding|2/2|c.131-356C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 4413527 A G G|splice_donor_variant&intron_variant|HIGH|ANKRD65|ENSPANG00000017689|transcript|ENSPANT00000020459.1|protein_coding|5/5|c.753+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 2 1 1 1 0 1 2 1 1 2 0 2 1 1 0 1 2 1 2 0 0 1 0 1 0 2 1 1 2 2 0 1 2 0 2 0 2 0 0 1 2 2 1 1 0 1 2 0 1 0 1 0 1 1 2 1 0 1 0 1 1 2 1 0 1 2 1 0 2 1 2 0 1 2 2 2 2 0 1 1 1 0 2 1 1 2 2 1 2 2 2 1 1 1 1 1 2 2 2 1 1 6721017 C G G|stop_gained|HIGH|DFFB|ENSPANG00000016780|transcript|ENSPANT00000014820.1|protein_coding|2/7|c.147C>G|p.Tyr49*|147/1014|147/1014|49/337|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 8696809 T C C|splice_acceptor_variant&intron_variant|HIGH|NPHP4|ENSPANG00000009081|transcript|ENSPANT00000000259.1|protein_coding|27/28|c.3997-2A>G||||||,C|upstream_gene_variant|MODIFIER|ENSPANG00000000079|ENSPANG00000000079|transcript|ENSPANT00000020040.1|miRNA||n.-1280A>G|||||1280| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 10629622 G C C|splice_donor_variant&intron_variant|HIGH|PER3|ENSPANG00000004699|transcript|ENSPANT00000005248.2|protein_coding|1/22|c.-194+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|PER3|ENSPANG00000004699|transcript|ENSPANT00000020110.1|protein_coding|1/21|c.-194+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 1 0 2 0 0 0 1 0 0 1 2 0 0 1 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 2 1 0 1 NA 0 0 0 1 0 0 1 1 NA 0 0 0 NA 0 2 0 NA 1 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 1 11759584 G A A|stop_gained|HIGH|ENSPANG00000000528|ENSPANG00000000528|transcript|ENSPANT00000005247.1|protein_coding|2/3|c.200G>A|p.Trp67*|200/480|200/480|67/159||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 11759790 C T T|stop_gained|HIGH|ENSPANG00000000528|ENSPANG00000000528|transcript|ENSPANT00000005247.1|protein_coding|3/3|c.394C>T|p.Gln132*|394/480|394/480|132/159||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 2 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 12513472 G A A|stop_gained|HIGH|ENSPANG00000013404|ENSPANG00000013404|transcript|ENSPANT00000019872.1|protein_coding|1/2|c.145C>T|p.Gln49*|145/501|145/501|49/166||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 14632231 C T T|stop_gained|HIGH|C1orf167|ENSPANG00000026085|transcript|ENSPANT00000001695.1|protein_coding|15/25|c.3037C>T|p.Arg1013*|3037/3810|3037/3810|1013/1269||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 14635269 C T T|splice_donor_variant&intron_variant|HIGH|C1orf167|ENSPANG00000026085|transcript|ENSPANT00000001695.1|protein_coding|21/24|c.3451+1C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|MTHFR|ENSPANG00000002434|transcript|ENSPANT00000011116.1|protein_coding||c.*2451G>A|||||2451| 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 2 0 0 0 0 1 1 1 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 1 0 2 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 1 0 1 1 1 0 0 1 14822049 C T T|stop_gained|HIGH|PLOD1|ENSPANG00000009766|transcript|ENSPANT00000008715.1|protein_coding|16/16|c.1852C>T|p.Arg618*|1852/3966|1852/1884|618/627|| 1 0 0 1 0 0 0 0 1 1 0 0 0 1 1 0 1 0 0 2 0 0 1 0 1 0 1 1 0 0 1 1 1 1 0 0 1 1 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 2 1 0 1 0 0 1 1 1 2 0 1 0 0 1 1 0 0 0 0 0 2 0 0 0 1 0 0 1 1 0 1 0 1 1 0 1 0 0 1 1 1 1 0 1 17870221 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000025441|ENSPANG00000025441|transcript|ENSPANT00000028866.1|protein_coding|1/7|c.67+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|EFHD2|ENSPANG00000021488|transcript|ENSPANT00000006344.1|protein_coding|3/3|c.591+7835G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 17872258 G T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025441|ENSPANG00000025441|transcript|ENSPANT00000028866.1|protein_coding|2/7|c.160-1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EFHD2|ENSPANG00000021488|transcript|ENSPANT00000006344.1|protein_coding|3/3|c.591+9872G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 17939007 G A A|stop_gained|HIGH|ENSPANG00000014289|ENSPANG00000014289|transcript|ENSPANT00000004611.1|protein_coding|4/4|c.425G>A|p.Trp142*|563/603|425/465|142/154|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 18899360 A G G|splice_acceptor_variant&intron_variant|HIGH|NECAP2|ENSPANG00000008747|transcript|ENSPANT00000016199.1|protein_coding|2/8|c.194-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 19236591 G A A|splice_acceptor_variant&intron_variant|HIGH|CROCC|ENSPANG00000018163|transcript|ENSPANT00000016789.1|protein_coding|34/36|c.5656-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|CROCC|ENSPANG00000018163|transcript|ENSPANT00000016784.2|protein_coding|35/37|c.5491-1G>A||||||,A|downstream_gene_variant|MODIFIER|MFAP2|ENSPANG00000014463|transcript|ENSPANT00000007620.1|protein_coding||c.*4501C>T|||||2390| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 21554169 G C C|splice_donor_variant&intron_variant|HIGH|MRTO4|ENSPANG00000017838|transcript|ENSPANT00000001642.1|protein_coding|4/7|c.276+1G>C||||||,C|upstream_gene_variant|MODIFIER|EMC1|ENSPANG00000004804|transcript|ENSPANT00000025287.1|protein_coding||c.-4730C>G|||||4730|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|AKR7L|ENSPANG00000011146|transcript|ENSPANT00000005471.1|protein_coding||c.*3609C>G|||||1038| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 NA 0 1 0 0 1 0 1 21622891 C T T|splice_donor_variant&intron_variant|HIGH|PQLC2|ENSPANG00000011018|transcript|ENSPANT00000002752.1|protein_coding|7/7|c.816+2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 23960046 A G G|splice_donor_variant&intron_variant|HIGH|USP48|ENSPANG00000017055|transcript|ENSPANT00000008346.1|protein_coding|10/29|c.1247+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 26088385 G A A|stop_gained|HIGH|FUCA1|ENSPANG00000006868|transcript|ENSPANT00000026600.1|protein_coding|1/8|c.166C>T|p.Arg56*|166/3496|166/1710|56/569|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 27962429 G T T|splice_donor_variant&intron_variant|HIGH|SEPN1|ENSPANG00000020847|transcript|ENSPANT00000022545.1|protein_coding|7/17|c.396+1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 2 0 0 0 1 2 0 0 0 0 0 0 1 0 1 0 0 1 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 2 0 0 0 1 0 1 28489288 A G G|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|CD52|ENSPANG00000013297|transcript|ENSPANT00000009913.1|protein_coding|2/2|c.96+1A>G||||||,G|upstream_gene_variant|MODIFIER|UBXN11|ENSPANG00000011558|transcript|ENSPANT00000012123.1|protein_coding||c.-2102T>C|||||2102|,G|downstream_gene_variant|MODIFIER|AIM1L|ENSPANG00000000188|transcript|ENSPANT00000012122.1|protein_coding||c.*1750T>C|||||1750| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 30158112 T G G|stop_gained|HIGH|SMPDL3B|ENSPANG00000007129|transcript|ENSPANT00000009337.1|protein_coding|3/11|c.327T>G|p.Tyr109*|327/1293|327/1293|109/430||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 30419591 C T T|stop_gained|HIGH|ENSPANG00000002587|ENSPANG00000002587|transcript|ENSPANT00000023593.1|protein_coding|1/1|c.100C>T|p.Arg34*|140/677|100/141|34/46||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ENSPANG00000012833|ENSPANG00000012833|transcript|ENSPANT00000025921.1|protein_coding||c.*423G>A|||||423|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 NA 0 1 0 0 1 1 1 0 1 1 0 0 1 0 0 0 0 NA NA 0 1 0 0 0 0 0 1 0 NA 0 NA 0 1 0 1 NA 1 30432079 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000012833|ENSPANG00000012833|transcript|ENSPANT00000025921.1|protein_coding|6/12|c.295+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 30682572 T G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000017832|ENSPANG00000017832|transcript|ENSPANT00000027192.1|protein_coding|2/4|c.353+2T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 2 0 0 0 0 0 0 0 0 2 0 0 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 0 1 31455929 A G G|splice_acceptor_variant&intron_variant|HIGH|MECR|ENSPANG00000007687|transcript|ENSPANT00000021982.1|protein_coding|6/14|c.373-1T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 39965662 T C C|splice_donor_variant&intron_variant|HIGH|C1orf109|ENSPANG00000010241|transcript|ENSPANT00000001432.1|protein_coding|2/5|c.-4+1A>G||||||,C|upstream_gene_variant|MODIFIER|CDCA8|ENSPANG00000025284|transcript|ENSPANT00000001436.1|protein_coding||c.-1232T>C|||||935| 2 2 2 2 2 2 2 2 2 2 2 2 0 2 1 0 2 2 2 2 1 2 2 2 2 2 1 2 2 2 2 2 2 2 1 2 2 2 0 1 2 2 1 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 1 2 0 2 2 2 2 1 2 1 2 2 2 2 0 2 2 2 2 2 2 2 1 1 42565948 G A A|splice_donor_variant&intron_variant|HIGH|SMAP2|ENSPANG00000018450|transcript|ENSPANT00000019821.1|protein_coding|1/9|c.52+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|SMAP2|ENSPANG00000018450|transcript|ENSPANT00000019822.2|protein_coding|1/9|c.104-1156G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 43050959 G A A|stop_gained|HIGH|ENSPANG00000005468|ENSPANG00000005468|transcript|ENSPANT00000006357.1|protein_coding|1/1|c.337C>T|p.Arg113*|337/498|337/498|113/165||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 44190559 C T T|stop_gained|HIGH|ENSPANG00000023476|ENSPANG00000023476|transcript|ENSPANT00000019818.1|protein_coding|1/3|c.415C>T|p.Gln139*|415/1131|415/1131|139/376||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 44799778 C T T|stop_gained|HIGH|CCDC30|ENSPANG00000003497|transcript|ENSPANT00000019010.1|protein_coding|16/21|c.1909C>T|p.Arg637*|1909/2424|1909/2298|637/765|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 44800100 A G G|splice_acceptor_variant&intron_variant|HIGH|CCDC30|ENSPANG00000003497|transcript|ENSPANT00000019010.1|protein_coding|16/20|c.1915-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 44800143 G A A|splice_donor_variant&intron_variant|HIGH|CCDC30|ENSPANG00000003497|transcript|ENSPANT00000019010.1|protein_coding|17/20|c.1955+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 0 1 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 0 1 45285132 G A A|stop_gained|HIGH|ENSPANG00000023559|ENSPANG00000023559|transcript|ENSPANT00000015203.1|protein_coding|6/6|c.1219C>T|p.Gln407*|1219/1542|1219/1542|407/513||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 1 0 1 1 1 0 0 0 0 0 1 0 0 1 0 0 0 0 2 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 0 0 0 1 0 0 0 0 0 1 1 45286377 G A A|stop_gained|HIGH|ENSPANG00000023559|ENSPANG00000023559|transcript|ENSPANT00000015203.1|protein_coding|4/6|c.412C>T|p.Gln138*|412/1542|412/1542|138/513||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 1 0 1 1 1 0 0 0 0 0 1 0 0 1 0 0 0 0 2 0 2 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 0 0 0 1 0 0 0 0 0 1 1 45446594 A T T|stop_gained|HIGH|FAM183A|ENSPANG00000015927|transcript|ENSPANT00000015207.1|protein_coding|1/4|c.76A>T|p.Arg26*|93/2649|76/465|26/154|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 47105604 T C C|start_lost|HIGH|BEST4|ENSPANG00000009318|transcript|ENSPANT00000025059.1|protein_coding|1/9|c.1A>G|p.Met1?|378/1896|1/1518|1/505|| 1 2 1 1 2 0 0 1 2 1 1 2 2 2 1 2 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 0 2 2 2 2 2 2 2 1 0 1 2 2 1 1 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 0 2 2 0 1 2 1 2 2 2 2 2 2 1 2 2 2 1 2 2 1 47403722 G A A|stop_gained|HIGH|ZSWIM5|ENSPANG00000009059|transcript|ENSPANT00000020520.1|protein_coding|2/14|c.82C>T|p.Arg28*|174/3053|82/2961|28/986||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 47802756 G A A|splice_acceptor_variant&intron_variant|HIGH|AKR1A1|ENSPANG00000005968|transcript|ENSPANT00000008780.1|protein_coding|2/9|c.-6-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 48263200 G T T|splice_donor_variant&intron_variant|HIGH|MAST2|ENSPANG00000013684|transcript|ENSPANT00000026347.1|protein_coding|6/29|c.668+1G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 48452046 A T T|stop_gained|HIGH|TSPAN1|ENSPANG00000005967|transcript|ENSPANT00000027135.1|protein_coding|6/8|c.493A>T|p.Arg165*|633/863|493/723|165/240||,T|downstream_gene_variant|MODIFIER|POMGNT1|ENSPANG00000008891|transcript|ENSPANT00000005099.1|protein_coding||c.*3913T>A|||||3885| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 48539008 C T T|stop_gained|HIGH|RAD54L|ENSPANG00000016295|transcript|ENSPANT00000013214.1|protein_coding|16/18|c.1816C>T|p.Arg606*|2099/5731|1816/2265|606/754||,T|stop_gained|HIGH|RAD54L|ENSPANG00000016295|transcript|ENSPANT00000009907.2|protein_coding|16/19|c.1816C>T|p.Arg606*|2099/5729|1816/2241|606/746||,T|downstream_gene_variant|MODIFIER|LRRC41|ENSPANG00000004655|transcript|ENSPANT00000012029.1|protein_coding||c.*4081G>A|||||4081| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 48929191 C A A|splice_acceptor_variant&intron_variant|HIGH|EFCAB14|ENSPANG00000008381|transcript|ENSPANT00000023866.2|protein_coding|6/13|c.796-1G>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|EFCAB14|ENSPANG00000008381|transcript|ENSPANT00000001610.1|protein_coding|6/8|c.796-1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 49030971 C T T|stop_gained|HIGH|CYP4B1|ENSPANG00000005048|transcript|ENSPANT00000005114.1|protein_coding|2/12|c.184C>T|p.Gln62*|314/1666|184/1536|62/511|| 2 1 1 1 1 1 1 1 1 1 2 1 1 2 0 1 0 1 1 0 0 1 0 1 0 0 1 0 1 0 0 1 0 0 2 0 0 0 2 1 1 1 1 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 1 1 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 1 49081529 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000004653|ENSPANG00000004653|transcript|ENSPANT00000000610.1|protein_coding|2/11|c.338-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 49163795 T C C|start_lost|HIGH|CYP4X1|ENSPANG00000009894|transcript|ENSPANT00000009299.2|protein_coding|1/12|c.1A>G|p.Met1?|1/4676|1/1530|1/509||,C|intron_variant|MODIFIER|CYP4X1|ENSPANG00000009894|transcript|ENSPANT00000012522.1|protein_coding|1/11|c.70-7152A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 49462165 T C C|start_lost|HIGH|STIL|ENSPANG00000020258|transcript|ENSPANT00000010393.1|protein_coding|1/16|c.1A>G|p.Met1?|17/5846|1/3222|1/1073||,C|missense_variant|MODERATE|STIL|ENSPANG00000020258|transcript|ENSPANT00000001708.2|protein_coding|2/16|c.64A>G|p.Met22Val|64/6475|64/3867|22/1288|| 1 0 1 1 0 2 2 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 2 0 0 0 1 0 0 1 2 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 2 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 1 1 53933799 A G G|stop_lost&splice_region_variant|HIGH|NRDC|ENSPANG00000017224|transcript|ENSPANT00000007612.1|protein_coding|31/31|c.3352T>C|p.Ter1118Glnext*?|3526/3528|3352/3354|1118/1117||,G|intron_variant|MODIFIER|OSBPL9|ENSPANG00000005884|transcript|ENSPANT00000027411.2|protein_coding|11/22|c.875+3023A>G||||||,G|intron_variant|MODIFIER|OSBPL9|ENSPANG00000005884|transcript|ENSPANT00000027412.1|protein_coding|13/24|c.818+3023A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 2 1 0 0 0 0 1 1 0 1 1 0 0 0 1 0 0 0 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 55302888 C T T|stop_gained|HIGH|PODN|ENSPANG00000023363|transcript|ENSPANT00000001725.1|protein_coding|8/8|c.1552C>T|p.Arg518*|1552/1575|1552/1575|518/524|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 56224081 C T T|splice_donor_variant&intron_variant|HIGH|LDLRAD1|ENSPANG00000006219|transcript|ENSPANT00000006754.1|protein_coding|4/5|c.340+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 56267237 T C C|splice_donor_variant&intron_variant|HIGH|TCEANC2|ENSPANG00000015001|transcript|ENSPANT00000027425.1|protein_coding|1/5|c.77+2T>C||||||,C|upstream_gene_variant|MODIFIER|TMEM59|ENSPANG00000009260|transcript|ENSPANT00000027835.1|protein_coding||c.-1298A>G|||||981|,C|upstream_gene_variant|MODIFIER|TMEM59|ENSPANG00000009260|transcript|ENSPANT00000027834.2|protein_coding||c.-1298A>G|||||981|,C|downstream_gene_variant|MODIFIER|ENSPANG00000002683|ENSPANG00000002683|transcript|ENSPANT00000028729.1|miRNA||n.*337T>C|||||337| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 56354606 G A A|stop_gained|HIGH|CDCP2|ENSPANG00000015482|transcript|ENSPANT00000014147.1|protein_coding|6/7|c.1165C>T|p.Gln389*|1165/1335|1165/1335|389/444||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 56824821 C A A|stop_gained|HIGH|FAM151A|ENSPANG00000003399|transcript|ENSPANT00000009225.1|protein_coding|6/9|c.829G>T|p.Gly277*|829/1881|829/1881|277/626||,A|intron_variant|MODIFIER|ENSPANG00000012479|ENSPANG00000012479|transcript|ENSPANT00000009222.1|protein_coding|15/15|c.1629+4467C>A||||||,A|intron_variant|MODIFIER|ENSPANG00000012479|ENSPANG00000012479|transcript|ENSPANT00000009221.2|protein_coding|15/15|c.1629+4467C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 56824854 G A A|stop_gained|HIGH|FAM151A|ENSPANG00000003399|transcript|ENSPANT00000009225.1|protein_coding|6/9|c.796C>T|p.Arg266*|796/1881|796/1881|266/626||,A|intron_variant|MODIFIER|ENSPANG00000012479|ENSPANG00000012479|transcript|ENSPANT00000009222.1|protein_coding|15/15|c.1629+4500G>A||||||,A|intron_variant|MODIFIER|ENSPANG00000012479|ENSPANG00000012479|transcript|ENSPANT00000009221.2|protein_coding|15/15|c.1629+4500G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 59102858 C T T|splice_acceptor_variant&intron_variant|HIGH|C8B|ENSPANG00000024233|transcript|ENSPANT00000010185.2|protein_coding|10/12|c.1553-1G>A||||||,T|intron_variant|MODIFIER|C8B|ENSPANG00000024233|transcript|ENSPANT00000022892.1|protein_coding|10/11|c.1553-479G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 62062752 C A A|stop_gained|HIGH|CYP2J2|ENSPANG00000004798|transcript|ENSPANT00000002786.1|protein_coding|1/9|c.184G>T|p.Glu62*|184/3179|184/1509|62/502|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 63818262 C T T|splice_donor_variant&intron_variant|HIGH|TM2D1|ENSPANG00000006216|transcript|ENSPANT00000002795.1|protein_coding|1/6|c.301+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 64210352 C T T|stop_gained|HIGH|PATJ|ENSPANG00000016676|transcript|ENSPANT00000010184.1|protein_coding|37/42|c.4996C>T|p.Arg1666*|5031/5459|4996/5424|1666/1807|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 64500641 C T T|stop_gained|HIGH|ENSPANG00000011286|ENSPANG00000011286|transcript|ENSPANT00000003589.1|protein_coding|1/1|c.124C>T|p.Arg42*|124/591|124/591|42/196|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 66937649 G A A|stop_gained&splice_region_variant|HIGH|JAK1|ENSPANG00000001284|transcript|ENSPANT00000006705.1|protein_coding|7/27|c.694C>T|p.Gln232*|694/4081|694/3456|232/1151||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 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T|splice_donor_variant&intron_variant|HIGH|RABGGTB|ENSPANG00000026215|transcript|ENSPANT00000007005.1|protein_coding|8/8|c.855+2C>T||||||,T|downstream_gene_variant|MODIFIER|SNORD45|ENSPANG00000008575|transcript|ENSPANT00000023837.1|snoRNA||n.*4858C>T|||||4858| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 79974234 C T T|stop_gained|HIGH|MIGA1|ENSPANG00000022967|transcript|ENSPANT00000028258.1|protein_coding|16/16|c.1894C>T|p.Gln632*|2005/5042|1894/1899|632/632||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 83892510 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000015546|ENSPANG00000015546|transcript|ENSPANT00000025711.1|protein_coding|5/5|c.960+1T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ADGRL2|ENSPANG00000007567|transcript|ENSPANT00000010726.1|protein_coding|2/22|c.74-27579T>C|||||| 0 1 1 1 1 0 0 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 2 0 0 0 1 0 1 85888875 C T T|stop_gained|HIGH|MCOLN3|ENSPANG00000006002|transcript|ENSPANT00000008083.1|protein_coding|1/12|c.162G>A|p.Trp54*|164/1664|162/1662|54/553||,T|intron_variant|MODIFIER|WDR63|ENSPANG00000000769|transcript|ENSPANT00000029142.1|protein_coding|1/21|c.35-28189C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 87334043 C G G|stop_gained|HIGH|CLCA4|ENSPANG00000002387|transcript|ENSPANT00000028596.1|protein_coding|7/15|c.1134C>G|p.Tyr378*|1314/6964|1134/2577|378/858||,G|downstream_gene_variant|MODIFIER|ENSPANG00000027827|ENSPANG00000027827|transcript|ENSPANT00000030241.1|lincRNA||n.*1909G>C|||||1909| 1 1 1 1 1 2 0 0 2 1 1 0 1 1 0 0 0 0 1 1 1 1 1 1 0 1 0 1 1 2 0 1 0 1 1 1 0 0 0 1 1 0 0 1 1 0 0 2 2 0 2 0 2 2 1 0 1 0 1 2 0 0 0 0 1 1 0 1 2 2 2 1 2 1 0 0 1 0 2 0 2 2 0 1 0 1 1 0 1 0 0 1 2 1 0 1 1 1 2 0 1 87381638 C T T|stop_gained|HIGH|ENSPANG00000003122|ENSPANG00000003122|transcript|ENSPANT00000028595.1|protein_coding|1/2|c.133C>T|p.Arg45*|133/738|133/738|45/245||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ENSPANG00000027827|ENSPANG00000027827|transcript|ENSPANT00000030241.1|lincRNA|1/1|n.650+11881G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 1 87381816 T A A|stop_gained|HIGH|ENSPANG00000003122|ENSPANG00000003122|transcript|ENSPANT00000028595.1|protein_coding|1/2|c.311T>A|p.Leu104*|311/738|311/738|104/245||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|ENSPANG00000027827|ENSPANG00000027827|transcript|ENSPANT00000030241.1|lincRNA|1/1|n.650+11703A>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 87399687 G T T|stop_gained|HIGH|ENSPANG00000004994|ENSPANG00000004994|transcript|ENSPANT00000009707.1|protein_coding|1/14|c.136G>T|p.Glu46*|136/2712|136/2712|46/903|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 87421631 C A A|stop_gained|HIGH|ENSPANG00000004994|ENSPANG00000004994|transcript|ENSPANT00000009707.1|protein_coding|14/14|c.2579C>A|p.Ser860*|2579/2712|2579/2712|860/903|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 89682873 C T T|splice_acceptor_variant&intron_variant|HIGH|KYAT3|ENSPANG00000007504|transcript|ENSPANT00000003264.2|protein_coding|6/13|c.667-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|KYAT3|ENSPANG00000007504|transcript|ENSPANT00000017148.1|protein_coding|6/11|c.667-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 93483099 G C C|stop_gained|HIGH|EVI5|ENSPANG00000012749|transcript|ENSPANT00000009267.1|protein_coding|20/20|c.2468C>G|p.Ser823*|3363/3376|2468/2481|823/826|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 94786009 C T T|stop_gained|HIGH|ENSPANG00000016856|ENSPANG00000016856|transcript|ENSPANT00000011953.1|protein_coding|1/1|c.67C>T|p.Arg23*|67/891|67/891|23/296||,T|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000028839|ENSPANG00000028839|transcript|ENSPANT00000030175.1|lincRNA|2/2|n.517G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 2 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 2 0 1 94786681 C T T|stop_gained|HIGH|ENSPANG00000016856|ENSPANG00000016856|transcript|ENSPANT00000011953.1|protein_coding|1/1|c.739C>T|p.Arg247*|739/891|739/891|247/296||,T|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000028839|ENSPANG00000028839|transcript|ENSPANT00000030175.1|lincRNA|1/2|n.223G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 95821239 C A A|stop_gained|HIGH|SLC44A3|ENSPANG00000015206|transcript|ENSPANT00000028311.1|protein_coding|5/17|c.479C>A|p.Ser160*|583/2066|479/1962|160/653|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 100962057 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000011613|ENSPANG00000011613|transcript|ENSPANT00000014292.1|protein_coding|28/40|c.3516-2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 110925061 G A A|splice_donor_variant&intron_variant|HIGH|STRIP1|ENSPANG00000005602|transcript|ENSPANT00000013965.1|protein_coding|4/22|c.390+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 112105898 G A A|stop_gained|HIGH|CHI3L2|ENSPANG00000004608|transcript|ENSPANT00000001429.1|protein_coding|8/11|c.755G>A|p.Trp252*|755/1425|755/1173|252/390|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 112170898 G A A|splice_acceptor_variant&intron_variant|HIGH|CHIA|ENSPANG00000015724|transcript|ENSPANT00000005007.1|protein_coding|8/12|c.730-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 112171085 C T T|splice_donor_variant&intron_variant|HIGH|CHIA|ENSPANG00000015724|transcript|ENSPANT00000005007.1|protein_coding|10/12|c.912+2C>T|||||| 0 0 0 0 NA 0 0 0 0 0 0 2 0 1 1 0 1 1 1 0 0 0 0 1 0 2 0 1 1 2 1 0 0 1 1 1 1 1 0 1 1 1 1 0 1 0 1 1 0 1 1 0 0 1 0 0 0 0 1 0 0 2 0 1 0 1 0 1 2 0 2 0 0 1 1 1 2 1 2 0 0 0 1 0 1 0 0 1 0 0 1 0 2 0 2 1 0 0 2 1 1 112172777 C A A|stop_gained|HIGH|CHIA|ENSPANG00000015724|transcript|ENSPANT00000005007.1|protein_coding|13/13|c.1332C>A|p.Cys444*|1332/1413|1332/1413|444/470|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 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A|stop_gained|HIGH|TTF2|ENSPANG00000012432|transcript|ENSPANT00000021065.1|protein_coding|5/26|c.362G>A|p.Trp121*|362/3510|362/3510|121/1169|| 2 1 2 2 1 2 2 1 2 2 1 2 2 2 2 2 2 1 2 1 1 2 1 2 2 2 2 2 2 2 2 1 1 1 1 2 1 1 2 2 2 1 2 2 2 2 0 2 0 1 1 2 2 1 2 2 1 2 1 2 1 2 0 2 2 1 1 2 2 2 2 1 2 2 1 2 2 2 2 2 0 2 1 2 0 1 0 2 1 1 2 2 2 2 2 2 2 0 2 2 1 118400087 C T T|stop_gained&splice_region_variant|HIGH|FAM46C|ENSPANG00000005228|transcript|ENSPANT00000025640.1|protein_coding|1/2|c.490C>T|p.Gln164*|490/1695|490/1695|164/564|| 0 1 1 1 1 1 1 1 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 1 0 0 0 0 0 1 1 0 1 0 0 1 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 1 0 0 0 0 2 0 0 0 0 0 0 1 120175285 C T T|stop_gained|HIGH|HAO2|ENSPANG00000004481|transcript|ENSPANT00000013683.1|protein_coding|5/8|c.667C>T|p.Arg223*|667/1077|667/1077|223/358|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 120376039 C T T|stop_gained|HIGH|PSMC6|ENSPANG00000017026|transcript|ENSPANT00000000457.1|protein_coding|1/1|c.265C>T|p.Gln89*|265/1176|265/1176|89/391||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 2 0 0 0 0 NA 0 1 NA 0 0 NA 0 0 NA 0 NA 0 1 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 NA 0 0 NA 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 1 NA 1 0 0 0 0 NA 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 0 1 120376285 A T T|stop_gained|HIGH|PSMC6|ENSPANG00000017026|transcript|ENSPANT00000000457.1|protein_coding|1/1|c.511A>T|p.Lys171*|511/1176|511/1176|171/391||WARNING_TRANSCRIPT_NO_START_CODON 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 NA NA 0 NA 1 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 NA 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 1 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 120652568 G A A|stop_gained|HIGH|ENSPANG00000002792|ENSPANG00000002792|transcript|ENSPANT00000007460.1|protein_coding|4/12|c.310C>T|p.Arg104*|310/1443|310/1443|104/480||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 1 120654345 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000002792|ENSPANG00000002792|transcript|ENSPANT00000007460.1|protein_coding|2/11|c.177+1G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 0 1 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 121571759 G A A|start_lost|HIGH|ENSPANG00000003116|ENSPANG00000003116|transcript|ENSPANT00000002841.1|protein_coding|1/3|c.3G>A|p.Met1?|3/1140|3/1140|1/379||,A|upstream_gene_variant|MODIFIER|ITGA10|ENSPANG00000004930|transcript|ENSPANT00000002839.2|protein_coding||c.-711C>T|||||711| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 2 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 126411780 C G G|stop_gained|HIGH|ENSPANG00000001479|ENSPANG00000001479|transcript|ENSPANT00000012800.1|protein_coding|1/1|c.186C>G|p.Tyr62*|186/561|186/561|62/186|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 127434128 C T T|stop_gained|HIGH|CHTOP|ENSPANG00000007819|transcript|ENSPANT00000011513.1|protein_coding|3/5|c.310C>T|p.Arg104*|327/5167|310/750|104/249|| 0 0 0 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T|stop_gained|HIGH|CREB3L4|ENSPANG00000006363|transcript|ENSPANT00000022947.2|protein_coding|9/10|c.955C>T|p.Arg319*|1043/1276|955/1188|319/395||,T|downstream_gene_variant|MODIFIER|JTB|ENSPANG00000008316|transcript|ENSPANT00000005833.1|protein_coding||c.*1009G>A|||||1009|,T|intron_variant|MODIFIER|CREB3L4|ENSPANG00000006363|transcript|ENSPANT00000022948.1|protein_coding|9/9|c.995-195C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 128062767 G A A|splice_acceptor_variant&intron_variant|HIGH|UBAP2L|ENSPANG00000017621|transcript|ENSPANT00000018420.1|protein_coding|15/27|c.1677-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 129069991 G A 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T|stop_gained&splice_region_variant|HIGH|ENSPANG00000023522|ENSPANG00000023522|transcript|ENSPANT00000004949.1|protein_coding|5/6|c.972C>A|p.Cys324*|972/1014|972/1014|324/337||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 132162047 G A A|stop_gained|HIGH|ENSPANG00000023522|ENSPANG00000023522|transcript|ENSPANT00000004949.1|protein_coding|2/6|c.124C>T|p.Arg42*|124/1014|124/1014|42/337||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 132162051 C T T|stop_gained|HIGH|ENSPANG00000023522|ENSPANG00000023522|transcript|ENSPANT00000004949.1|protein_coding|2/6|c.120G>A|p.Trp40*|120/1014|120/1014|40/337||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 132498219 C A A|stop_gained|HIGH|OR10Z1|ENSPANG00000009380|transcript|ENSPANT00000010585.1|protein_coding|1/2|c.728C>A|p.Ser243*|728/951|728/951|243/316||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SPTA1|ENSPANG00000005568|transcript|ENSPANT00000004948.1|protein_coding||c.*4075G>T|||||3340| 0 0 0 0 0 0 0 1 1 1 0 0 0 0 1 2 0 1 1 1 0 1 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 1 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 1 132680576 G C C|stop_gained|HIGH|OR6N2|ENSPANG00000001580|transcript|ENSPANT00000019381.1|protein_coding|1/1|c.339C>G|p.Tyr113*|339/948|339/948|113/315||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 132947258 C T T|splice_acceptor_variant&intron_variant|HIGH|AIM2|ENSPANG00000022416|transcript|ENSPANT00000001426.2|protein_coding|4/7|c.484-1G>A||||||,T|intron_variant|MODIFIER|AIM2|ENSPANG00000022416|transcript|ENSPANT00000004947.1|protein_coding|2/4|c.397-507G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 133851637 A T T|stop_gained|HIGH|SLAMF9|ENSPANG00000022213|transcript|ENSPANT00000025431.1|protein_coding|3/4|c.693T>A|p.Cys231*|693/1984|693/903|231/300||,T|stop_gained|HIGH|SLAMF9|ENSPANG00000022213|transcript|ENSPANT00000023053.2|protein_coding|4/5|c.657T>A|p.Cys219*|657/1948|657/867|219/288|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 133852973 A G G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|SLAMF9|ENSPANG00000022213|transcript|ENSPANT00000023053.2|protein_coding|2/4|c.78+1T>C||||||,G|synonymous_variant|LOW|SLAMF9|ENSPANG00000022213|transcript|ENSPANT00000025431.1|protein_coding|2/4|c.111T>C|p.Asp37Asp|111/1984|111/903|37/300|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 134229060 C T T|splice_donor_variant&intron_variant|HIGH|COPA|ENSPANG00000005347|transcript|ENSPANT00000019124.2|protein_coding|7/33|c.516+2G>A||||||,T|downstream_gene_variant|MODIFIER|Y_RNA|ENSPANG00000009074|transcript|ENSPANT00000006545.1|misc_RNA||n.*270G>A|||||270|,T|intron_variant|MODIFIER|COPA|ENSPANG00000005347|transcript|ENSPANT00000019123.1|protein_coding|6/32|c.497-191G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 2 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 135361248 C T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000011199|ENSPANG00000011199|transcript|ENSPANT00000023208.1|pseudogene|1/1|n.567+1C>T||||||,T|intron_variant|MODIFIER|ENSPANG00000000424|ENSPANG00000000424|transcript|ENSPANT00000008045.1|protein_coding|5/7|c.742+14079C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 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T|stop_gained|HIGH|PLEKHA6|ENSPANG00000011480|transcript|ENSPANT00000000326.1|protein_coding|24/24|c.3283C>T|p.Gln1095*|3819/4699|3283/3471|1095/1156|| 2 1 1 1 0 1 1 1 1 1 1 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2 2 0 0 0 1 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 1 0 0 2 0 1 0 0 0 0 1 0 0 1 161096620 C T T|splice_donor_variant&splice_region_variant&intron_variant|HIGH|KLHL12|ENSPANG00000011197|transcript|ENSPANT00000015247.1|protein_coding|8/13|c.1017+2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 161097234 G C C|splice_donor_variant&intron_variant|HIGH|KLHL12|ENSPANG00000011197|transcript|ENSPANT00000015247.1|protein_coding|10/13|c.1130+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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C|stop_gained|HIGH|NAV1|ENSPANG00000005199|transcript|ENSPANT00000015274.1|protein_coding|1/29|c.20C>G|p.Ser7*|20/5091|20/5091|7/1696|| 1 1 1 1 0 1 0 1 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 165437027 C T T|stop_gained|HIGH|ATP6V1G3|ENSPANG00000007958|transcript|ENSPANT00000014039.1|protein_coding|3/3|c.244C>T|p.Gln82*|244/354|244/354|82/117||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 171193284 T C C|start_lost|HIGH|GLRX2|ENSPANG00000000340|transcript|ENSPANT00000001997.1|protein_coding|1/4|c.2T>C|p.Met1?|891/2163|2/504|1/167|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 180626395 C T T|stop_gained|HIGH|APOBEC4|ENSPANG00000020059|transcript|ENSPANT00000021179.1|protein_coding|1/1|c.1033C>T|p.Gln345*|1033/1092|1033/1092|345/363|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 181330800 C T T|stop_gained|HIGH|ENSPANG00000004245|ENSPANG00000004245|transcript|ENSPANT00000020817.1|protein_coding|2/3|c.373C>T|p.Gln125*|373/1023|373/1023|125/340||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 1 0 1 0 1 0 0 2 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 1 0 2 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 1 181336990 G A 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T|stop_gained|HIGH|ENSPANG00000001071|ENSPANG00000001071|transcript|ENSPANT00000006993.1|protein_coding|2/4|c.514C>T|p.Arg172*|514/747|514/747|172/248||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 0 1 2 1 0 1 2 1 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 2 0 0 2 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 1 1 0 0 1 0 0 1 2 50230162 C T T|stop_gained|HIGH|PRRT3|ENSPANG00000008199|transcript|ENSPANT00000018108.1|protein_coding|3/3|c.1264C>T|p.Arg422*|1264/2949|1264/2949|422/982||,T|stop_gained|HIGH|PRRT3|ENSPANG00000008199|transcript|ENSPANT00000018109.2|protein_coding|4/4|c.1021C>T|p.Arg341*|1078/2763|1021/2706|341/901||,T|downstream_gene_variant|MODIFIER|CRELD1|ENSPANG00000017846|transcript|ENSPANT00000001050.1|protein_coding||c.*3327G>A|||||3327| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 50433002 C T T|stop_gained|HIGH|OGG1|ENSPANG00000018759|transcript|ENSPANT00000002611.1|protein_coding|7/8|c.1059G>A|p.Trp353*|1059/1227|1059/1227|353/408||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|CAMK1|ENSPANG00000000429|transcript|ENSPANT00000015212.1|protein_coding||c.*389C>T|||||389| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 58784697 G A A|stop_gained|HIGH|CNTN6|ENSPANG00000010252|transcript|ENSPANT00000009357.2|protein_coding|13/22|c.1753C>T|p.Gln585*|1753/6299|1753/3105|585/1034||WARNING_TRANSCRIPT_NO_START_CODON,A|stop_gained|HIGH|CNTN6|ENSPANG00000010252|transcript|ENSPANT00000025489.1|protein_coding|14/23|c.1738C>T|p.Gln580*|2666/7212|1738/3090|580/1029|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 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A|stop_gained|HIGH|ENSPANG00000020595|ENSPANG00000020595|transcript|ENSPANT00000009750.1|protein_coding|1/4|c.342C>A|p.Tyr114*|342/921|342/921|114/306|| 2 1 2 2 1 2 2 1 2 2 1 2 2 2 2 2 0 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 1 2 2 2 1 2 2 1 2 2 2 2 1 1 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 2 2 2 2 1 1 2 1 2 2 2 2 2 1 2 1 1 2 2 1 2 2 1 2 2 81381346 G A A|stop_gained|HIGH|IL17RB|ENSPANG00000015130|transcript|ENSPANT00000023497.1|protein_coding|9/11|c.787C>T|p.Arg263*|921/1643|787/1509|263/502|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 82739697 G A A|stop_gained|HIGH|SMIM4|ENSPANG00000016306|transcript|ENSPANT00000002661.1|protein_coding|1/2|c.16C>T|p.Gln6*|16/330|16/330|6/109||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 2 83352959 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000028758|ENSPANG00000028758|transcript|ENSPANT00000029847.1|lincRNA|3/3|n.366-1G>A||||||,T|3_prime_UTR_variant|MODIFIER|RRP9|ENSPANG00000021490|transcript|ENSPANT00000014528.1|protein_coding|15/15|c.*760C>T|||||760| 0 1 0 0 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 1 0 0 0 1 0 2 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 2 85007711 C T T|stop_gained|HIGH|HYAL3|ENSPANG00000019037|transcript|ENSPANT00000007751.1|protein_coding|3/3|c.1108C>T|p.Arg370*|1125/1271|1108/1254|370/417||,T|upstream_gene_variant|MODIFIER|IFRD2|ENSPANG00000009082|transcript|ENSPANT00000010553.1|protein_coding||c.-3826C>T|||||3398|,T|downstream_gene_variant|MODIFIER|NAT6|ENSPANG00000007802|transcript|ENSPANT00000028023.1|protein_coding||c.*3517C>T|||||3517|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 0 0 2 85394510 G A A|splice_acceptor_variant&intron_variant|HIGH|MST1R|ENSPANG00000011245|transcript|ENSPANT00000000249.1|protein_coding|9/22|c.2440-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 86131086 C T T|start_lost|HIGH|ENSPANG00000010831|ENSPANG00000010831|transcript|ENSPANT00000000752.1|protein_coding|1/1|c.3G>A|p.Met1?|3/330|3/330|1/109||,T|upstream_gene_variant|MODIFIER|C3orf84|ENSPANG00000010290|transcript|ENSPANT00000025987.1|protein_coding||c.-4082C>T|||||4082|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|KLHDC8B|ENSPANG00000022042|transcript|ENSPANT00000000262.1|protein_coding||c.*6818G>A|||||4344| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 1 0 0 0 1 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 2 86693526 C T T|stop_gained|HIGH|SLC26A6|ENSPANG00000020587|transcript|ENSPANT00000007047.1|protein_coding|7/21|c.769C>T|p.Gln257*|769/2277|769/2277|257/758||,T|downstream_gene_variant|MODIFIER|ENSPANG00000026531|ENSPANG00000026531|transcript|ENSPANT00000023628.1|miRNA||n.*1853C>T|||||1853| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 86764678 G A A|splice_donor_variant&intron_variant|HIGH|COL7A1|ENSPANG00000015975|transcript|ENSPANT00000006035.1|protein_coding|114/117|c.8437+1G>A||||||,A|upstream_gene_variant|MODIFIER|UCN2|ENSPANG00000006646|transcript|ENSPANT00000018114.1|protein_coding||c.-2498G>A|||||2498|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 86960659 C T T|stop_gained|HIGH|FBXW12|ENSPANG00000005491|transcript|ENSPANT00000000313.1|protein_coding|7/10|c.867G>A|p.Trp289*|867/1392|867/1392|289/463||,T|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000025640|transcript|ENSPANT00000022427.1|misc_RNA||n.*662G>A|||||662| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 87084077 G A A|stop_gained|HIGH|ENSPANG00000014733|ENSPANG00000014733|transcript|ENSPANT00000000316.1|protein_coding|5/5|c.730C>T|p.Arg244*|889/2541|730/2382|244/793|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 0 1 0 0 1 2 0 1 1 0 0 0 0 0 0 1 0 2 0 1 1 0 0 2 0 1 0 0 2 0 1 1 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 1 0 0 0 0 2 90766224 T A A|stop_gained|HIGH|ENSPANG00000008111|ENSPANG00000008111|transcript|ENSPANT00000016748.1|protein_coding|6/6|c.2800A>T|p.Lys934*|3040/3330|2800/3090|934/1029|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 90811399 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008111|ENSPANG00000008111|transcript|ENSPANT00000016748.1|protein_coding|1/5|c.-91+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 90908099 A G G|stop_lost&splice_region_variant|HIGH|ZNF852|ENSPANG00000008923|transcript|ENSPANT00000016752.1|protein_coding|3/3|c.1640A>G|p.Ter547Trpext*?|1640/1641|1640/1641|547/546||WARNING_TRANSCRIPT_NO_START_CODON 2 1 2 2 1 2 2 1 2 2 1 1 2 2 2 2 2 1 2 1 1 1 2 2 2 2 1 1 2 2 1 1 2 2 1 2 1 2 2 2 1 1 0 1 1 2 1 2 1 2 2 2 1 1 2 2 1 1 1 2 1 2 2 2 2 2 0 1 2 2 1 1 2 2 1 0 2 2 2 2 1 2 1 1 2 2 2 1 1 1 2 2 2 2 1 1 2 2 2 1 2 91075309 G A A|stop_gained|HIGH|ENSPANG00000021864|ENSPANG00000021864|transcript|ENSPANT00000008730.1|protein_coding|9/19|c.724C>T|p.Gln242*|724/2058|724/2058|242/685||,A|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000001953|transcript|ENSPANT00000006040.1|misc_RNA||n.-2994C>T|||||2994|,A|upstream_gene_variant|MODIFIER|ENSPANG00000002203|ENSPANG00000002203|transcript|ENSPANT00000012071.1|miRNA||n.-687C>T|||||687| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 92197628 C A A|stop_gained|HIGH|SNRK|ENSPANG00000009670|transcript|ENSPANT00000016785.1|protein_coding|1/8|c.40G>T|p.Glu14*|78/2075|40/2037|14/678|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 1 1 1 0 0 1 NA 0 0 1 0 0 0 0 0 NA NA NA NA 0 2 NA 0 NA NA 0 0 0 NA NA 2 0 NA NA 0 0 NA 0 0 NA NA 0 0 NA NA NA 0 0 0 0 0 0 0 0 0 0 2 95154209 T C C|start_lost|HIGH|EIF1B|ENSPANG00000023375|transcript|ENSPANT00000017505.1|protein_coding|1/3|c.1A>G|p.Met1?|1/5154|1/405|1/134|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 1 2 96789410 G A A|splice_acceptor_variant&intron_variant|HIGH|SCN5A|ENSPANG00000017810|transcript|ENSPANT00000010398.1|protein_coding|3/27|c.405-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 2 97160048 C T T|splice_donor_variant&intron_variant|HIGH|SLC22A13|ENSPANG00000004181|transcript|ENSPANT00000019132.1|protein_coding|3/7|c.637+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 98008790 C T T|stop_gained|HIGH|ENSPANG00000002433|ENSPANG00000002433|transcript|ENSPANT00000012640.1|protein_coding|2/3|c.219G>A|p.Trp73*|219/510|219/510|73/169||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 98652585 G T T|stop_gained|HIGH|ENSPANG00000007054|ENSPANG00000007054|transcript|ENSPANT00000013262.1|protein_coding|3/7|c.634G>T|p.Glu212*|634/1695|634/1695|212/564|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 2 1 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 2 0 0 2 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 2 99542409 T C C|start_lost|HIGH|ENSPANG00000010171|ENSPANG00000010171|transcript|ENSPANT00000015824.1|protein_coding|1/5|c.1A>G|p.Met1?|278/1090|1/813|1/270||WARNING_TRANSCRIPT_NO_STOP_CODON,C|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000029067|ENSPANG00000029067|transcript|ENSPANT00000029612.1|lincRNA|1/2|n.305T>C|||||| 0 0 0 1 0 1 0 0 1 1 0 0 1 1 1 1 1 1 1 1 1 0 0 0 0 0 2 0 1 0 0 1 0 1 0 0 1 1 1 1 1 0 0 1 0 0 0 0 1 1 2 0 0 0 1 2 0 1 1 2 0 0 1 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 2 1 0 1 0 1 2 1 0 0 1 1 1 0 1 1 0 1 0 0 0 2 106080326 G A A|stop_gained|HIGH|ENSPANG00000010712|ENSPANG00000010712|transcript|ENSPANT00000028685.1|protein_coding|1/1|c.76C>T|p.Arg26*|76/1617|76/1617|26/538|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 106233673 C A 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T|stop_gained|HIGH|ENSPANG00000009988|ENSPANG00000009988|transcript|ENSPANT00000020913.1|protein_coding|2/3|c.367C>T|p.Gln123*|367/597|367/597|123/198||,T|intron_variant|MODIFIER|MRPS6|ENSPANG00000019281|transcript|ENSPANT00000010676.1|protein_coding|2/2|c.186-5477G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 3 12930658 G T T|splice_donor_variant&intron_variant|HIGH|DONSON|ENSPANG00000016795|transcript|ENSPANT00000023723.1|protein_coding|1/11|c.315+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 NA 0 0 0 0 NA 0 0 0 0 0 NA NA 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 3 13264085 G A 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T|stop_gained|HIGH|INTS1|ENSPANG00000009859|transcript|ENSPANT00000014611.1|protein_coding|37/48|c.5097G>A|p.Trp1699*|5583/7059|5097/6573|1699/2190|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 34726758 T C C|start_lost|HIGH|MAD1L1|ENSPANG00000025002|transcript|ENSPANT00000012995.1|protein_coding|1/18|c.1A>G|p.Met1?|1/6832|1/2490|1/829||,C|downstream_gene_variant|MODIFIER|MRM2|ENSPANG00000020444|transcript|ENSPANT00000007828.1|protein_coding||c.*2675A>G|||||2223| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 34739688 G A A|splice_donor_variant&intron_variant|HIGH|NUDT1|ENSPANG00000007402|transcript|ENSPANT00000005499.1|protein_coding|3/5|c.108+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|MRM2|ENSPANG00000020444|transcript|ENSPANT00000007828.1|protein_coding||c.-2771C>T|||||2392| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 3 34855380 G T T|stop_gained|HIGH|EIF3B|ENSPANG00000014557|transcript|ENSPANT00000017605.1|protein_coding|1/22|c.43G>T|p.Glu15*|43/6675|43/2448|15/815||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 3 35030155 C T T|stop_gained|HIGH|GRIFIN|ENSPANG00000009858|transcript|ENSPANT00000013033.1|protein_coding|4/6|c.381G>A|p.Trp127*|381/432|381/432|127/143|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 35169479 G A A|splice_acceptor_variant&intron_variant|HIGH|IQCE|ENSPANG00000005016|transcript|ENSPANT00000011155.1|protein_coding|18/26|c.1347-2C>T||||||,A|splice_region_variant&intron_variant|LOW|IQCE|ENSPANG00000005016|transcript|ENSPANT00000005618.2|protein_coding|15/22|c.1350-8C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 2 0 1 0 1 0 0 2 0 1 0 0 2 0 1 1 0 2 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 1 2 0 1 1 3 37624378 C T T|stop_gained|HIGH|RBAK|ENSPANG00000015671|transcript|ENSPANT00000029028.1|protein_coding|4/10|c.301C>T|p.Arg101*|989/3475|301/2787|101/928|| 0 0 0 0 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1 0 1 1 1 2 2 1 1 1 2 1 2 2 2 1 2 2 1 1 2 2 1 2 2 2 2 2 1 1 3 40953735 T C C|splice_acceptor_variant&intron_variant|HIGH|CYP3A5|ENSPANG00000023122|transcript|ENSPANT00000028043.1|protein_coding|11/14|c.1023-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 1 0 0 0 1 0 0 1 0 1 1 1 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 1 0 0 1 1 0 0 0 1 0 0 0 1 0 1 1 1 0 0 1 1 0 0 1 1 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 3 41002179 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008155|ENSPANG00000008155|transcript|ENSPANT00000026358.1|protein_coding|11/13|c.1253+2T>C||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000016407|ENSPANG00000016407|transcript|ENSPANT00000011776.1|miRNA||n.-4017A>G|||||4017| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 3 41003836 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008155|ENSPANG00000008155|transcript|ENSPANT00000026358.1|protein_coding|10/13|c.1026+2C>T||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000016407|ENSPANG00000016407|transcript|ENSPANT00000011776.1|miRNA||n.-2360G>A|||||2360| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 3 44178448 T C C|start_lost&splice_region_variant|HIGH|HIP1|ENSPANG00000013801|transcript|ENSPANT00000017837.1|protein_coding|1/31|c.2T>C|p.Met1?|107/3102|2/2997|1/998|| 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 3 45744676 G A 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T|stop_gained|HIGH|ENSPANG00000002885|ENSPANG00000002885|transcript|ENSPANT00000011079.1|protein_coding|3/4|c.325C>T|p.Gln109*|325/846|325/846|109/281||,T|intron_variant|MODIFIER|GSAP|ENSPANG00000009852|transcript|ENSPANT00000011078.1|protein_coding|12/32|c.875-2040C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 3 124805221 A G G|splice_donor_variant&intron_variant|HIGH|CCDC146|ENSPANG00000020437|transcript|ENSPANT00000019592.1|protein_coding|7/17|c.986+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 125438382 C G G|splice_donor_variant&intron_variant|HIGH|DNAJC2|ENSPANG00000019301|transcript|ENSPANT00000002276.2|protein_coding|6/19|c.596+1G>C||||||,G|intron_variant|MODIFIER|DNAJC2|ENSPANG00000019301|transcript|ENSPANT00000002277.1|protein_coding|5/16|c.572+868G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 1 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 3 128176370 C T T|stop_gained|HIGH|CDHR3|ENSPANG00000003400|transcript|ENSPANT00000023114.1|protein_coding|21/27|c.2104C>T|p.Gln702*|2104/2673|2104/2673|702/890||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 3 129862989 G C 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G|stop_lost&splice_region_variant|HIGH|THAP5|ENSPANG00000006063|transcript|ENSPANT00000023111.1|protein_coding|4/4|c.1177T>C|p.Ter393Glnext*?|1177/1179|1177/1179|393/392|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 145786638 G A A|stop_gained|HIGH|ASB15|ENSPANG00000000491|transcript|ENSPANT00000024461.1|protein_coding|6/10|c.551G>A|p.Trp184*|1367/5958|551/1785|184/594|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 3 147581484 G T T|stop_gained|HIGH|ENSPANG00000010143|ENSPANG00000010143|transcript|ENSPANT00000011492.1|protein_coding|1/1|c.772G>T|p.Glu258*|772/1293|772/1293|258/430||,T|upstream_gene_variant|MODIFIER|ENSPANG00000010346|ENSPANG00000010346|transcript|ENSPANT00000029156.1|miRNA||n.-20G>T|||||20| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 147581721 C T T|stop_gained|HIGH|ENSPANG00000010143|ENSPANG00000010143|transcript|ENSPANT00000011492.1|protein_coding|1/1|c.1009C>T|p.Gln337*|1009/1293|1009/1293|337/430||,T|downstream_gene_variant|MODIFIER|ENSPANG00000010346|ENSPANG00000010346|transcript|ENSPANT00000029156.1|miRNA||n.*122C>T|||||122| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 3 147581820 A T T|stop_gained|HIGH|ENSPANG00000010143|ENSPANG00000010143|transcript|ENSPANT00000011492.1|protein_coding|1/1|c.1108A>T|p.Lys370*|1108/1293|1108/1293|370/430||,T|downstream_gene_variant|MODIFIER|ENSPANG00000010346|ENSPANG00000010346|transcript|ENSPANT00000029156.1|miRNA||n.*221A>T|||||221| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 152215429 C A A|start_lost|HIGH|CEP41|ENSPANG00000014228|transcript|ENSPANT00000020253.2|protein_coding|1/12|c.3G>T|p.Met1?|3/1137|3/1137|1/378||,A|intron_variant|MODIFIER|CEP41|ENSPANG00000014228|transcript|ENSPANT00000025214.1|protein_coding|1/10|c.34-548G>T|||||| 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 1 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 NA 0 1 0 0 NA 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 3 156374621 G A 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0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 3 170714065 G A A|stop_gained|HIGH|ZNF786|ENSPANG00000019897|transcript|ENSPANT00000028985.1|protein_coding|4/4|c.1006C>T|p.Gln336*|1020/3023|1006/2463|336/820|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 1 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 3 171487778 C T T|stop_gained|HIGH|SSPO|ENSPANG00000018189|transcript|ENSPANT00000009305.1|protein_coding|64/103|c.9604C>T|p.Arg3202*|9604/15471|9604/15471|3202/5156|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 171491612 G A A|stop_gained|HIGH|SSPO|ENSPANG00000018189|transcript|ENSPANT00000009305.1|protein_coding|72/103|c.10835G>A|p.Trp3612*|10835/15471|10835/15471|3612/5156|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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T|splice_acceptor_variant&intron_variant|HIGH|FASTK|ENSPANG00000015942|transcript|ENSPANT00000025064.1|protein_coding|6/10|c.1200-2G>A||||||,T|downstream_gene_variant|MODIFIER|SLC4A2|ENSPANG00000006706|transcript|ENSPANT00000012453.1|protein_coding||c.*1152C>T|||||1152|,T|intron_variant|MODIFIER|FASTK|ENSPANG00000015942|transcript|ENSPANT00000019751.2|protein_coding|6/9|c.1199+97G>A|||||| 1 1 0 0 2 0 1 1 1 1 1 0 0 2 1 1 0 2 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0 0 0 0 0 1 0 0 1 1 1 0 1 0 0 1 1 0 0 1 0 0 3 172571447 T C C|start_lost|HIGH|SMARCD3|ENSPANG00000026411|transcript|ENSPANT00000022897.1|protein_coding|2/14|c.1A>G|p.Met1?|426/1862|1/1437|1/478|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3 172729139 C G G|splice_donor_variant&intron_variant|HIGH|CRYGN|ENSPANG00000000818|transcript|ENSPANT00000011419.1|protein_coding|3/3|c.416+1G>C||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000009371|ENSPANG00000009371|transcript|ENSPANT00000017021.1|miRNA||n.-2564G>C|||||2564| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 3 177775855 A G G|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000006174|ENSPANG00000006174|transcript|ENSPANT00000013071.1|protein_coding|3/4|c.426+1T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|RNF32|ENSPANG00000021592|transcript|ENSPANT00000013075.1|protein_coding||c.-3672A>G|||||3672| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 1 0 1 0 3 178084282 A G G|splice_acceptor_variant&intron_variant|HIGH|NOM1|ENSPANG00000007605|transcript|ENSPANT00000007660.1|protein_coding|1/6|c.1000-2A>G|||||| 0 0 1 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 4 2688113 G A A|stop_gained|HIGH|SERPINB9|ENSPANG00000015755|transcript|ENSPANT00000012139.1|protein_coding|6/6|c.853C>T|p.Gln285*|853/1131|853/1131|285/376|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 7170910 A C C|stop_lost&splice_region_variant|HIGH|CAGE1|ENSPANG00000018207|transcript|ENSPANT00000005546.1|protein_coding|13/13|c.2521T>G|p.Ter841Gluext*?|2544/2546|2521/2523|841/840|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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T|stop_gained|HIGH|SLC17A4|ENSPANG00000010498|transcript|ENSPANT00000007529.1|protein_coding|2/11|c.106C>T|p.Arg36*|142/1530|106/1494|36/497|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 27759821 A T T|stop_gained|HIGH|ENSPANG00000017899|ENSPANG00000017899|transcript|ENSPANT00000026538.1|protein_coding|1/3|c.254T>A|p.Leu85*|254/562|254/528|85/175|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 4 27851443 G A A|stop_gained|HIGH|ENSPANG00000018080|ENSPANG00000018080|transcript|ENSPANT00000023172.1|protein_coding|2/5|c.508C>T|p.Gln170*|508/870|508/870|170/289||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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C|start_lost|HIGH|OR2J1|ENSPANG00000013952|transcript|ENSPANT00000014238.1|protein_coding|1/1|c.2T>C|p.Met1?|2/939|2/939|1/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 28986577 C T T|stop_gained|HIGH|OR14J1|ENSPANG00000007709|transcript|ENSPANT00000012313.1|protein_coding|1/2|c.376C>T|p.Gln126*|376/966|376/966|126/321||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 29036393 G A A|stop_gained|HIGH|OR12D3|ENSPANG00000021394|transcript|ENSPANT00000012183.1|protein_coding|1/1|c.937C>T|p.Gln313*|937/951|937/951|313/316|| 0 1 1 1 1 1 1 1 1 1 0 1 0 0 0 0 0 1 2 0 1 1 2 1 0 2 1 1 1 2 0 0 0 0 0 0 0 0 2 1 0 2 2 1 NA 1 2 2 0 1 1 0 2 1 1 0 1 0 0 2 2 2 0 0 1 1 0 1 2 1 1 1 1 2 2 0 1 1 1 1 1 0 1 1 0 0 2 1 1 0 2 0 0 2 2 1 0 1 1 1 4 29036995 A C C|stop_gained|HIGH|OR12D3|ENSPANG00000021394|transcript|ENSPANT00000012183.1|protein_coding|1/1|c.335T>G|p.Leu112*|335/951|335/951|112/316|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 29100806 G A A|stop_gained|HIGH|OR10C1|ENSPANG00000007264|transcript|ENSPANT00000008772.1|protein_coding|1/1|c.443G>A|p.Trp148*|443/939|443/939|148/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 4 29101014 C G G|stop_gained|HIGH|OR10C1|ENSPANG00000007264|transcript|ENSPANT00000008772.1|protein_coding|1/1|c.651C>G|p.Tyr217*|651/939|651/939|217/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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A|start_lost|HIGH|ENSPANG00000009407|ENSPANG00000009407|transcript|ENSPANT00000015947.1|protein_coding|1/3|c.3G>A|p.Met1?|3/1221|3/1221|1/406|| 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 29479290 C T T|stop_gained|HIGH|ENSPANG00000009407|ENSPANG00000009407|transcript|ENSPANT00000015947.1|protein_coding|1/3|c.139C>T|p.Arg47*|139/1221|139/1221|47/406|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 2 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 4 29479344 C T T|stop_gained|HIGH|ENSPANG00000009407|ENSPANG00000009407|transcript|ENSPANT00000015947.1|protein_coding|1/3|c.193C>T|p.Gln65*|193/1221|193/1221|65/406|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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A|stop_gained|HIGH|ENSPANG00000017862|ENSPANG00000017862|transcript|ENSPANT00000005551.1|protein_coding|4/8|c.409G>T|p.Glu137*|624/1090|409/699|137/232|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 30825578 T C C|stop_lost|HIGH|ENSPANG00000012698|ENSPANG00000012698|transcript|ENSPANT00000005554.1|protein_coding|4/4|c.1057T>C|p.Ter353Glnext*?|1057/2867|1057/1059|353/352|| 1 2 2 2 2 2 1 2 2 0 2 2 2 1 2 2 2 2 2 2 2 2 1 2 2 2 2 0 2 2 2 2 2 2 1 2 1 2 2 2 1 2 1 2 1 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 1 2 2 1 2 0 1 2 2 2 2 2 2 2 2 2 2 2 2 0 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 1 4 31045193 C T T|stop_gained|HIGH|LY6G6F|ENSPANG00000022208|transcript|ENSPANT00000019250.1|protein_coding|3/6|c.583C>T|p.Arg195*|841/5261|583/894|195/297|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 4 31108352 G A A|stop_gained|HIGH|VWA7|ENSPANG00000022697|transcript|ENSPANT00000028994.1|protein_coding|9/16|c.1363C>T|p.Arg455*|1363/2676|1363/2676|455/891||,A|downstream_gene_variant|MODIFIER|SAPCD1|ENSPANG00000022232|transcript|ENSPANT00000023621.1|protein_coding||c.*4910G>A|||||4910|WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 31214034 C G G|stop_lost&splice_region_variant|HIGH|NEU1|ENSPANG00000018204|transcript|ENSPANT00000009862.1|protein_coding|6/6|c.1250G>C|p.Ter417Serext*?|1367/1368|1250/1251|417/416||,G|downstream_gene_variant|MODIFIER|SLC44A4|ENSPANG00000005766|transcript|ENSPANT00000029291.1|protein_coding||c.*3869G>C|||||3310| 1 1 0 1 1 1 0 1 1 0 1 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 1 4 31890810 C A A|stop_gained|HIGH|HLA-DQB1|ENSPANG00000009109|transcript|ENSPANT00000000041.1|protein_coding|1/2|c.181G>T|p.Glu61*|181/618|181/618|61/205|| 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 4 32077361 A T T|stop_gained|HIGH|ENSPANG00000015103|ENSPANG00000015103|transcript|ENSPANT00000001495.1|protein_coding|4/11|c.797T>A|p.Leu266*|801/5188|797/2112|266/703|| 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 32268141 A C C|splice_donor_variant&intron_variant|HIGH|HLA-DOA|ENSPANG00000018201|transcript|ENSPANT00000018814.1|protein_coding|1/5|c.-398+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 2 2 0 0 0 1 0 0 1 0 0 0 1 1 1 1 0 0 0 1 0 0 0 1 0 0 2 1 0 1 0 1 1 0 0 1 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 2 0 0 4 32268142 C T T|splice_donor_variant&intron_variant|HIGH|HLA-DOA|ENSPANG00000018201|transcript|ENSPANT00000018814.1|protein_coding|1/5|c.-398+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 2 2 0 0 0 1 0 0 1 0 0 0 1 1 1 1 0 0 0 1 0 0 0 1 0 0 2 1 0 1 0 1 1 0 0 1 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 2 0 0 4 32344666 G A A|stop_gained|HIGH|HLA-DPB1|ENSPANG00000005764|transcript|ENSPANT00000028720.1|protein_coding|3/5|c.495G>A|p.Trp165*|495/798|495/798|165/265|| 0 0 0 0 0 0 0 0 0 0 0 NA NA NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 NA NA 4 32437689 G A A|stop_gained|HIGH|COL11A2|ENSPANG00000009194|transcript|ENSPANT00000012371.1|protein_coding|16/66|c.1426C>T|p.Arg476*|1779/7830|1426/5127|476/1708|| NA 1 0 1 1 1 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 4 32438099 T C C|splice_acceptor_variant&intron_variant|HIGH|COL11A2|ENSPANG00000009194|transcript|ENSPANT00000012371.1|protein_coding|13/65|c.1267-2A>G|||||| 1 1 0 NA NA NA NA NA NA 0 1 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 NA 0 NA NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 NA NA 1 0 0 0 NA 0 0 0 NA NA 0 0 0 0 0 0 4 32438412 G A A|stop_gained|HIGH|COL11A2|ENSPANG00000009194|transcript|ENSPANT00000012371.1|protein_coding|13/66|c.1183C>T|p.Arg395*|1536/7830|1183/5127|395/1708|| 1 1 0 1 1 1 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 0 0 1 NA 0 0 0 0 0 0 4 32447746 G A A|stop_gained|HIGH|COL11A2|ENSPANG00000009194|transcript|ENSPANT00000012371.1|protein_coding|4/66|c.289C>T|p.Gln97*|642/7830|289/5127|97/1708||,A|downstream_gene_variant|MODIFIER|RXRB|ENSPANG00000018527|transcript|ENSPANT00000020307.2|protein_coding||c.*5578C>T|||||4344|,A|downstream_gene_variant|MODIFIER|RXRB|ENSPANG00000018527|transcript|ENSPANT00000026583.1|protein_coding||c.*5578C>T|||||4344| 1 0 0 NA 0 NA NA 1 NA 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 NA 0 0 0 0 0 0 4 32572330 C A A|stop_gained|HIGH|TAPBP|ENSPANG00000022348|transcript|ENSPANT00000012386.1|protein_coding|2/7|c.61G>T|p.Gly21*|61/1404|61/1404|21/467||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ZBTB22|ENSPANG00000007019|transcript|ENSPANT00000026210.1|protein_coding||c.*1384G>T|||||1384|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|DAXX|ENSPANG00000020874|transcript|ENSPANT00000026209.1|protein_coding||c.*4875G>T|||||3726| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 4 34106126 G A A|stop_gained|HIGH|UHRF1BP1|ENSPANG00000008271|transcript|ENSPANT00000006471.1|protein_coding|8/25|c.842G>A|p.Trp281*|842/4290|842/4290|281/1429||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 34106174 T C C|splice_donor_variant&intron_variant|HIGH|UHRF1BP1|ENSPANG00000008271|transcript|ENSPANT00000006471.1|protein_coding|8/24|c.888+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 0 0 0 0 0 1 0 1 1 0 0 0 2 0 2 1 0 1 1 1 1 2 0 0 1 2 1 1 1 2 0 0 1 1 1 2 1 1 1 1 0 2 1 2 0 0 0 1 2 0 2 0 1 1 1 2 1 2 0 1 0 0 1 0 2 0 2 0 1 0 0 0 2 1 2 1 0 0 2 0 0 0 1 0 0 1 2 1 1 1 1 2 0 0 2 1 4 34157330 G A A|stop_gained|HIGH|TAF11|ENSPANG00000009105|transcript|ENSPANT00000009210.1|protein_coding|1/5|c.43C>T|p.Gln15*|43/810|43/810|15/269||,A|upstream_gene_variant|MODIFIER|ANKS1A|ENSPANG00000016478|transcript|ENSPANT00000008105.1|protein_coding||c.-1321G>A|||||1190| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 4 35078077 C G G|stop_gained|HIGH|ZNF418|ENSPANG00000019064|transcript|ENSPANT00000005259.1|protein_coding|2/3|c.1176C>G|p.Tyr392*|1176/1968|1176/1968|392/655||WARNING_TRANSCRIPT_NO_START_CODON,G|stop_gained|HIGH|ZNF418|ENSPANG00000019064|transcript|ENSPANT00000009669.1|protein_coding|2/2|c.1080C>G|p.Tyr360*|1080/3094|1080/1749|360/582|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 2 0 1 0 4 36972210 C A A|stop_gained|HIGH|MDGA1|ENSPANG00000016926|transcript|ENSPANT00000000117.1|protein_coding|9/18|c.1315G>T|p.Glu439*|1315/2808|1315/2808|439/935||WARNING_TRANSCRIPT_NO_START_CODON,A|stop_gained|HIGH|MDGA1|ENSPANG00000016926|transcript|ENSPANT00000000116.2|protein_coding|6/15|c.1267G>T|p.Glu423*|1267/7666|1267/2757|423/918|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 4 40348153 C G G|splice_donor_variant&intron_variant|HIGH|UNC5CL|ENSPANG00000019059|transcript|ENSPANT00000009592.1|protein_coding|1/8|c.-62+1G>C||||||,G|upstream_gene_variant|MODIFIER|TSPO2|ENSPANG00000025499|transcript|ENSPANT00000009594.1|protein_coding||c.-2257C>G|||||1335| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 1 1 2 1 2 0 1 0 0 2 1 0 0 1 0 1 0 0 1 2 0 0 0 1 2 0 1 1 0 1 2 2 0 0 0 1 1 0 2 1 0 1 1 0 2 2 2 1 0 0 1 2 0 2 0 2 0 2 0 0 0 0 0 0 0 1 0 0 1 1 0 1 1 1 1 1 0 4 40351862 C G G|stop_gained|HIGH|TSPO2|ENSPANG00000025499|transcript|ENSPANT00000009594.1|protein_coding|2/4|c.59C>G|p.Ser20*|981/2133|59/573|20/190||,G|upstream_gene_variant|MODIFIER|UNC5CL|ENSPANG00000019059|transcript|ENSPANT00000009592.1|protein_coding||c.-7828G>C|||||3194| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 1 1 2 1 2 0 1 0 0 2 1 0 0 1 0 1 0 0 1 2 0 0 0 1 2 0 1 1 0 1 2 2 0 0 0 1 1 0 2 1 0 1 1 0 2 2 2 2 0 0 2 2 0 2 0 2 0 2 0 0 0 0 0 0 0 1 0 0 1 1 0 1 1 1 1 1 0 4 40516224 C T T|stop_gained|HIGH|TREML2|ENSPANG00000009452|transcript|ENSPANT00000023765.1|protein_coding|1/5|c.149G>A|p.Trp50*|149/5796|149/1155|50/384|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 4 42248208 T G G|start_lost|HIGH|ENSPANG00000008439|ENSPANG00000008439|transcript|ENSPANT00000011919.1|protein_coding|1/6|c.2T>G|p.Met1?|2/768|2/768|1/255|| 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 4 42248209 G C C|start_lost|HIGH|ENSPANG00000008439|ENSPANG00000008439|transcript|ENSPANT00000011919.1|protein_coding|1/6|c.3G>C|p.Met1?|3/768|3/768|1/255|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 4 42500721 C A A|stop_gained|HIGH|PTK7|ENSPANG00000015745|transcript|ENSPANT00000001006.1|protein_coding|1/19|c.12C>A|p.Cys4*|12/3969|12/3216|4/1071||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PTK7|ENSPANG00000015745|transcript|ENSPANT00000001004.2|protein_coding|1/19|c.80-71C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 2 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 4 43049073 T G G|splice_acceptor_variant&intron_variant|HIGH|MRPS18A|ENSPANG00000006967|transcript|ENSPANT00000008100.1|protein_coding|5/5|c.447-2A>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 46040822 A C C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ANKRD66|ENSPANG00000016796|transcript|ENSPANT00000004926.1|protein_coding|1/4|c.61-1A>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 1 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 1 0 4 48803983 G T T|stop_gained|HIGH|RHAG|ENSPANG00000006260|transcript|ENSPANT00000000965.1|protein_coding|4/10|c.716C>A|p.Ser239*|716/1383|716/1383|239/460|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 49145970 C A A|stop_gained|HIGH|DEFB113|ENSPANG00000015184|transcript|ENSPANT00000000856.1|protein_coding|2/2|c.133G>T|p.Glu45*|133/246|133/246|45/81||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|DEFB114|ENSPANG00000009022|transcript|ENSPANT00000000855.1|protein_coding||c.-4326G>T|||||4326|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 4 51372808 C T T|stop_gained|HIGH|MCM3|ENSPANG00000017188|transcript|ENSPANT00000004738.1|protein_coding|18/18|c.2702G>A|p.Trp901*|2827/4955|2702/2733|901/910|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 4 51372980 G A 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T|stop_gained|HIGH|ENSPANG00000021883|ENSPANG00000021883|transcript|ENSPANT00000001525.1|protein_coding|7/8|c.1474C>T|p.Gln492*|1474/1806|1474/1806|492/601||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 60731454 T A A|stop_gained|HIGH|ENSPANG00000007115|ENSPANG00000007115|transcript|ENSPANT00000011158.1|protein_coding|2/2|c.690T>A|p.Tyr230*|1465/1665|690/888|230/295||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|EYS|ENSPANG00000007116|transcript|ENSPANT00000005989.1|protein_coding|7/30|c.974-16876A>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 4 61713736 C T T|stop_gained|HIGH|SLC25A51|ENSPANG00000024396|transcript|ENSPANT00000026532.1|protein_coding|1/6|c.169C>T|p.Arg57*|169/876|169/876|57/291||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 4 65308200 G T T|stop_gained|HIGH|ENSPANG00000024772|ENSPANG00000024772|transcript|ENSPANT00000006843.1|protein_coding|2/2|c.541G>T|p.Glu181*|816/2952|541/795|181/264|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 68694312 C T T|stop_gained|HIGH|ENSPANG00000007151|ENSPANG00000007151|transcript|ENSPANT00000021378.1|protein_coding|7/7|c.1168C>T|p.Gln390*|1168/1308|1168/1308|390/435|| 1 0 0 0 0 0 0 0 1 1 1 1 0 0 0 0 0 0 2 0 1 0 1 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 2 0 2 0 0 2 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 1 0 4 68912258 G A A|stop_gained|HIGH|ENSPANG00000019057|ENSPANG00000019057|transcript|ENSPANT00000008468.1|protein_coding|2/3|c.250C>T|p.Gln84*|250/848|250/510|84/169||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 69062838 G T T|stop_gained|HIGH|ENSPANG00000020317|ENSPANG00000020317|transcript|ENSPANT00000008213.1|protein_coding|3/3|c.622G>T|p.Glu208*|622/654|622/654|208/217||,T|downstream_gene_variant|MODIFIER|OOEP|ENSPANG00000010455|transcript|ENSPANT00000008212.1|protein_coding||c.*4733C>A|||||4733| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 69932225 C T T|stop_gained|HIGH|ENSPANG00000000444|ENSPANG00000000444|transcript|ENSPANT00000023591.1|protein_coding|1/1|c.13C>T|p.Gln5*|13/411|13/411|5/136|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 70832613 C T T|splice_donor_variant&intron_variant|HIGH|COL12A1|ENSPANG00000018518|transcript|ENSPANT00000005625.1|protein_coding|4/68|c.159+1G>A|||||| 0 1 1 1 2 2 1 2 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 1 0 0 1 0 0 1 1 0 0 4 84746751 G A A|stop_gained|HIGH|ENSPANG00000020410|ENSPANG00000020410|transcript|ENSPANT00000029075.1|protein_coding|7/8|c.598C>T|p.Gln200*|598/669|598/669|200/222||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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A|stop_gained|HIGH|ENSPANG00000015091|ENSPANG00000015091|transcript|ENSPANT00000028044.1|protein_coding|6/8|c.661C>T|p.Gln221*|661/873|661/873|221/290||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ENSPANG00000028912|ENSPANG00000028912|transcript|ENSPANT00000030903.1|lincRNA||n.*4275G>A|||||4275| 1 1 1 1 0 2 0 0 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 1 2 0 1 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 1 0 0 1 0 0 0 0 0 0 4 90438691 G A A|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000015091|ENSPANG00000015091|transcript|ENSPANT00000028044.1|protein_coding|5/7|c.580-1C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|ENSPANG00000028912|ENSPANG00000028912|transcript|ENSPANT00000030903.1|lincRNA||n.*4357G>A|||||4357| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 1 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 1 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 2 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 4 95464080 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000019547|ENSPANG00000019547|transcript|ENSPANT00000007563.1|protein_coding|2/2|c.341+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 107039689 C T T|stop_gained|HIGH|ENSPANG00000011253|ENSPANG00000011253|transcript|ENSPANT00000010996.1|protein_coding|2/2|c.898C>T|p.Arg300*|898/942|898/942|300/313||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|TFB1M|ENSPANG00000007489|transcript|ENSPANT00000010993.1|protein_coding|5/6|c.667-1295C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 107057317 C G G|stop_lost&splice_region_variant|HIGH|TIAM2|ENSPANG00000017324|transcript|ENSPANT00000027946.1|protein_coding|16/16|c.3497G>C|p.Ter1166Serext*?|3699/3700|3497/3498|1166/1165|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 4 112410800 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000013265|ENSPANG00000013265|transcript|ENSPANT00000026292.1|protein_coding|1/3|c.266-2G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 112469745 A T T|stop_gained|HIGH|ENSPANG00000019224|ENSPANG00000019224|transcript|ENSPANT00000000135.1|protein_coding|2/3|c.94A>T|p.Lys32*|157/2182|94/552|32/183||,T|downstream_gene_variant|MODIFIER|ENSPANG00000027620|ENSPANG00000027620|transcript|ENSPANT00000030477.1|lincRNA||n.*926A>T|||||926| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 4 112548322 A T T|stop_gained|HIGH|ENSPANG00000024446|ENSPANG00000024446|transcript|ENSPANT00000000142.1|protein_coding|3/4|c.550A>T|p.Lys184*|550/735|550/735|184/244|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 NA 0 0 0 0 1 0 0 0 4 112734991 T C C|stop_lost&splice_region_variant|HIGH|ENSPANG00000022187|ENSPANG00000022187|transcript|ENSPANT00000024268.1|protein_coding|6/6|c.763T>C|p.Ter255Argext*?|1324/1326|763/765|255/254|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 2 1 0 1 0 1 0 0 1 0 0 0 0 1 0 1 0 0 1 0 1 1 0 0 1 1 0 0 0 0 1 0 1 1 0 0 0 0 0 2 1 2 0 0 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 2 1 4 113051973 C T T|start_lost|HIGH|GINM1|ENSPANG00000024074|transcript|ENSPANT00000016839.1|protein_coding|1/8|c.3G>A|p.Met1?|58/1051|3/996|1/331|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 120293594 A T T|stop_gained|HIGH|ENSPANG00000022184|ENSPANG00000022184|transcript|ENSPANT00000026744.1|protein_coding|2/2|c.535A>T|p.Lys179*|1077/1915|535/612|179/203|| 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 125318943 T C C|start_lost|HIGH|IL22RA2|ENSPANG00000000356|transcript|ENSPANT00000000198.1|protein_coding|1/5|c.2T>C|p.Met1?|354/2916|2/696|1/231|| 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 1 2 0 2 1 0 0 1 1 2 1 0 1 1 1 1 1 0 2 0 1 2 1 1 1 0 1 0 2 1 1 1 0 0 1 1 1 1 1 1 0 1 1 2 0 2 1 2 0 1 0 0 2 2 1 1 2 1 1 2 0 1 0 1 0 2 1 0 1 2 1 2 0 2 0 0 1 0 1 2 1 0 1 0 4 126068794 T C C|start_lost|HIGH|ARL14EP|ENSPANG00000000551|transcript|ENSPANT00000016649.1|protein_coding|1/2|c.2T>C|p.Met1?|2/762|2/762|1/253||,C|intron_variant|MODIFIER|MAP7|ENSPANG00000016952|transcript|ENSPANT00000016648.1|protein_coding|2/21|c.174+3017T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 2 1 0 2 1 1 1 2 2 1 1 0 1 1 0 1 0 1 1 1 0 0 0 0 0 0 1 0 0 0 1 1 1 0 0 1 0 1 1 1 1 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 1 0 1 1 0 0 2 1 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 1 0 0 1 2 2 0 0 2 0 1 1 0 1 1 1 1 1 0 0 2 4 129756187 G A 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129954769 C T T|stop_gained|HIGH|TAAR2|ENSPANG00000023669|transcript|ENSPANT00000028991.1|protein_coding|2/2|c.124C>T|p.Arg42*|124/1050|124/1050|42/349||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 4 141374441 G A A|splice_donor_variant&intron_variant|HIGH|TBC1D32|ENSPANG00000025128|transcript|ENSPANT00000012629.1|protein_coding|26/33|c.2959+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 4 143184678 C T T|splice_donor_variant&intron_variant|HIGH|MAN1A1|ENSPANG00000019275|transcript|ENSPANT00000023718.1|protein_coding|1/12|c.38+1C>T||||||,T|synonymous_variant|LOW|MAN1A1|ENSPANG00000019275|transcript|ENSPANT00000007961.2|protein_coding|2/13|c.288C>T|p.Pro96Pro|288/2214|288/2214|96/737|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 4 143707758 C T T|splice_acceptor_variant&intron_variant|HIGH|MCM9|ENSPANG00000012446|transcript|ENSPANT00000016073.1|protein_coding|12/22|c.1373-2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 4 143708057 G A 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T|stop_gained|HIGH|ENSPANG00000018532|ENSPANG00000018532|transcript|ENSPANT00000022067.1|protein_coding|1/1|c.259C>T|p.Gln87*|259/585|259/585|87/194||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 152579954 A G G|splice_acceptor_variant&intron_variant|HIGH|AK9|ENSPANG00000008202|transcript|ENSPANT00000006393.1|protein_coding|8/49|c.546-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 4 152651622 T G G|stop_gained|HIGH|AK9|ENSPANG00000008202|transcript|ENSPANT00000006393.1|protein_coding|25/50|c.1956T>G|p.Tyr652*|1956/5736|1956/5736|652/1911||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 152780360 G A A|stop_gained|HIGH|MICAL1|ENSPANG00000014435|transcript|ENSPANT00000011001.1|protein_coding|12/24|c.1709G>A|p.Trp570*|1709/3198|1709/3198|570/1065||,A|downstream_gene_variant|MODIFIER|SMPD2|ENSPANG00000024480|transcript|ENSPANT00000027152.1|protein_coding||c.*4341C>T|||||4341| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 4 154198725 G A A|stop_gained|HIGH|ENSPANG00000004075|ENSPANG00000004075|transcript|ENSPANT00000009824.1|protein_coding|2/3|c.517C>T|p.Arg173*|517/777|517/777|173/258|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 4 154198752 C A A|stop_gained|HIGH|ENSPANG00000004075|ENSPANG00000004075|transcript|ENSPANT00000009824.1|protein_coding|2/3|c.490G>T|p.Glu164*|490/777|490/777|164/258|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 4 155150944 C T T|stop_gained|HIGH|ENSPANG00000026229|ENSPANG00000026229|transcript|ENSPANT00000020304.1|protein_coding|3/3|c.564G>A|p.Trp188*|564/762|564/762|188/253||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 2 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 1 0 2 0 0 1 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 4 155794115 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000014232|ENSPANG00000014232|transcript|ENSPANT00000007374.1|protein_coding|23/34|c.909+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 4 160288991 G A A|stop_gained|HIGH|ENSPANG00000020604|ENSPANG00000020604|transcript|ENSPANT00000003219.1|protein_coding|1/1|c.125G>A|p.Trp42*|125/882|125/882|42/293||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 4 162362555 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008429|ENSPANG00000008429|transcript|ENSPANT00000026952.1|protein_coding|5/12|c.557+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 2 1 0 2 1 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 1 0 1 1 4 162364057 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008429|ENSPANG00000008429|transcript|ENSPANT00000026952.1|protein_coding|7/12|c.675+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 0 2 1 2 1 2 0 2 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 4 162374264 C T T|stop_gained|HIGH|ENSPANG00000008429|ENSPANG00000008429|transcript|ENSPANT00000026952.1|protein_coding|12/13|c.1084C>T|p.Gln362*|1084/1317|1084/1317|362/438||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 4 163098802 G A A|stop_gained|HIGH|FRMD1|ENSPANG00000016089|transcript|ENSPANT00000007481.2|protein_coding|1/11|c.76C>T|p.Arg26*|76/1653|76/1653|26/550||,A|5_prime_UTR_variant|MODIFIER|FRMD1|ENSPANG00000016089|transcript|ENSPANT00000019763.1|protein_coding|1/12|c.-6C>T|||||6| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 1 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 5 85697 C A A|stop_gained|HIGH|ENSPANG00000006283|ENSPANG00000006283|transcript|ENSPANT00000010766.1|protein_coding|1/1|c.67G>T|p.Glu23*|67/498|67/498|23/165|| 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 5 1931254 T C C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|KIAA0232|ENSPANG00000007833|transcript|ENSPANT00000025920.1|protein_coding|7/10|c.2493+1A>G|||||| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 5 3023461 T C C|splice_acceptor_variant&intron_variant|HIGH|EVC|ENSPANG00000025494|transcript|ENSPANT00000001024.1|protein_coding|9/20|c.1313-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 3865235 G A A|splice_donor_variant&intron_variant|HIGH|MSX1|ENSPANG00000016782|transcript|ENSPANT00000013120.1|protein_coding|3/4|c.432+2C>T||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000028119|ENSPANG00000028119|transcript|ENSPANT00000030671.1|lincRNA||n.-3925G>A|||||3925| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 3869368 G C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000028119|ENSPANG00000028119|transcript|ENSPANT00000030671.1|lincRNA|1/1|n.208+1G>C||||||,C|upstream_gene_variant|MODIFIER|MSX1|ENSPANG00000016782|transcript|ENSPANT00000013120.1|protein_coding||c.-2675C>G|||||2675| 2 1 2 2 2 2 1 2 2 2 2 2 0 2 1 1 0 1 2 0 1 1 2 2 2 2 1 2 0 2 1 1 2 1 1 2 1 1 0 0 1 1 2 1 2 1 2 2 1 1 1 1 2 0 1 1 1 1 2 2 0 2 1 0 1 1 1 1 2 1 2 0 2 2 2 2 2 1 1 0 1 1 2 2 2 1 2 1 1 0 1 1 2 1 1 2 1 2 2 2 5 4468198 G T T|stop_gained&splice_region_variant|HIGH|LYAR|ENSPANG00000021311|transcript|ENSPANT00000022327.1|protein_coding|3/11|c.238G>T|p.Glu80*|238/1068|238/1068|80/355|| 2 2 2 2 2 2 2 2 2 2 2 1 0 2 1 1 2 2 1 2 1 2 2 2 2 0 2 2 2 2 0 1 0 2 1 2 2 1 0 0 1 2 1 2 2 2 2 2 1 2 2 1 2 1 1 2 2 1 2 1 2 0 2 2 2 2 1 2 0 2 0 0 2 1 1 2 0 1 1 1 2 2 2 2 2 2 2 2 2 0 2 1 1 2 2 1 2 2 1 2 5 20882249 C T T|stop_gained|HIGH|ENSPANG00000013372|ENSPANG00000013372|transcript|ENSPANT00000001657.1|protein_coding|8/8|c.1252C>T|p.Gln418*|1252/1551|1252/1551|418/516||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 1 2 0 1 0 1 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 5 32856707 C T T|stop_gained|HIGH|TBC1D1|ENSPANG00000015230|transcript|ENSPANT00000001607.2|protein_coding|21/21|c.3751C>T|p.Arg1251*|3844/3885|3751/3792|1251/1263||,T|stop_gained|HIGH|TBC1D1|ENSPANG00000015230|transcript|ENSPANT00000001608.1|protein_coding|20/20|c.3451C>T|p.Arg1151*|3451/3492|3451/3492|1151/1163|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 34740638 C T T|stop_gained|HIGH|ENSPANG00000024559|ENSPANG00000024559|transcript|ENSPANT00000022241.1|protein_coding|4/4|c.559C>T|p.Arg187*|559/1041|559/1041|187/346||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 5 41258837 G A A|stop_gained|HIGH|GABRA2|ENSPANG00000025578|transcript|ENSPANT00000000221.1|protein_coding|5/10|c.280C>T|p.Arg94*|614/1690|280/1356|94/451|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 43027020 C T T|stop_gained|HIGH|NIPAL1|ENSPANG00000010321|transcript|ENSPANT00000005728.1|protein_coding|2/6|c.112C>T|p.Gln38*|112/1233|112/1233|38/410|| 1 1 1 1 1 2 0 2 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 5 46440602 C T T|stop_gained|HIGH|ENSPANG00000009708|ENSPANG00000009708|transcript|ENSPANT00000000576.1|protein_coding|2/2|c.421C>T|p.Gln141*|421/765|421/765|141/254||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|ENSPANG00000012556|ENSPANG00000012556|transcript|ENSPANT00000000434.1|protein_coding|6/6|c.364-952C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 5 53006919 G A A|stop_gained|HIGH|PPEF2|ENSPANG00000007789|transcript|ENSPANT00000028190.1|protein_coding|9/16|c.843G>A|p.Trp281*|843/2274|843/2274|281/757|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 58140403 C T T|splice_donor_variant&intron_variant|HIGH|RUFY3|ENSPANG00000006247|transcript|ENSPANT00000027704.1|protein_coding|17/17|c.1719+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 5 59504993 G C C|stop_gained|HIGH|UGT2B42|ENSPANG00000015487|transcript|ENSPANT00000020618.1|protein_coding|6/7|c.1155C>G|p.Tyr385*|1155/2929|1155/1587|385/528||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 59724733 G A A|splice_acceptor_variant&intron_variant|HIGH|UGT2B39|ENSPANG00000016827|transcript|ENSPANT00000001062.2|protein_coding|1/5|c.722-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|UGT2B39|ENSPANG00000016827|transcript|ENSPANT00000008382.1|protein_coding|1/5|c.722-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 60545607 C T T|stop_gained|HIGH|TMPRSS11A|ENSPANG00000013421|transcript|ENSPANT00000006253.1|protein_coding|8/9|c.973C>T|p.Arg325*|973/2956|973/1257|325/418||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 5 61176539 A T 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C|stop_gained&splice_region_variant|HIGH|SPATA18|ENSPANG00000009236|transcript|ENSPANT00000008614.1|protein_coding|6/16|c.773C>G|p.Ser258*|773/3687|773/1824|258/607|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 5 86045228 C T T|stop_gained|HIGH|PDLIM5|ENSPANG00000004585|transcript|ENSPANT00000021634.1|protein_coding|8/15|c.556C>T|p.Arg186*|740/1681|556/1497|186/498|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 5 86730327 T C C|start_lost|HIGH|UNC5C|ENSPANG00000000905|transcript|ENSPANT00000010273.1|protein_coding|2/15|c.1A>G|p.Met1?|240/2507|1/2268|1/755|| 2 2 2 2 2 2 2 2 2 2 2 1 0 1 0 1 1 1 1 0 1 1 2 1 0 2 0 2 2 2 1 0 2 2 0 0 1 0 2 0 1 1 2 2 1 1 1 1 0 0 0 2 1 1 1 1 0 0 2 1 1 2 2 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A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000011689|ENSPANG00000011689|transcript|ENSPANT00000021229.1|protein_coding|1/2|c.90+1C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SRD5A1|ENSPANG00000010793|transcript|ENSPANT00000007187.1|protein_coding||c.*4508G>A|||||4508| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 1 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 6 10279449 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000019075|ENSPANG00000019075|transcript|ENSPANT00000017040.1|protein_coding|3/3|c.232+2C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 10452122 C T T|stop_gained|HIGH|DAP|ENSPANG00000009356|transcript|ENSPANT00000028081.1|protein_coding|4/4|c.387G>A|p.Trp129*|698/800|387/489|129/162|| 1 0 1 1 0 1 1 0 0 1 1 0 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 1 0 1 1 0 0 1 1 1 1 2 1 0 0 2 2 0 2 1 1 1 0 1 0 2 1 1 0 0 1 0 2 0 2 1 1 0 0 1 0 2 1 0 1 0 0 1 0 0 2 1 0 1 1 0 1 1 2 1 0 0 0 0 0 1 0 2 0 0 6 13873945 G A A|stop_gained|HIGH|DNAH5|ENSPANG00000010600|transcript|ENSPANT00000011291.1|protein_coding|32/89|c.4201C>T|p.Arg1401*|4201/15450|4201/13785|1401/4594|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 1 1 0 1 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 6 14644514 C A A|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000013389|ENSPANG00000013389|transcript|ENSPANT00000021316.1|protein_coding|1/5|c.547-1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 6 16715033 G A A|stop_gained|HIGH|MYO10|ENSPANG00000002428|transcript|ENSPANT00000005928.1|protein_coding|25/45|c.2605C>T|p.Gln869*|3106/6687|2605/6186|869/2061|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 1 1 NA 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 2 0 0 0 0 1 1 1 1 0 0 0 0 0 0 1 0 1 0 0 6 21633517 C A A|stop_gained|HIGH|CDH12|ENSPANG00000013388|transcript|ENSPANT00000014331.1|protein_coding|7/15|c.445G>T|p.Glu149*|445/1863|445/1863|149/620||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 1 2 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 6 21645083 T G G|splice_acceptor_variant&intron_variant|HIGH|CDH12|ENSPANG00000013388|transcript|ENSPANT00000014331.1|protein_coding|4/14|c.390-2A>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 21645445 G T T|stop_gained|HIGH|CDH12|ENSPANG00000013388|transcript|ENSPANT00000014331.1|protein_coding|4/15|c.356C>A|p.Ser119*|356/1863|356/1863|119/620||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 25619115 G A A|stop_gained|HIGH|PCBP2|ENSPANG00000022646|transcript|ENSPANT00000003346.1|protein_coding|1/3|c.449G>A|p.Trp150*|449/966|449/966|150/321||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|uc_338|ENSPANG00000013582|transcript|ENSPANT00000010765.1|misc_RNA||n.-160G>A|||||160| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 1 0 0 1 0 1 2 1 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 2 1 1 0 1 0 0 0 1 0 2 0 1 0 1 0 0 1 0 0 0 1 0 0 1 0 2 0 2 1 2 1 1 1 1 1 0 0 0 0 0 0 1 0 1 0 1 1 1 0 0 0 1 0 2 1 6 32299781 C T T|stop_gained|HIGH|TMEM183A|ENSPANG00000021406|transcript|ENSPANT00000020531.1|protein_coding|3/4|c.793C>T|p.Gln265*|793/1134|793/1134|265/377||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 38536953 G T T|stop_gained|HIGH|ENSPANG00000008591|ENSPANG00000008591|transcript|ENSPANT00000019996.1|protein_coding|1/1|c.10G>T|p.Gly4*|282/802|10/237|4/78||WARNING_TRANSCRIPT_NO_START_CODON,T|3_prime_UTR_variant|MODIFIER|FYB|ENSPANG00000019520|transcript|ENSPANT00000011207.1|protein_coding|20/20|c.*1871C>A|||||1871| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 6 38537005 C A A|stop_gained|HIGH|ENSPANG00000008591|ENSPANG00000008591|transcript|ENSPANT00000019996.1|protein_coding|1/1|c.62C>A|p.Ser21*|334/802|62/237|21/78||WARNING_TRANSCRIPT_NO_START_CODON,A|3_prime_UTR_variant|MODIFIER|FYB|ENSPANG00000019520|transcript|ENSPANT00000011207.1|protein_coding|20/20|c.*1819G>T|||||1819| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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C|splice_donor_variant&intron_variant|HIGH|TRAPPC13|ENSPANG00000010964|transcript|ENSPANT00000011903.1|protein_coding|12/12|c.1146+2T>C||||||,C|downstream_gene_variant|MODIFIER|SGTB|ENSPANG00000018405|transcript|ENSPANT00000000638.1|protein_coding||c.*6328A>G|||||4319| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 65081895 G A A|stop_gained|HIGH|CCDC125|ENSPANG00000012021|transcript|ENSPANT00000027985.1|protein_coding|3/13|c.16C>T|p.Arg6*|362/1606|16/1260|6/419|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 67121574 G C C|splice_donor_variant&intron_variant|HIGH|FCHO2|ENSPANG00000014043|transcript|ENSPANT00000026644.1|protein_coding|20/30|c.1487+1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 1 0 1 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 6 68843736 C T T|stop_gained|HIGH|GFM2|ENSPANG00000013600|transcript|ENSPANT00000021509.2|protein_coding|5/24|c.146G>A|p.Trp49*|1073/3339|146/2412|49/803||,T|5_prime_UTR_variant|MODIFIER|GFM2|ENSPANG00000013600|transcript|ENSPANT00000000635.1|protein_coding|1/21|c.-11G>A|||||11|,T|upstream_gene_variant|MODIFIER|NSA2|ENSPANG00000013346|transcript|ENSPANT00000022727.1|protein_coding||c.-3449C>T|||||3374| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 70455476 C T T|stop_gained|HIGH|SNRPC|ENSPANG00000018228|transcript|ENSPANT00000001239.1|protein_coding|1/1|c.466C>T|p.Arg156*|466/480|466/480|156/159|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 6 73576810 G T T|stop_gained|HIGH|ENSPANG00000019556|ENSPANG00000019556|transcript|ENSPANT00000016208.1|protein_coding|1/1|c.88G>T|p.Glu30*|88/468|88/468|30/155||,T|intron_variant|MODIFIER|HOMER1|ENSPANG00000013223|transcript|ENSPANT00000027818.1|protein_coding|1/8|c.5+2225C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 73818711 T C C|stop_lost|HIGH|ENSPANG00000006609|ENSPANG00000006609|transcript|ENSPANT00000010859.1|protein_coding|7/7|c.10954T>C|p.Ter3652Argext*?|10954/13415|10954/10956|3652/3651|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 91068571 G A A|stop_gained|HIGH|ENSPANG00000011934|ENSPANG00000011934|transcript|ENSPANT00000003951.1|protein_coding|1/3|c.232C>T|p.Gln78*|232/834|232/834|78/277|| 1 0 0 1 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 6 96184936 G C C|splice_donor_variant&intron_variant|HIGH|SLCO6A1|ENSPANG00000020937|transcript|ENSPANT00000015440.1|protein_coding|3/9|c.838+2C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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T|stop_gained|HIGH|ZRSR1|ENSPANG00000009346|transcript|ENSPANT00000016578.1|protein_coding|3/3|c.847C>T|p.Arg283*|847/1389|847/1389|283/462||,T|intron_variant|MODIFIER|REEP5|ENSPANG00000003025|transcript|ENSPANT00000005146.1|protein_coding|3/4|c.352-5389G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 113499510 A G G|start_lost|HIGH|ENSPANG00000004205|ENSPANG00000004205|transcript|ENSPANT00000014203.1|protein_coding|1/1|c.2T>C|p.Met1?|2/483|2/483|1/160|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 117248492 T G G|splice_acceptor_variant&intron_variant|HIGH|CEP120|ENSPANG00000008620|transcript|ENSPANT00000005175.1|protein_coding|1/21|c.-32-2A>C|||||| 0 0 0 0 0 0 0 0 0 0 0 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T|splice_acceptor_variant&intron_variant|HIGH|CDC42SE2|ENSPANG00000006469|transcript|ENSPANT00000019448.1|protein_coding|1/3|c.47-1C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 125778189 G A A|stop_gained|HIGH|P4HA2|ENSPANG00000003024|transcript|ENSPANT00000008449.2|protein_coding|14/18|c.1540C>T|p.Arg514*|1540/1740|1540/1740|514/579||,A|3_prime_UTR_variant|MODIFIER|P4HA2|ENSPANG00000003024|transcript|ENSPANT00000001496.1|protein_coding|13/13|c.*1652C>T|||||1652| 0 1 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 1 0 0 0 0 0 0 6 128375164 G T T|stop_gained|HIGH|DDX46|ENSPANG00000025084|transcript|ENSPANT00000002471.1|protein_coding|9/31|c.517G>T|p.Glu173*|715/3306|517/3108|173/1035|| 0 0 0 0 0 0 0 0 0 0 0 0 1 2 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 6 131750775 C G G|splice_donor_variant&intron_variant|HIGH|CDC23|ENSPANG00000006158|transcript|ENSPANT00000002459.1|protein_coding|4/15|c.415+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 132935746 C T T|stop_gained|HIGH|MZB1|ENSPANG00000011664|transcript|ENSPANT00000016128.1|protein_coding|2/4|c.294G>A|p.Trp98*|294/564|294/564|98/187||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|PROB1|ENSPANG00000007176|transcript|ENSPANT00000021175.1|protein_coding||c.*3524G>A|||||3521|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 133453203 C G G|stop_gained|HIGH|ENSPANG00000013950|ENSPANG00000013950|transcript|ENSPANT00000016468.1|protein_coding|1/1|c.668C>G|p.Ser223*|668/990|668/990|223/329|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 1 0 0 1 0 0 0 1 1 0 0 1 0 1 1 0 0 1 1 0 0 1 1 1 1 0 0 0 1 1 1 0 1 0 1 0 0 1 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 1 1 0 0 0 6 134664458 C T T|stop_gained|HIGH|PCDHB7|ENSPANG00000001214|transcript|ENSPANT00000018233.1|protein_coding|1/1|c.1231C>T|p.Arg411*|1231/2388|1231/2388|411/795||,T|upstream_gene_variant|MODIFIER|PCDHB8|ENSPANG00000011661|transcript|ENSPANT00000013054.1|protein_coding||c.-3993C>T|||||3993| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 6 141603105 A T T|splice_donor_variant&intron_variant|HIGH|SPINK5|ENSPANG00000007092|transcript|ENSPANT00000009604.1|protein_coding|40/43|c.2817+2A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 2 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 2 0 1 0 6 143682068 C T T|stop_gained|HIGH|PDGFRB|ENSPANG00000023735|transcript|ENSPANT00000013200.1|protein_coding|21/22|c.2910G>A|p.Trp970*|2916/3339|2910/3333|970/1110|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 143938552 G T T|splice_donor_variant&intron_variant|HIGH|TCOF1|ENSPANG00000021403|transcript|ENSPANT00000006628.1|protein_coding|14/26|c.2334+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 145301154 T C C|splice_donor_variant&intron_variant|HIGH|G3BP1|ENSPANG00000017662|transcript|ENSPANT00000028306.1|protein_coding|1/11|c.-50+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 6 152951039 C T T|stop_gained|HIGH|ENSPANG00000007082|ENSPANG00000007082|transcript|ENSPANT00000000822.1|protein_coding|1/1|c.386G>A|p.Trp129*|386/411|386/411|129/136|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 6 152951094 G A A|stop_gained|HIGH|ENSPANG00000007082|ENSPANG00000007082|transcript|ENSPANT00000000822.1|protein_coding|1/1|c.331C>T|p.Arg111*|331/411|331/411|111/136|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 6 156916984 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000009830|ENSPANG00000009830|transcript|ENSPANT00000024151.1|protein_coding|7/10|c.724+2G>A||||||,A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000009830|ENSPANG00000009830|transcript|ENSPANT00000014713.2|protein_coding|7/10|c.691+2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 NA 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 6 161982894 C T T|stop_gained|HIGH|ENSPANG00000004784|ENSPANG00000004784|transcript|ENSPANT00000007495.1|protein_coding|1/1|c.79C>T|p.Arg27*|79/408|79/408|27/135||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|PANK3|ENSPANG00000007635|transcript|ENSPANT00000003651.1|protein_coding||c.-2559G>A|||||2514| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 6 165133286 G T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000023644|ENSPANG00000023644|transcript|ENSPANT00000003431.1|protein_coding|1/3|c.136+1G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 1 0 6 171099794 C T T|stop_gained|HIGH|ENSPANG00000007887|ENSPANG00000007887|transcript|ENSPANT00000015476.1|protein_coding|2/2|c.175C>T|p.Gln59*|175/186|175/186|59/61||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 6 172046789 C T T|stop_gained|HIGH|ENSPANG00000007312|ENSPANG00000007312|transcript|ENSPANT00000001820.1|protein_coding|1/5|c.130C>T|p.Gln44*|130/1038|130/1038|44/345||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 6 172919892 T A A|splice_donor_variant&intron_variant|HIGH|CANX|ENSPANG00000013567|transcript|ENSPANT00000021272.1|protein_coding|1/14|c.231+2T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 6 173082093 T C C|splice_donor_variant&intron_variant|HIGH|C5orf45|ENSPANG00000002750|transcript|ENSPANT00000014984.1|protein_coding|6/6|c.537+1A>G||||||,C|downstream_gene_variant|MODIFIER|SQSTM1|ENSPANG00000012011|transcript|ENSPANT00000006416.1|protein_coding||c.*4294T>C|||||4294| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 1 0 2 1 1 0 2 2 1 2 1 2 2 2 2 1 2 2 1 1 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 0 2 2 2 2 2 2 2 2 2 2 1 6 173565220 T C C|splice_acceptor_variant&intron_variant|HIGH|GFPT2|ENSPANG00000016006|transcript|ENSPANT00000008635.1|protein_coding|10/15|c.959-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 173979653 C T T|stop_gained|HIGH|OR2Y1|ENSPANG00000003356|transcript|ENSPANT00000002545.1|protein_coding|1/1|c.60G>A|p.Trp20*|60/936|60/936|20/311|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 174230379 C T T|stop_gained|HIGH|OR2V2|ENSPANG00000005702|transcript|ENSPANT00000009543.1|protein_coding|1/2|c.481C>T|p.Gln161*|481/948|481/948|161/315||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 7 25942 G C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|2/21|c.313+1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.-3850G>C|||||3850|,C|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-4998G>C|||||4998| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 7 27387 C T T|stop_gained|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|6/22|c.628C>T|p.Gln210*|628/2094|628/2094|210/697||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.-2405C>T|||||2405|,T|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-3553C>T|||||3553| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 7 27852 C T T|stop_gained|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|7/22|c.727C>T|p.Gln243*|727/2094|727/2094|243/697||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.-1940C>T|||||1940|,T|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-3088C>T|||||3088| 1 0 0 1 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 2 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 7 29343 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|8/21|c.931-2G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.-449G>A|||||449|,A|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-1597G>A|||||1597| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 7 29455 G C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|9/21|c.1027-1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.-337G>C|||||337|,C|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-1485G>C|||||1485| 1 0 0 1 0 1 0 0 0 1 1 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 1 0 1 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 1 0 1 0 2 0 1 1 0 2 1 0 1 0 0 2 0 0 0 0 0 0 1 NA 0 0 0 0 0 0 1 1 0 0 0 2 0 1 1 7 30916 G C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000020137|ENSPANG00000020137|transcript|ENSPANT00000022397.1|protein_coding|14/21|c.1612-1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ENSPANG00000001807|ENSPANG00000001807|transcript|ENSPANT00000003451.1|miRNA||n.-24G>C|||||24|,C|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000021808|transcript|ENSPANT00000004668.1|misc_RNA||n.*847G>C|||||847| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 7 4386032 G T T|splice_donor_variant&intron_variant|HIGH|HERC2|ENSPANG00000020118|transcript|ENSPANT00000028890.1|protein_coding|10/103|c.462+1C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 7 6153260 G A A|splice_donor_variant&intron_variant|HIGH|KLF13|ENSPANG00000019999|transcript|ENSPANT00000021782.1|protein_coding|5/10|c.445+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 2 2 0 0 0 1 0 1 0 1 0 1 1 0 0 0 1 0 0 2 0 1 0 1 1 0 1 1 0 2 1 1 2 0 1 0 0 1 0 1 0 1 0 0 0 1 0 0 0 1 0 0 1 0 0 0 1 0 0 1 1 0 1 0 2 0 0 0 0 1 0 0 1 1 0 1 0 0 0 0 0 1 0 0 0 7 6158922 G A A|stop_gained|HIGH|KLF13|ENSPANG00000019999|transcript|ENSPANT00000021782.1|protein_coding|7/11|c.534G>A|p.Trp178*|534/888|534/888|178/295|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 11152719 G A A|stop_gained&splice_region_variant|HIGH|ENSPANG00000019596|ENSPANG00000019596|transcript|ENSPANT00000027002.1|protein_coding|2/5|c.85C>T|p.Arg29*|85/1074|85/1074|29/357||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000019427|transcript|ENSPANT00000015916.1|misc_RNA||n.-2061C>T|||||2061|,A|intron_variant|MODIFIER|C15orf41|ENSPANG00000019620|transcript|ENSPANT00000010324.2|protein_coding|1/11|c.102-17776G>A||||||,A|intron_variant|MODIFIER|C15orf41|ENSPANG00000019620|transcript|ENSPANT00000023294.1|protein_coding|1/10|c.102-17776G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 7 12024476 C G G|stop_gained|HIGH|RPS15|ENSPANG00000019602|transcript|ENSPANT00000026157.1|protein_coding|2/2|c.366C>G|p.Tyr122*|366/426|366/426|122/141||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 NA 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 7 15923177 T C C|splice_donor_variant&intron_variant|HIGH|NUSAP1|ENSPANG00000018944|transcript|ENSPANT00000007344.2|protein_coding|9/14|c.1038+2T>C||||||,C|intron_variant|MODIFIER|NUSAP1|ENSPANG00000018944|transcript|ENSPANT00000007345.1|protein_coding|8/9|c.970+1798T>C|||||| 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA NA 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 NA NA NA NA 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 NA 0 0 0 NA 0 0 7 16072514 C A A|stop_gained|HIGH|LTK|ENSPANG00000018808|transcript|ENSPANT00000002092.1|protein_coding|3/21|c.193G>T|p.Glu65*|193/2595|193/2595|65/864||,A|downstream_gene_variant|MODIFIER|RPAP1|ENSPANG00000018792|transcript|ENSPANT00000003703.2|protein_coding||c.*4160G>T|||||4160|,A|downstream_gene_variant|MODIFIER|RPAP1|ENSPANG00000018792|transcript|ENSPANT00000003704.1|protein_coding||c.*4160G>T|||||4160| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 7 16463536 C A A|stop_gained|HIGH|SPTBN5|ENSPANG00000018718|transcript|ENSPANT00000018522.1|protein_coding|17/61|c.3091G>T|p.Glu1031*|3091/9711|3091/9711|1031/3236||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 16652884 T C C|splice_acceptor_variant&intron_variant|HIGH|PLA2G4D|ENSPANG00000018649|transcript|ENSPANT00000010693.1|protein_coding|16/20|c.1706-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 2 1 2 1 2 1 1 1 2 2 2 2 2 1 2 2 2 2 2 2 2 1 2 2 2 2 2 1 2 2 1 2 2 1 1 2 2 2 2 2 2 1 2 2 2 2 1 2 1 2 2 2 1 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 0 2 2 2 2 2 2 2 2 2 2 1 2 2 1 2 1 2 1 2 2 1 2 2 2 2 2 1 2 7 18195134 C T T|splice_donor_variant&intron_variant|HIGH|STRC|ENSPANG00000018278|transcript|ENSPANT00000026463.1|protein_coding|6/24|c.657+1G>A|||||| 1 1 1 1 1 1 1 1 1 1 1 0 0 1 0 0 1 1 1 1 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 1 0 0 0 1 0 0 1 1 0 0 0 1 0 1 0 0 0 1 0 0 0 1 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 1 0 1 1 1 0 0 1 0 0 0 0 1 1 0 0 0 0 0 7 19057971 C A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000018029|ENSPANG00000018029|transcript|ENSPANT00000011670.1|protein_coding|2/11|c.38+2C>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 19433663 G C C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|DUOXA1|ENSPANG00000017916|transcript|ENSPANT00000011672.1|protein_coding|7/8|c.1102-2C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|DUOX2|ENSPANG00000017925|transcript|ENSPANT00000016365.1|protein_coding||c.-4579C>G|||||4579|,C|downstream_gene_variant|MODIFIER|DUOXA2|ENSPANG00000017915|transcript|ENSPANT00000007578.1|protein_coding||c.*28G>C|||||28| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 19481021 G A A|splice_acceptor_variant&intron_variant|HIGH|DUOX1|ENSPANG00000017834|transcript|ENSPANT00000011674.1|protein_coding|32/32|c.4534-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|SHF|ENSPANG00000017835|transcript|ENSPANT00000011675.1|protein_coding||c.*3121C>T|||||3121| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 19573727 C T T|stop_gained|HIGH|SLC28A2|ENSPANG00000017836|transcript|ENSPANT00000011676.1|protein_coding|2/17|c.166C>T|p.Gln56*|324/2135|166/1977|56/658|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 19587879 G C C|splice_acceptor_variant&intron_variant|HIGH|SLC28A2|ENSPANG00000017836|transcript|ENSPANT00000011676.1|protein_coding|5/16|c.589-1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 7 19587975 G A A|stop_gained|HIGH|SLC28A2|ENSPANG00000017836|transcript|ENSPANT00000011676.1|protein_coding|6/17|c.684G>A|p.Trp228*|842/2135|684/1977|228/658|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 24806530 G A A|stop_gained|HIGH|USP50|ENSPANG00000017629|transcript|ENSPANT00000025397.1|protein_coding|1/7|c.13C>T|p.Arg5*|13/1122|13/1122|5/373|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 25334300 G A A|stop_gained|HIGH|TNFAIP8L3|ENSPANG00000017518|transcript|ENSPANT00000025509.1|protein_coding|1/3|c.13C>T|p.Gln5*|13/879|13/879|5/292|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 26697501 C T T|stop_gained|HIGH|ENSPANG00000017407|ENSPANG00000017407|transcript|ENSPANT00000020410.1|protein_coding|2/3|c.205C>T|p.Arg69*|205/813|205/813|69/270||,T|intron_variant|MODIFIER|MYO5A|ENSPANG00000017406|transcript|ENSPANT00000025506.1|protein_coding|1/40|c.28-36448G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 7 26722919 C T T|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000017408|ENSPANG00000017408|transcript|ENSPANT00000024086.1|pseudogene|1/2|n.276+2C>T||||||,T|intron_variant|MODIFIER|MYO5A|ENSPANG00000017406|transcript|ENSPANT00000025506.1|protein_coding|1/40|c.27+22419G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 27901352 G A A|splice_acceptor_variant&intron_variant|HIGH|WDR72|ENSPANG00000017318|transcript|ENSPANT00000003535.2|protein_coding|9/19|c.955-2C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|WDR72|ENSPANG00000017318|transcript|ENSPANT00000028200.1|protein_coding|8/19|c.955-8C>T|||||| 2 1 1 1 1 2 2 1 2 2 2 1 1 1 1 0 2 0 0 0 0 0 1 0 2 1 1 1 2 0 0 0 0 2 0 1 2 0 2 1 1 1 0 0 0 1 1 2 0 1 1 0 1 0 0 0 1 0 1 0 0 0 2 0 1 1 0 1 0 2 1 0 0 0 0 1 0 1 0 1 1 1 1 1 0 0 0 2 0 0 1 0 1 1 0 1 1 0 0 0 7 36570903 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000017061|ENSPANG00000017061|transcript|ENSPANT00000015238.1|protein_coding|3/4|c.174+1T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 0 1 1 2 1 2 2 2 2 2 1 1 1 1 2 1 1 2 2 2 2 1 2 2 2 1 2 2 2 0 2 2 0 1 1 0 0 1 0 2 2 2 2 1 1 2 1 0 2 2 2 2 1 1 2 2 2 2 2 1 2 2 1 1 2 2 0 0 2 2 0 1 2 2 2 2 2 1 1 2 2 7 36571174 C A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000017061|ENSPANG00000017061|transcript|ENSPANT00000015238.1|protein_coding|1/4|c.38-1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 0 0 0 0 0 0 1 0 1 1 1 0 0 1 0 0 0 2 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 2 1 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 2 0 7 36848333 G A A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000017012|ENSPANG00000017012|transcript|ENSPANT00000011721.1|protein_coding|3/3|c.322-1C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|TLN2|ENSPANG00000017011|transcript|ENSPANT00000011719.2|protein_coding|1/56|c.-36-8676G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 7 41516577 G A A|stop_gained|HIGH|ENSPANG00000016854|ENSPANG00000016854|transcript|ENSPANT00000023148.1|protein_coding|1/1|c.124C>T|p.Gln42*|124/186|124/186|42/61||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SMAD3|ENSPANG00000016627|transcript|ENSPANT00000010320.1|protein_coding|1/9|c.207-21984G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 48697792 G A A|splice_donor_variant&intron_variant|HIGH|CCDC33|ENSPANG00000016013|transcript|ENSPANT00000018982.1|protein_coding|1/20|c.310+1G>A|||||| 0 1 1 0 1 0 0 1 0 0 0 0 1 0 1 0 1 0 0 0 1 1 1 0 1 0 0 0 0 0 0 0 0 2 0 0 1 0 0 2 0 1 0 0 0 0 1 1 1 1 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 1 0 0 0 0 1 0 1 1 1 0 1 0 0 1 0 0 0 1 1 0 1 0 0 0 1 0 0 7 49252403 C T T|stop_gained|HIGH|CYP1A2|ENSPANG00000015999|transcript|ENSPANT00000004824.1|protein_coding|5/7|c.1189C>T|p.Arg397*|1189/1611|1189/1611|397/536||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 49328332 C T T|stop_gained|HIGH|LMAN1L|ENSPANG00000016001|transcript|ENSPANT00000003529.1|protein_coding|2/14|c.322C>T|p.Gln108*|734/1981|322/1569|108/522|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 49552405 A G G|start_lost|HIGH|PPCDC|ENSPANG00000015962|transcript|ENSPANT00000004822.1|protein_coding|1/5|c.1A>G|p.Met1?|1/666|1/666|1/221|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 7 49803438 C T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000015899|ENSPANG00000015899|transcript|ENSPANT00000007243.1|protein_coding|18/32|c.1405-1C>T||||||,T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026652|transcript|ENSPANT00000005450.1|misc_RNA||n.-2056C>T|||||2056|,T|upstream_gene_variant|MODIFIER|ENSPANG00000002458|ENSPANG00000002458|transcript|ENSPANT00000003599.1|miRNA||n.-3209C>T|||||3209| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 1 1 2 1 0 1 0 1 2 0 1 0 0 0 0 2 1 0 0 0 0 1 0 1 0 0 0 1 0 1 0 2 1 0 2 1 0 0 0 1 1 2 1 0 0 0 2 2 0 1 0 2 0 1 1 1 0 1 0 1 0 0 1 0 1 2 0 0 0 0 1 0 0 7 49806450 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000015899|ENSPANG00000015899|transcript|ENSPANT00000007243.1|protein_coding|28/32|c.2352+1G>A||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000002458|ENSPANG00000002458|transcript|ENSPANT00000003599.1|miRNA||n.-197G>A|||||197|,A|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026652|transcript|ENSPANT00000005450.1|misc_RNA||n.*704G>A|||||704| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 1 2 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 7 50330467 A G G|splice_acceptor_variant&intron_variant|HIGH|UBE2Q2|ENSPANG00000015898|transcript|ENSPANT00000028142.1|protein_coding|5/14|c.433-2A>G||||||,G|intron_variant|MODIFIER|UBE2Q2|ENSPANG00000015898|transcript|ENSPANT00000027498.2|protein_coding|4/12|c.448-522A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 7 52495156 G T T|stop_gained|HIGH|ENSPANG00000015841|ENSPANG00000015841|transcript|ENSPANT00000027497.1|protein_coding|2/2|c.373G>T|p.Glu125*|373/972|373/972|125/323||,T|downstream_gene_variant|MODIFIER|CIB2|ENSPANG00000015842|transcript|ENSPANT00000009973.1|protein_coding||c.*4273C>A|||||4273| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 53393731 C T T|splice_acceptor_variant&intron_variant|HIGH|CTSH|ENSPANG00000015769|transcript|ENSPANT00000002147.1|protein_coding|9/11|c.703-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 57151884 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000015636|ENSPANG00000015636|transcript|ENSPANT00000024130.1|protein_coding|8/21|c.640-1G>A||||||,T|upstream_gene_variant|MODIFIER|ENSPANG00000026554|ENSPANG00000026554|transcript|ENSPANT00000010522.1|miRNA||n.-770G>A|||||770| 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 1 0 0 0 0 7 57152037 G A A|stop_gained|HIGH|ENSPANG00000015636|ENSPANG00000015636|transcript|ENSPANT00000024130.1|protein_coding|8/22|c.592C>T|p.Gln198*|592/2795|592/1974|198/657||,A|upstream_gene_variant|MODIFIER|ENSPANG00000026554|ENSPANG00000026554|transcript|ENSPANT00000010522.1|miRNA||n.-923C>T|||||923| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 7 63315625 C T T|stop_gained|HIGH|ACAN|ENSPANG00000025598|transcript|ENSPANT00000006666.1|protein_coding|16/16|c.6718C>T|p.Gln2240*|6818/6880|6718/6780|2240/2259||,T|downstream_gene_variant|MODIFIER|HAPLN3|ENSPANG00000025601|transcript|ENSPANT00000016390.1|protein_coding||c.*4749G>A|||||4749|,T|intron_variant|MODIFIER|ACAN|ENSPANG00000025598|transcript|ENSPANT00000006664.2|protein_coding|17/18|c.6481+177C>T|||||| 1 2 1 1 1 2 1 2 2 1 1 2 1 1 0 0 1 2 2 2 1 0 0 0 2 1 2 1 0 0 2 1 1 1 0 1 2 2 2 0 1 0 1 1 1 1 0 0 0 2 1 2 0 1 1 0 2 1 1 2 0 0 2 2 0 1 1 1 0 0 1 2 1 1 0 2 1 1 1 1 0 2 0 1 1 0 0 2 1 2 0 1 0 2 1 0 1 0 1 0 7 64709523 C T T|stop_gained|HIGH|GDPGP1|ENSPANG00000007726|transcript|ENSPANT00000010132.1|protein_coding|1/1|c.535C>T|p.Gln179*|535/1155|535/1155|179/384||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 64786259 G A A|splice_acceptor_variant&intron_variant|HIGH|ZNF774|ENSPANG00000021465|transcript|ENSPANT00000014200.1|protein_coding|1/2|c.105-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 7 66550416 G T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000014251|ENSPANG00000014251|transcript|ENSPANT00000002199.1|protein_coding|3/4|c.553-1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 7 75206176 T A A|splice_donor_variant&intron_variant|HIGH|ALDH1A3|ENSPANG00000020509|transcript|ENSPANT00000023808.1|protein_coding|10/16|c.1120+1T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 2 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 7 75468567 G A A|stop_gained|HIGH|CHSY1|ENSPANG00000011169|transcript|ENSPANT00000002192.1|protein_coding|4/4|c.1930C>T|p.Arg644*|1930/2412|1930/2412|644/803||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 0 0 1 NA 0 1 0 0 0 0 NA 0 0 NA 1 0 0 NA 0 0 0 0 0 0 0 0 0 7 76027452 C T T|splice_donor_variant&intron_variant|HIGH|TARSL2|ENSPANG00000022401|transcript|ENSPANT00000009970.1|protein_coding|2/24|c.-502+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 7 76048920 G A A|stop_gained|HIGH|ENSPANG00000020507|ENSPANG00000020507|transcript|ENSPANT00000023804.1|protein_coding|26/33|c.2149C>T|p.Gln717*|2149/2649|2149/2649|717/882||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|ENSPANG00000003918|ENSPANG00000003918|transcript|ENSPANT00000004841.1|miRNA||n.-208C>T|||||208|,A|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026713|transcript|ENSPANT00000021105.1|misc_RNA||n.*684C>T|||||684| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 76052262 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020507|ENSPANG00000020507|transcript|ENSPANT00000023804.1|protein_coding|19/32|c.1252+1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ENSPANG00000003918|ENSPANG00000003918|transcript|ENSPANT00000004841.1|miRNA||n.-3550G>C|||||3550|,G|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026713|transcript|ENSPANT00000021105.1|misc_RNA||n.-2422G>C|||||2422| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 7 76052582 C T T|stop_gained|HIGH|ENSPANG00000020507|ENSPANG00000020507|transcript|ENSPANT00000023804.1|protein_coding|18/33|c.1134G>A|p.Trp378*|1134/2649|1134/2649|378/882||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000003918|ENSPANG00000003918|transcript|ENSPANT00000004841.1|miRNA||n.-3870G>A|||||3870|,T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026713|transcript|ENSPANT00000021105.1|misc_RNA||n.-2742G>A|||||2742| 1 0 1 1 0 0 1 0 0 1 1 0 0 1 1 2 1 1 1 1 0 1 1 1 0 0 1 1 0 0 0 1 0 0 2 0 0 0 0 0 0 1 1 0 1 1 1 0 2 2 1 0 1 2 0 0 1 0 1 1 0 0 0 0 0 1 0 0 0 1 0 0 1 1 2 1 0 0 0 0 1 2 2 0 1 0 2 2 0 0 1 0 0 0 0 0 1 1 0 2 7 76055701 C A A|stop_gained&splice_region_variant|HIGH|ENSPANG00000020507|ENSPANG00000020507|transcript|ENSPANT00000023804.1|protein_coding|8/33|c.433G>T|p.Glu145*|433/2649|433/2649|145/882||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 0 0 7 76219563 C T T|stop_gained|HIGH|ENSPANG00000019439|ENSPANG00000019439|transcript|ENSPANT00000023558.1|protein_coding|1/1|c.70C>T|p.Arg24*|70/933|70/933|24/310||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 7 76306078 T C C|stop_lost&splice_region_variant|HIGH|ENSPANG00000022763|ENSPANG00000022763|transcript|ENSPANT00000026673.1|protein_coding|3/3|c.875A>G|p.Ter292Trpext*?|875/876|875/876|292/291||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 NA 0 0 NA 0 0 1 1 0 1 1 0 0 2 2 1 2 1 2 2 0 0 1 0 0 2 2 0 1 2 1 0 2 0 1 2 1 1 NA 1 0 2 1 0 0 1 2 1 0 0 0 1 1 2 1 1 0 0 2 0 0 1 0 0 0 0 0 1 0 1 1 0 1 0 1 0 1 1 NA 1 0 0 1 0 1 1 1 1 0 0 1 1 0 1 1 7 76638820 G A A|stop_gained|HIGH|OR4K2|ENSPANG00000018568|transcript|ENSPANT00000017846.1|protein_coding|1/2|c.691C>T|p.Arg231*|691/960|691/960|231/319||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 1 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 7 76683044 G A A|stop_gained|HIGH|OR4N2|ENSPANG00000018896|transcript|ENSPANT00000003425.1|protein_coding|1/1|c.676C>T|p.Arg226*|676/909|676/909|226/302||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 2 0 0 2 1 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 7 76867602 C T T|stop_gained|HIGH|ENSPANG00000007305|ENSPANG00000007305|transcript|ENSPANT00000016202.1|protein_coding|1/1|c.331C>T|p.Arg111*|331/894|331/894|111/297||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 76867703 G A A|stop_gained|HIGH|ENSPANG00000007305|ENSPANG00000007305|transcript|ENSPANT00000016202.1|protein_coding|1/1|c.432G>A|p.Trp144*|432/894|432/894|144/297||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 76886205 G A A|stop_gained|HIGH|OR11G2|ENSPANG00000002487|transcript|ENSPANT00000005509.1|protein_coding|1/1|c.324G>A|p.Trp108*|324/1029|324/1029|108/342||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 77011716 A G G|stop_lost|HIGH|TEP1|ENSPANG00000024122|transcript|ENSPANT00000020162.1|protein_coding|54/54|c.7759T>C|p.Ter2587Argext*?|7783/7785|7759/7761|2587/2586||,G|splice_acceptor_variant&intron_variant|HIGH|TEP1|ENSPANG00000024122|transcript|ENSPANT00000028725.2|protein_coding|55/55|c.7740-2T>C|||||| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 0 2 0 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 1 2 2 1 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 1 1 2 2 2 2 2 2 2 2 2 7 77076379 G A A|stop_gained|HIGH|KLHL33|ENSPANG00000021796|transcript|ENSPANT00000026676.1|protein_coding|1/3|c.679C>T|p.Gln227*|679/1602|679/1602|227/533|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 78038036 A G G|splice_donor_variant&intron_variant|HIGH|CHD8|ENSPANG00000011742|transcript|ENSPANT00000008163.1|protein_coding|10/37|c.2364+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 7 78195257 C T T|stop_gained|HIGH|OR10G3|ENSPANG00000022541|transcript|ENSPANT00000020530.1|protein_coding|1/1|c.449G>A|p.Trp150*|449/939|449/939|150/312||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 1 0 0 1 0 0 0 1 2 2 1 1 1 2 0 0 1 2 0 2 2 0 1 1 1 0 0 1 0 2 1 0 1 0 1 2 1 1 0 1 0 2 1 1 2 0 0 0 1 0 1 0 1 0 1 1 2 0 0 0 2 1 0 2 0 1 0 0 0 0 2 1 0 2 0 2 1 1 2 1 1 0 1 0 1 0 1 1 0 1 1 0 0 1 1 0 7 78253861 A T T|stop_gained|HIGH|OR10G2|ENSPANG00000016418|transcript|ENSPANT00000018166.1|protein_coding|1/1|c.375T>A|p.Tyr125*|375/930|375/930|125/309||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TRAV1-2|ENSPANG00000020007|transcript|ENSPANT00000008111.1|protein_coding|1/1|c.44-9174A>T|||||| 2 1 1 2 1 2 2 1 2 2 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 1 0 0 1 1 1 0 0 0 1 7 78254021 G T T|stop_gained|HIGH|OR10G2|ENSPANG00000016418|transcript|ENSPANT00000018166.1|protein_coding|1/1|c.215C>A|p.Ser72*|215/930|215/930|72/309||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TRAV1-2|ENSPANG00000020007|transcript|ENSPANT00000008111.1|protein_coding|1/1|c.44-9014G>T|||||| 0 1 1 0 1 0 0 1 0 0 0 1 1 1 1 0 1 0 2 1 2 0 1 0 2 0 0 2 1 0 0 1 0 1 2 1 1 0 0 2 1 1 1 0 2 1 1 1 2 1 1 0 0 2 0 2 1 1 1 1 2 0 1 0 2 2 1 1 0 2 0 0 2 0 2 2 0 2 0 1 1 2 1 0 1 1 2 1 2 1 0 1 0 1 0 0 1 1 1 1 7 78339209 C T T|stop_gained|HIGH|TRAV2|ENSPANG00000020008|transcript|ENSPANT00000018975.1|protein_coding|2/2|c.265C>T|p.Arg89*|265/336|265/336|89/111||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 78348489 C T T|stop_gained|HIGH|TRAV3|ENSPANG00000020009|transcript|ENSPANT00000025672.1|protein_coding|2/2|c.73C>T|p.Gln25*|73/342|73/342|25/113||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 7 78391918 T C C|start_lost|HIGH|TRAV6|ENSPANG00000011163|transcript|ENSPANT00000020161.1|protein_coding|1/2|c.2T>C|p.Met1?|429/3839|2/501|1/166|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 78463886 A G G|start_lost|HIGH|ENSPANG00000020829|ENSPANG00000020829|transcript|ENSPANT00000026797.1|protein_coding|1/2|c.1A>G|p.Met1?|752/4208|1/393|1/130||,G|downstream_gene_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000012214.2|protein_coding||c.*4945A>G|||||4814|,G|intron_variant|MODIFIER|TRAV9-2|ENSPANG00000020826|transcript|ENSPANT00000025119.1|protein_coding|2/2|c.225+33793A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000024859.1|protein_coding|1/2|c.49+5494A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|intron_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000026798.1|protein_coding|1/1|c.49+5494A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 7 78493400 T C C|stop_lost|HIGH|TRAV13-1|ENSPANG00000023392|transcript|ENSPANT00000021389.1|protein_coding|2/2|c.430T>C|p.Ter144Glnext*?|600/1560|430/432|144/143||,C|intron_variant|MODIFIER|TRAV9-2|ENSPANG00000020826|transcript|ENSPANT00000025119.1|protein_coding|2/2|c.225+63307T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000024859.1|protein_coding|1/2|c.50-22122T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000026798.1|protein_coding|1/1|c.50-22122T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 78541857 A T T|stop_lost|HIGH|TRAV13-2|ENSPANG00000009945|transcript|ENSPANT00000004747.1|protein_coding|2/2|c.441A>T|p.Ter147Tyrext*?|441/3082|441/441|147/146||,T|intron_variant|MODIFIER|TRAV9-2|ENSPANG00000020826|transcript|ENSPANT00000025119.1|protein_coding|2/2|c.226-24085A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TRAV12-1|ENSPANG00000020828|transcript|ENSPANT00000024859.1|protein_coding|2/2|c.105+26280A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 1 0 1 0 0 0 2 0 0 0 0 2 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 1 0 0 0 1 1 1 1 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 0 1 1 1 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 1 2 0 2 0 7 78731368 C A A|stop_gained|HIGH|TRAV23DV6|ENSPANG00000020779|transcript|ENSPANT00000008161.1|protein_coding|2/2|c.192C>A|p.Tyr64*|192/3439|192/387|64/128|| 1 0 1 1 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 1 0 0 7 78869166 A T T|stop_gained|HIGH|ENSPANG00000026145|ENSPANG00000026145|transcript|ENSPANT00000002208.1|protein_coding|2/2|c.232A>T|p.Arg78*|232/411|232/411|78/136||,T|upstream_gene_variant|MODIFIER|TRAV36DV7|ENSPANG00000026146|transcript|ENSPANT00000002209.1|protein_coding||c.-4363A>T|||||4363|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 1 0 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 78909273 T C C|stop_lost&splice_region_variant|HIGH|TRAV38-1|ENSPANG00000026148|transcript|ENSPANT00000002210.1|protein_coding|2/2|c.361T>C|p.Ter121Argext*?|800/802|361/363|121/120|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 7 79200565 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000020823|ENSPANG00000020823|transcript|ENSPANT00000024696.1|protein_coding|1/1|c.128-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 2 NA 2 2 0 0 0 0 NA 0 0 0 2 0 1 0 NA 0 0 0 0 2 NA 2 NA 0 1 NA NA NA 0 0 2 1 NA 1 0 0 0 0 0 0 0 0 1 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 2 0 2 0 NA 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 1 1 7 79644860 C A A|splice_donor_variant&intron_variant|HIGH|C14orf93|ENSPANG00000011161|transcript|ENSPANT00000015226.1|protein_coding|1/6|c.-134+1G>T|||||| 1 2 1 1 2 2 1 2 2 1 1 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 2 1 2 1 1 2 2 2 2 2 2 2 0 2 2 0 2 1 2 2 1 1 2 2 2 2 1 2 2 2 1 2 1 0 2 0 1 2 2 2 2 1 2 2 1 2 2 2 2 1 0 2 2 1 1 2 2 2 2 2 2 1 2 0 7 79932378 C T T|stop_gained|HIGH|RNF212B|ENSPANG00000026177|transcript|ENSPANT00000007239.1|protein_coding|14/14|c.856C>T|p.Gln286*|856/900|856/900|286/299||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|HOMEZ|ENSPANG00000004893|transcript|ENSPANT00000007240.1|protein_coding||c.*2735G>A|||||2735| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 80132153 A G G|start_lost|HIGH|NGDN|ENSPANG00000026138|transcript|ENSPANT00000006760.2|protein_coding|2/10|c.1A>G|p.Met1?|594/1466|1/873|1/290||,G|missense_variant|MODERATE|NGDN|ENSPANG00000026138|transcript|ENSPANT00000006762.1|protein_coding|3/11|c.76A>G|p.Met26Val|76/948|76/948|26/315|| 1 0 1 1 0 0 1 0 0 1 1 0 0 0 0 0 0 2 0 1 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 7 80535795 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025059|ENSPANG00000025059|transcript|ENSPANT00000006673.1|protein_coding|11/12|c.667-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 80535796 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025059|ENSPANG00000025059|transcript|ENSPANT00000006673.1|protein_coding|11/12|c.667-2C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 2 2 2 2 2 2 2 2 2 2 2 0 2 0 1 1 0 2 1 1 1 1 0 1 2 0 2 0 2 0 1 1 0 1 2 1 0 1 1 1 1 0 0 1 1 1 1 1 0 0 0 2 1 0 1 1 0 1 0 0 1 0 0 1 0 1 1 1 1 0 0 0 0 0 2 0 0 1 0 2 0 0 0 1 0 0 0 1 0 1 2 1 1 2 1 0 0 0 0 0 7 80550689 G A A|stop_gained|HIGH|ENSPANG00000025059|ENSPANG00000025059|transcript|ENSPANT00000006673.1|protein_coding|3/13|c.208C>T|p.Gln70*|208/828|208/828|70/275||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 7 80733688 C T T|stop_gained&splice_region_variant|HIGH|ENSPANG00000005895|ENSPANG00000005895|transcript|ENSPANT00000022489.1|protein_coding|7/10|c.676C>T|p.Arg226*|676/849|676/849|226/282|| 0 1 1 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 1 0 2 0 0 1 2 0 0 2 0 0 1 0 0 1 NA 0 0 0 0 0 0 0 1 0 0 1 0 1 0 2 0 0 0 0 1 NA 2 1 0 0 0 0 0 1 1 2 0 1 1 0 0 2 0 2 0 0 1 0 0 NA 0 0 0 0 0 0 1 1 1 1 1 1 0 1 1 7 81047578 G T T|stop_gained|HIGH|ADCY4|ENSPANG00000021097|transcript|ENSPANT00000024483.1|protein_coding|18/25|c.2175C>A|p.Cys725*|2205/3457|2175/3234|725/1077|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 7 81217753 C T T|stop_gained|HIGH|CMA1|ENSPANG00000020366|transcript|ENSPANT00000007288.1|protein_coding|4/5|c.446G>A|p.Trp149*|766/1229|446/744|149/247||,T|intron_variant|MODIFIER|ENSPANG00000025556|ENSPANG00000025556|transcript|ENSPANT00000007287.1|protein_coding|1/1|c.142-1966C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 88114071 C T T|stop_gained|HIGH|ENSPANG00000021336|ENSPANG00000021336|transcript|ENSPANT00000015725.1|protein_coding|1/3|c.105G>A|p.Trp35*|1002/1404|105/507|35/168|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 91868193 C T T|stop_gained|HIGH|ENSPANG00000021246|ENSPANG00000021246|transcript|ENSPANT00000003763.1|protein_coding|3/4|c.478C>T|p.Gln160*|478/666|478/666|160/221|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 1 0 7 91868385 C T T|stop_gained|HIGH|ENSPANG00000021246|ENSPANG00000021246|transcript|ENSPANT00000003763.1|protein_coding|4/4|c.574C>T|p.Arg192*|574/666|574/666|192/221|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 93102907 C A A|splice_donor_variant&intron_variant|HIGH|SLC25A21|ENSPANG00000000933|transcript|ENSPANT00000015223.1|protein_coding|8/8|c.748+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 7 95117037 T A A|stop_gained|HIGH|ENSPANG00000001577|ENSPANG00000001577|transcript|ENSPANT00000014131.1|protein_coding|1/1|c.346A>T|p.Arg116*|346/498|346/498|116/165|| 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 7 95117191 G T T|stop_gained|HIGH|ENSPANG00000001577|ENSPANG00000001577|transcript|ENSPANT00000014131.1|protein_coding|1/1|c.192C>A|p.Cys64*|192/498|192/498|64/165|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 0 0 1 1 0 0 0 1 0 0 1 0 1 NA 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 7 101883462 A G G|splice_donor_variant&intron_variant|HIGH|MIS18BP1|ENSPANG00000014241|transcript|ENSPANT00000026988.1|protein_coding|1/13|c.-89+2T>C||||||,G|synonymous_variant|LOW|MIS18BP1|ENSPANG00000014241|transcript|ENSPANT00000026990.2|protein_coding|1/19|c.111T>C|p.Gly37Gly|111/3414|111/3414|37/1137|| 0 1 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 7 104364282 C G G|stop_gained|HIGH|ENSPANG00000016748|ENSPANG00000016748|transcript|ENSPANT00000026301.1|protein_coding|2/3|c.353C>G|p.Ser118*|353/573|353/573|118/190||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 111567676 T A A|splice_acceptor_variant&intron_variant|HIGH|DLGAP5|ENSPANG00000023585|transcript|ENSPANT00000007339.1|protein_coding|14/18|c.1880-2A>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 7 115919315 G T T|stop_gained|HIGH|L3HYPDH|ENSPANG00000018436|transcript|ENSPANT00000015705.1|protein_coding|1/5|c.62C>A|p.Ser21*|62/1068|62/1068|21/355||,T|upstream_gene_variant|MODIFIER|JKAMP|ENSPANG00000018437|transcript|ENSPANT00000015708.1|protein_coding||c.-336G>T|||||336| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 117146010 C A A|splice_acceptor_variant&intron_variant|HIGH|SIX4|ENSPANG00000020970|transcript|ENSPANT00000016851.1|protein_coding|1/3|c.4-1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 119310252 C G G|splice_donor_variant&intron_variant|HIGH|KCNH5|ENSPANG00000019995|transcript|ENSPANT00000010750.2|protein_coding|8/14|c.1378+1G>C||||||,G|intron_variant|MODIFIER|KCNH5|ENSPANG00000019995|transcript|ENSPANT00000025622.1|protein_coding|7/10|c.1369+15369G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 1 0 0 1 1 0 0 0 2 0 0 0 0 0 2 0 0 0 1 0 1 1 1 1 1 1 1 1 0 1 0 0 0 2 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 1 0 0 0 0 0 0 0 7 124021776 A C C|stop_lost&splice_region_variant|HIGH|RAD51B|ENSPANG00000017192|transcript|ENSPANT00000015737.1|protein_coding|6/6|c.863A>C|p.Ter288Serext*?|863/864|863/864|288/287|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 7 129084109 T A A|splice_acceptor_variant&intron_variant|HIGH|ZFYVE1|ENSPANG00000009729|transcript|ENSPANT00000025828.1|protein_coding|1/12|c.-433-2A>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|ZFYVE1|ENSPANG00000009729|transcript|ENSPANT00000006658.2|protein_coding|1/11|c.-433-2A>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 NA 0 0 0 0 1 1 NA 0 0 NA 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 NA NA 0 0 0 1 0 NA 7 129616758 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000015146|ENSPANG00000015146|transcript|ENSPANT00000029087.1|protein_coding|2/2|c.787-1G>A||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000026271|ENSPANG00000026271|transcript|ENSPANT00000008109.1|protein_coding||c.-1352G>A|||||1352|WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 7 146392000 A T T|stop_gained|HIGH|NRDE2|ENSPANG00000010337|transcript|ENSPANT00000021732.1|protein_coding|10/14|c.1974T>A|p.Tyr658*|2142/3764|1974/3495|658/1164||,T|stop_gained|HIGH|NRDE2|ENSPANG00000010337|transcript|ENSPANT00000019601.2|protein_coding|11/15|c.1923T>A|p.Tyr641*|2091/3713|1923/3444|641/1147|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 147174251 C T T|stop_gained|HIGH|RPS6KA5|ENSPANG00000016395|transcript|ENSPANT00000028922.1|protein_coding|1/17|c.240G>A|p.Trp80*|240/4948|240/2691|80/896|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 7 148785800 T C C|splice_acceptor_variant&intron_variant|HIGH|RIN3|ENSPANG00000011339|transcript|ENSPANT00000011691.1|protein_coding|8/16|c.855-1T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 2 1 1 2 2 2 2 1 2 2 2 1 0 2 1 1 1 1 1 1 0 2 2 2 1 2 2 2 1 2 1 2 2 2 1 2 1 1 1 2 1 1 1 2 1 1 1 1 2 2 2 0 1 1 2 0 1 0 1 1 2 2 1 1 2 2 1 2 2 2 2 0 2 1 1 1 1 2 2 1 1 2 1 2 2 1 2 2 2 1 2 0 2 1 2 2 2 1 2 2 7 149354475 T C C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000009609|ENSPANG00000009609|transcript|ENSPANT00000011370.1|protein_coding|1/4|c.121-1A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|UBR7|ENSPANG00000020773|transcript|ENSPANT00000021818.1|protein_coding|10/10|c.1194+1551T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 1 1 1 0 2 NA 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 0 0 7 149354512 G A A|stop_gained|HIGH|ENSPANG00000009609|ENSPANG00000009609|transcript|ENSPANT00000011370.1|protein_coding|1/5|c.85C>T|p.Arg29*|85/507|85/507|29/168||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|UBR7|ENSPANG00000020773|transcript|ENSPANT00000021818.1|protein_coding|10/10|c.1194+1588G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 149748374 C T T|stop_gained&splice_region_variant|HIGH|UNC79|ENSPANG00000009276|transcript|ENSPANT00000005123.1|protein_coding|27/51|c.3757C>T|p.Arg1253*|3757/7797|3757/7797|1253/2598||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 1 0 0 0 1 0 0 0 1 0 1 0 1 0 0 2 0 0 0 2 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 2 1 1 0 0 1 0 0 2 0 0 0 0 0 0 0 0 1 0 1 7 150248715 C T T|stop_gained|HIGH|ENSPANG00000024734|ENSPANG00000024734|transcript|ENSPANT00000003929.1|protein_coding|2/11|c.196C>T|p.Gln66*|196/2401|196/669|66/222||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 7 150264454 G C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000024734|ENSPANG00000024734|transcript|ENSPANT00000003929.1|protein_coding|6/10|c.363-1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 7 150412802 T G G|splice_donor_variant&intron_variant|HIGH|PPP4R4|ENSPANG00000024736|transcript|ENSPANT00000003932.1|protein_coding|21/24|c.2284+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 150784803 C T T|stop_gained|HIGH|ENSPANG00000026053|ENSPANG00000026053|transcript|ENSPANT00000023763.1|protein_coding|2/5|c.385C>T|p.Gln129*|660/2390|385/1185|129/394|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 1 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 1 1 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 7 150788698 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000026053|ENSPANG00000026053|transcript|ENSPANT00000023763.1|protein_coding|3/4|c.855-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 152403647 G A A|stop_gained|HIGH|BDKRB2|ENSPANG00000006822|transcript|ENSPANT00000025385.1|protein_coding|3/3|c.1157G>A|p.Trp386*|1354/1373|1157/1176|386/391|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 1 0 0 0 1 2 0 0 0 0 0 0 0 1 0 1 0 1 0 0 1 1 0 1 0 0 0 1 0 0 1 0 0 0 1 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 7 152714563 T G G|splice_donor_variant&intron_variant|HIGH|PAPOLA|ENSPANG00000025582|transcript|ENSPANT00000026142.1|protein_coding|14/21|c.1289+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 153028348 G A A|splice_donor_variant&intron_variant|HIGH|VRK1|ENSPANG00000026052|transcript|ENSPANT00000021815.1|protein_coding|9/12|c.830+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 7 155843378 C T T|stop_gained|HIGH|HHIPL1|ENSPANG00000013434|transcript|ENSPANT00000008421.1|protein_coding|9/9|c.2374C>T|p.Gln792*|2374/2439|2374/2439|792/812|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 7 159259047 C T T|splice_donor_variant&intron_variant|HIGH|CDC42BPB|ENSPANG00000025197|transcript|ENSPANT00000026624.1|protein_coding|1/37|c.4+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|CDC42BPB|ENSPANG00000025197|transcript|ENSPANT00000018915.2|protein_coding|1/35|c.4+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 2 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 1 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 7 160303319 T C C|splice_donor_variant&intron_variant|HIGH|ASPG|ENSPANG00000000882|transcript|ENSPANT00000019084.1|protein_coding|8/16|c.918+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 2 0 1 0 2 1 0 0 0 0 0 1 0 2 0 0 0 0 1 1 1 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 1 1 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 1 0 0 1 1 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 1 0 0 0 0 7 160311804 G A A|splice_acceptor_variant&intron_variant|HIGH|ASPG|ENSPANG00000000882|transcript|ENSPANT00000019084.1|protein_coding|16/16|c.1867-1G>A||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000026950|ENSPANG00000026950|transcript|ENSPANT00000010934.1|miRNA||n.-4880G>A|||||4880| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 7 161180058 G A A|splice_acceptor_variant&intron_variant|HIGH|C14orf79|ENSPANG00000021762|transcript|ENSPANT00000005122.1|protein_coding|2/8|c.570-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 7 161181182 G T T|splice_acceptor_variant&intron_variant|HIGH|C14orf79|ENSPANG00000021762|transcript|ENSPANT00000005122.1|protein_coding|4/8|c.635-1G>T|||||| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 1 2 2 2 2 1 1 1 1 1 2 2 2 1 1 1 2 1 2 1 2 2 2 1 1 2 1 2 2 2 2 2 2 1 1 2 1 1 0 2 1 1 0 1 2 0 2 1 1 2 2 2 2 2 2 1 2 2 1 2 2 2 1 2 1 2 0 2 2 2 2 2 2 2 1 1 2 0 7 161181224 G A A|splice_donor_variant&intron_variant|HIGH|C14orf79|ENSPANG00000021762|transcript|ENSPANT00000005122.1|protein_coding|5/8|c.675+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 1 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 1 1 0 1 1 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 7 162071162 G C C|stop_gained|HIGH|ENSPANG00000020769|ENSPANG00000020769|transcript|ENSPANT00000008799.1|protein_coding|2/3|c.195C>G|p.Tyr65*|195/420|195/420|65/139||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 6563354 A G G|start_lost|HIGH|ENSPANG00000006768|ENSPANG00000006768|transcript|ENSPANT00000025293.1|protein_coding|1/4|c.2T>C|p.Met1?|2/837|2/837|1/278||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 8 6691881 G A A|stop_gained|HIGH|ENSPANG00000009088|ENSPANG00000009088|transcript|ENSPANT00000025491.1|protein_coding|2/2|c.202C>T|p.Arg68*|202/285|202/285|68/94|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 6987838 C T T|stop_gained|HIGH|ENSPANG00000011569|ENSPANG00000011569|transcript|ENSPANT00000007269.1|protein_coding|1/4|c.415C>T|p.Arg139*|415/891|415/891|139/296||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 6988312 C T T|stop_gained|HIGH|ENSPANG00000011569|ENSPANG00000011569|transcript|ENSPANT00000007269.1|protein_coding|3/4|c.829C>T|p.Arg277*|829/891|829/891|277/296||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 2 1 0 0 0 0 1 0 0 1 1 0 0 0 0 0 1 0 0 1 0 1 0 0 1 1 0 1 0 0 0 0 0 0 0 0 1 0 1 1 0 1 0 1 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 8 8388081 A G G|stop_lost&splice_region_variant|HIGH|PRSS55|ENSPANG00000000691|transcript|ENSPANT00000022090.1|protein_coding|5/5|c.1063T>C|p.Ter355Argext*?|1063/1065|1063/1065|355/354|| 1 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 0 1 0 1 0 0 0 0 1 1 0 0 0 0 1 8 8425160 C T T|stop_gained|HIGH|ENSPANG00000024538|ENSPANG00000024538|transcript|ENSPANT00000028832.1|protein_coding|4/4|c.568C>T|p.Gln190*|568/723|568/723|190/240|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 16303000 C T T|stop_gained|HIGH|NAT2|ENSPANG00000018169|transcript|ENSPANT00000005775.1|protein_coding|2/2|c.427C>T|p.Gln143*|559/2049|427/873|143/290|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 20663429 C T T|stop_gained|HIGH|PEBP4|ENSPANG00000022788|transcript|ENSPANT00000001508.1|protein_coding|7/7|c.665G>A|p.Trp222*|854/861|665/672|222/223|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 8 20966781 C T T|stop_gained|HIGH|RHOBTB2|ENSPANG00000020434|transcript|ENSPANT00000017511.1|protein_coding|9/10|c.1885C>T|p.Arg629*|2481/2654|1885/2058|629/685|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 8 20973810 G C C|stop_gained|HIGH|TNFRSF10B|ENSPANG00000009912|transcript|ENSPANT00000008204.2|protein_coding|9/9|c.1337C>G|p.Ser446*|1822/1829|1337/1344|446/447||,C|stop_gained|HIGH|TNFRSF10B|ENSPANG00000009912|transcript|ENSPANT00000018887.1|protein_coding|10/10|c.1250C>G|p.Ser417*|1735/1742|1250/1257|417/418|| 2 0 1 1 0 0 2 1 1 1 0 1 2 2 2 1 2 2 0 2 2 2 0 1 0 0 2 1 2 0 1 2 1 1 1 2 2 2 2 2 2 1 1 2 2 1 1 1 1 2 1 1 1 1 1 2 2 2 1 1 0 0 1 1 0 2 2 1 0 2 0 2 1 0 1 2 0 2 0 2 0 1 1 1 2 1 1 1 2 2 0 2 1 1 1 1 1 1 0 1 8 21107626 A G G|splice_acceptor_variant&intron_variant|HIGH|TNFRSF10A|ENSPANG00000005889|transcript|ENSPANT00000011064.1|protein_coding|4/7|c.523-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 8 22298420 A G G|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000005177|ENSPANG00000005177|transcript|ENSPANT00000008619.1|protein_coding|2/2|c.904-1T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 1 0 1 1 0 1 0 1 1 1 1 1 0 1 1 1 0 2 0 0 1 1 0 0 0 0 1 1 1 NA 0 0 0 0 2 1 1 0 0 2 1 1 1 0 2 1 1 0 1 1 1 0 0 0 0 1 2 0 1 0 0 0 1 1 0 1 1 1 0 1 0 0 2 1 0 2 0 0 0 0 0 1 1 0 2 0 1 2 1 0 1 0 1 0 1 1 0 1 0 2 8 22298457 T A A|stop_gained|HIGH|ENSPANG00000005177|ENSPANG00000005177|transcript|ENSPANT00000008619.1|protein_coding|2/3|c.868A>T|p.Lys290*|868/939|868/939|290/312||WARNING_TRANSCRIPT_NO_START_CODON 1 0 1 0 0 0 2 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 1 2 0 0 1 0 0 0 1 0 1 0 1 1 1 0 0 0 1 1 1 0 1 1 2 0 1 0 1 1 0 0 0 0 1 0 0 1 0 1 0 2 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 8 31591676 C T T|stop_gained|HIGH|MAK16|ENSPANG00000010420|transcript|ENSPANT00000028831.1|protein_coding|5/10|c.316C>T|p.Arg106*|316/903|316/903|106/300|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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G|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ADRB3|ENSPANG00000000535|transcript|ENSPANT00000026770.1|protein_coding|1/2|c.1128+1A>C|||||| 0 1 0 1 1 1 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 8 37334203 G A A|splice_acceptor_variant&intron_variant|HIGH|ADAM32|ENSPANG00000009844|transcript|ENSPANT00000022042.1|protein_coding|2/18|c.77-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 2 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 1 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 2 1 2 0 1 0 2 0 0 0 0 0 0 0 1 0 1 1 0 2 8 37675265 T G G|stop_lost&splice_region_variant|HIGH|ENSPANG00000012484|ENSPANG00000012484|transcript|ENSPANT00000019237.1|protein_coding|16/16|c.1679A>C|p.Ter560Serext*?|1679/1680|1679/1680|560/559|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 39869974 G A A|stop_gained|HIGH|GPAT4|ENSPANG00000020590|transcript|ENSPANT00000016126.1|protein_coding|8/13|c.867G>A|p.Trp289*|1814/4009|867/1371|289/456|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 39902231 G A A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|NKX6-3|ENSPANG00000014739|transcript|ENSPANT00000016131.1|protein_coding|1/2|c.57+1C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 40759507 C T T|start_lost|HIGH|SLC20A2|ENSPANG00000015058|transcript|ENSPANT00000007872.1|protein_coding|1/10|c.3G>A|p.Met1?|268/2224|3/1959|1/652|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 49500350 G A A|stop_gained|HIGH|ENSPANG00000009427|ENSPANG00000009427|transcript|ENSPANT00000011629.1|protein_coding|1/1|c.62G>A|p.Trp21*|62/951|62/951|21/316|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 63216073 C T T|splice_donor_variant&intron_variant|HIGH|ARFGEF1|ENSPANG00000009494|transcript|ENSPANT00000011559.1|protein_coding|13/39|c.1899+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 65844781 G A A|stop_gained|HIGH|ENSPANG00000005490|ENSPANG00000005490|transcript|ENSPANT00000009349.1|protein_coding|3/6|c.504G>A|p.Trp168*|504/909|504/909|168/302|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 8 65844837 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000005490|ENSPANG00000005490|transcript|ENSPANT00000009349.1|protein_coding|3/5|c.559+1C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 8 80896393 A G G|splice_acceptor_variant&intron_variant|HIGH|LRRCC1|ENSPANG00000005748|transcript|ENSPANT00000018351.2|protein_coding|21/23|c.2769-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|LRRCC1|ENSPANG00000005748|transcript|ENSPANT00000021714.1|protein_coding|17/18|c.2834+1288A>G|||||| 0 1 0 1 1 2 0 0 1 1 1 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 1 0 0 1 0 0 0 1 1 1 1 0 1 1 0 1 1 0 0 0 0 1 0 0 2 0 0 0 0 0 1 1 1 0 0 0 1 0 1 1 1 0 1 0 1 2 0 0 0 0 0 0 0 1 0 2 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 8 82256030 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008745|ENSPANG00000008745|transcript|ENSPANT00000016800.1|protein_coding|3/8|c.227+1A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ENSPANG00000007453|ENSPANG00000007453|transcript|ENSPANT00000022916.1|miRNA||n.-2622A>G|||||2622|,C|intron_variant|MODIFIER|CNGB3|ENSPANG00000021220|transcript|ENSPANT00000007941.1|protein_coding|7/21|c.861+5324A>G|||||| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 1 2 1 2 1 2 2 2 1 2 2 2 1 2 2 2 2 2 2 2 1 2 2 2 2 1 2 1 2 2 2 2 2 1 2 2 2 1 2 1 2 2 2 1 2 2 2 2 1 2 2 1 2 1 1 2 2 2 2 1 2 2 2 0 2 1 2 1 2 2 2 2 2 2 2 2 2 2 1 8 86876332 G A A|stop_gained&splice_region_variant|HIGH|SLC26A7|ENSPANG00000010066|transcript|ENSPANT00000012620.1|protein_coding|11/19|c.1313G>A|p.Trp438*|1568/2226|1313/1971|438/656||,A|stop_gained&splice_region_variant|HIGH|SLC26A7|ENSPANG00000010066|transcript|ENSPANT00000002739.2|protein_coding|11/21|c.1313G>A|p.Trp438*|1568/2217|1313/1962|438/653|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 97749151 G A A|stop_gained|HIGH|ENSPANG00000016761|ENSPANG00000016761|transcript|ENSPANT00000011628.1|protein_coding|1/1|c.52C>T|p.Arg18*|52/420|52/420|18/139||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 1 0 1 0 1 1 0 1 1 1 0 2 1 0 1 0 0 2 0 0 2 1 0 NA 0 1 0 0 0 1 NA 0 1 0 0 0 0 0 1 1 2 0 1 0 0 2 0 0 0 0 2 0 0 0 1 0 0 0 1 NA 0 0 1 0 1 1 NA 0 0 2 1 NA 0 1 0 0 NA 0 0 1 1 0 0 1 0 0 0 0 2 0 NA 0 0 2 NA 0 0 0 8 97749157 C A A|stop_gained|HIGH|ENSPANG00000016761|ENSPANG00000016761|transcript|ENSPANT00000011628.1|protein_coding|1/1|c.46G>T|p.Glu16*|46/420|46/420|16/139||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 1 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 NA 0 0 0 8 98116415 C A A|splice_acceptor_variant&intron_variant|HIGH|AZIN1|ENSPANG00000002432|transcript|ENSPANT00000021577.1|protein_coding|1/10|c.-95-1G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 102872925 G A A|stop_gained|HIGH|DTD1|ENSPANG00000003724|transcript|ENSPANT00000000361.1|protein_coding|1/1|c.139C>T|p.Arg47*|139/630|139/630|47/209|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 103939142 A T T|stop_gained|HIGH|RPS8|ENSPANG00000018750|transcript|ENSPANT00000021494.1|protein_coding|2/3|c.370A>T|p.Lys124*|370/567|370/567|124/188|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 103939391 T A A|stop_lost&splice_region_variant|HIGH|RPS8|ENSPANG00000018750|transcript|ENSPANT00000021494.1|protein_coding|3/3|c.565T>A|p.Ter189Lysext*?|565/567|565/567|189/188|| 1 2 2 1 1 1 1 1 1 0 2 2 2 2 1 2 1 1 2 1 2 0 2 0 1 2 1 1 1 2 1 2 2 1 1 0 0 1 2 1 2 1 2 1 1 0 1 1 0 0 0 2 1 0 2 2 0 2 0 0 1 1 0 1 1 0 2 1 2 2 2 1 0 2 0 1 2 1 2 2 1 1 0 2 1 1 0 0 0 2 1 2 2 1 1 2 2 1 2 2 8 104420796 C T T|stop_gained|HIGH|PKHD1L1|ENSPANG00000007052|transcript|ENSPANT00000009436.1|protein_coding|25/78|c.2926C>T|p.Arg976*|3403/13245|2926/12768|976/4255|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 8 104424210 G A A|splice_donor_variant&intron_variant|HIGH|PKHD1L1|ENSPANG00000007052|transcript|ENSPANT00000009436.1|protein_coding|26/77|c.3123+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 104460304 G A A|stop_gained|HIGH|PKHD1L1|ENSPANG00000007052|transcript|ENSPANT00000009436.1|protein_coding|49/78|c.8309G>A|p.Trp2770*|8786/13245|8309/12768|2770/4255|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 104883160 G A A|stop_gained|HIGH|ENSPANG00000005409|ENSPANG00000005409|transcript|ENSPANT00000015156.1|protein_coding|1/2|c.106C>T|p.Gln36*|106/420|106/420|36/139||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 112154434 C T T|stop_gained|HIGH|ENSPANG00000015562|ENSPANG00000015562|transcript|ENSPANT00000006987.1|protein_coding|1/1|c.547C>T|p.Gln183*|547/753|547/753|183/250|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 8 112154451 G A A|stop_gained|HIGH|ENSPANG00000015562|ENSPANG00000015562|transcript|ENSPANT00000006987.1|protein_coding|1/1|c.564G>A|p.Trp188*|564/753|564/753|188/250|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 2 0 1 0 1 0 0 0 0 0 1 1 0 0 1 0 1 0 0 0 1 0 0 1 0 0 1 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 1 0 0 1 0 0 0 0 0 0 0 1 0 0 8 112154533 C T T|stop_gained|HIGH|ENSPANG00000015562|ENSPANG00000015562|transcript|ENSPANT00000006987.1|protein_coding|1/1|c.646C>T|p.Arg216*|646/753|646/753|216/250|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 119550283 T A A|start_lost|HIGH|ENSPANG00000006668|ENSPANG00000006668|transcript|ENSPANT00000013078.1|protein_coding|1/4|c.2T>A|p.Met1?|2/755|2/672|1/223||,A|upstream_gene_variant|MODIFIER|TATDN1|ENSPANG00000001330|transcript|ENSPANT00000009340.1|protein_coding||c.-10A>T|||||10| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 2 0 0 1 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 2 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 8 127787389 C T T|stop_gained|HIGH|TG|ENSPANG00000011411|transcript|ENSPANT00000001072.1|protein_coding|1/38|c.133C>T|p.Arg45*|408/7466|133/7191|45/2396|| 1 1 1 0 0 0 1 1 1 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 8 137331340 T C C|splice_acceptor_variant&intron_variant|HIGH|ADGRB1|ENSPANG00000015392|transcript|ENSPANT00000008704.1|protein_coding|8/32|c.1782-1T>C|||||| 0 0 1 1 0 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 8 137538129 C T T|stop_gained|HIGH|PSCA|ENSPANG00000005745|transcript|ENSPANT00000024596.1|protein_coding|3/4|c.184C>T|p.Gln62*|184/375|184/375|62/124||WARNING_TRANSCRIPT_NO_STOP_CODON NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 1 1 NA 0 0 1 NA 0 0 NA NA NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 NA 0 2 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA NA 0 NA 0 NA 0 1 0 1 1 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 8 137658017 A G G|start_lost|HIGH|LY6D|ENSPANG00000012599|transcript|ENSPANT00000003899.1|protein_coding|1/3|c.2T>C|p.Met1?|41/756|2/390|1/129|| 0 0 1 1 0 1 1 1 1 1 0 0 0 1 0 0 1 0 1 2 1 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 NA 0 NA 0 0 0 0 0 1 0 0 1 0 NA 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 NA 1 0 NA NA 0 0 1 0 0 0 0 1 0 0 0 0 0 1 NA 0 1 0 0 0 8 138097862 T A A|stop_gained|HIGH|ENSPANG00000024747|ENSPANG00000024747|transcript|ENSPANT00000020198.1|protein_coding|3/5|c.690T>A|p.Cys230*|690/1614|690/1614|230/537||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 138097866 C T T|stop_gained|HIGH|ENSPANG00000024747|ENSPANG00000024747|transcript|ENSPANT00000020198.1|protein_coding|3/5|c.694C>T|p.Arg232*|694/1614|694/1614|232/537||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 1 1 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 2 0 0 1 0 2 2 0 1 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 1 0 2 0 0 0 0 1 1 0 0 1 0 0 1 0 0 0 0 1 0 0 1 8 138143693 C T T|stop_gained|HIGH|ZNF696|ENSPANG00000015054|transcript|ENSPANT00000014297.1|protein_coding|3/3|c.559C>T|p.Arg187*|559/1176|559/1176|187/391|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 138568463 C T T|stop_gained|HIGH|MAPK15|ENSPANG00000000540|transcript|ENSPANT00000020149.1|protein_coding|9/14|c.913C>T|p.Gln305*|993/1715|913/1635|305/544|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 8 139299036 T G G|splice_acceptor_variant&intron_variant|HIGH|ZNF251|ENSPANG00000010537|transcript|ENSPANT00000023706.1|protein_coding|4/6|c.208-2A>C||||||,G|downstream_gene_variant|MODIFIER|ENSPANG00000008867|ENSPANG00000008867|transcript|ENSPANT00000013416.1|miRNA||n.*2191T>G|||||2191| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 8 139372761 C T T|stop_gained|HIGH|ZNF7|ENSPANG00000012142|transcript|ENSPANT00000009880.1|protein_coding|2/13|c.52C>T|p.Gln18*|52/2286|52/2286|18/761||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 8 139379435 G A A|splice_acceptor_variant&intron_variant|HIGH|ZNF7|ENSPANG00000012142|transcript|ENSPANT00000009880.1|protein_coding|4/12|c.320-2G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 8 139382171 C T T|splice_donor_variant&intron_variant|HIGH|ZNF7|ENSPANG00000012142|transcript|ENSPANT00000009880.1|protein_coding|8/12|c.648+2C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 1 1 0 1 1 1 1 1 0 1 0 0 0 1 1 0 0 0 1 1 0 0 1 0 1 0 1 1 0 0 1 2 0 1 1 0 1 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 2 0 1 0 2 1 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 1 0 1 1 2 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 8 139539783 A G G|stop_lost&splice_region_variant|HIGH|ENSPANG00000007648|ENSPANG00000007648|transcript|ENSPANT00000009884.1|protein_coding|5/5|c.2341T>C|p.Ter781Argext*?|2666/2668|2341/2343|781/780||,G|downstream_gene_variant|MODIFIER|ENSPANG00000007648|ENSPANG00000007648|transcript|ENSPANT00000025487.1|protein_coding||c.*4T>C|||||4|WARNING_TRANSCRIPT_NO_START_CODON 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 1 1 2 NA 1 2 2 2 2 0 2 2 2 2 2 2 1 2 0 2 2 2 2 2 2 2 2 1 2 2 2 2 2 1 2 2 2 2 2 2 2 2 1 2 1 2 2 2 2 2 2 2 2 1 2 2 8 139589502 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000007648|ENSPANG00000007648|transcript|ENSPANT00000009884.1|protein_coding|2/4|c.-44+1G>C||||||,G|downstream_gene_variant|MODIFIER|ENSPANG00000010536|ENSPANG00000010536|transcript|ENSPANT00000013923.1|protein_coding||c.*4766C>G|||||4766| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 8 139630205 G A A|stop_gained|HIGH|ENSPANG00000016083|ENSPANG00000016083|transcript|ENSPANT00000013938.1|protein_coding|1/2|c.62G>A|p.Trp21*|83/1857|62/1449|21/482|| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8 139630244 T G G|stop_gained|HIGH|ENSPANG00000016083|ENSPANG00000016083|transcript|ENSPANT00000013938.1|protein_coding|1/2|c.101T>G|p.Leu34*|122/1857|101/1449|34/482|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 9 15094920 G A A|stop_gained|HIGH|DCLRE1C|ENSPANG00000023291|transcript|ENSPANT00000021450.1|protein_coding|14/14|c.1615C>T|p.Gln539*|1615/2064|1615/2064|539/687|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 15737335 C T T|splice_donor_variant&intron_variant|HIGH|ITGA8|ENSPANG00000023187|transcript|ENSPANT00000021255.1|protein_coding|18/30|c.1819+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 1 1 0 1 0 0 1 2 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 2 0 0 1 0 0 1 0 0 1 0 1 0 0 2 0 2 1 0 0 0 2 9 18272499 C A A|splice_donor_variant&intron_variant|HIGH|NSUN6|ENSPANG00000023143|transcript|ENSPANT00000021237.1|protein_coding|1/10|c.75+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 20694565 T C C|splice_donor_variant&splice_region_variant&intron_variant|HIGH|C10orf113|ENSPANG00000023137|transcript|ENSPANT00000021141.1|protein_coding|1/2|c.69+2A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 1 0 0 2 0 1 0 2 1 1 1 0 0 0 0 0 1 0 1 0 1 1 0 2 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 2 1 1 1 1 2 0 0 1 2 1 0 1 0 0 0 0 0 0 1 2 1 0 1 0 0 0 2 0 2 0 1 1 2 1 2 1 2 1 0 0 0 1 0 0 1 1 2 0 0 0 1 1 0 2 0 0 1 0 9 22878087 A G G|start_lost|HIGH|ENSPANG00000023091|ENSPANG00000023091|transcript|ENSPANT00000021030.1|protein_coding|1/8|c.2T>C|p.Met1?|73/1287|2/873|1/290|| 0 0 0 0 0 0 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T|stop_gained|HIGH|ENSPANG00000009635|ENSPANG00000009635|transcript|ENSPANT00000010129.1|protein_coding|1/1|c.520C>T|p.Arg174*|520/792|520/792|174/263||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 9 28961659 G A A|splice_acceptor_variant&intron_variant|HIGH|SVIL|ENSPANG00000022931|transcript|ENSPANT00000020438.1|protein_coding|15/36|c.3116-2C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|splice_region_variant&intron_variant|LOW|SVIL|ENSPANG00000022931|transcript|ENSPANT00000020415.2|protein_coding|14/35|c.3158-8C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 9 30326755 G A 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0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 1 0 1 0 0 0 1 0 1 9 39700338 C A A|stop_gained|HIGH|ENSPANG00000000253|ENSPANG00000000253|transcript|ENSPANT00000015560.1|protein_coding|1/1|c.46G>T|p.Glu16*|46/885|46/885|16/294||,A|downstream_gene_variant|MODIFIER|ENSPANG00000027560|ENSPANG00000027560|transcript|ENSPANT00000029595.1|lincRNA||n.*3683G>T|||||3683| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 9 40200445 C T T|splice_donor_variant&intron_variant|HIGH|OGDHL|ENSPANG00000022654|transcript|ENSPANT00000019325.1|protein_coding|8/21|c.1170+2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 9 40537828 C T T|stop_gained|HIGH|ENSPANG00000022618|ENSPANG00000022618|transcript|ENSPANT00000019330.1|protein_coding|1/3|c.109C>T|p.Gln37*|143/866|109/522|37/173||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 41766114 G T T|stop_gained|HIGH|FRMPD2|ENSPANG00000022628|transcript|ENSPANT00000019227.2|protein_coding|27/29|c.3670G>T|p.Glu1224*|3670/6322|3670/4053|1224/1350||,T|stop_gained|HIGH|FRMPD2|ENSPANG00000022628|transcript|ENSPANT00000019313.1|protein_coding|27/29|c.3529G>T|p.Glu1177*|3529/3936|3529/3936|1177/1311||WARNING_TRANSCRIPT_NO_START_CODON 0 1 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 9 42245329 T G G|start_lost|HIGH|RBP3|ENSPANG00000022632|transcript|ENSPANT00000019223.1|protein_coding|1/4|c.2T>G|p.Met1?|2/3738|2/3738|1/1245||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 1 0 1 1 1 1 1 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 9 42817750 G A A|stop_gained|HIGH|ENSPANG00000022639|ENSPANG00000022639|transcript|ENSPANT00000019188.1|protein_coding|10/12|c.754C>T|p.Arg252*|841/4166|754/984|252/327|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 42913508 T A A|splice_donor_variant&intron_variant|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|4/8|c.334+2T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 NA 0 0 0 0 0 NA 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 NA 9 42914095 C T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|6/8|c.883-1C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 9 42914171 G T T|stop_gained|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|7/9|c.958G>T|p.Glu320*|958/1206|958/1206|320/401|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 9 42914242 C G G|splice_donor_variant&intron_variant|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|7/8|c.1028+1C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 9 42914393 C T T|stop_gained|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|8/9|c.1153C>T|p.Gln385*|1153/1206|1153/1206|385/401|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 9 42914405 C T T|splice_donor_variant&splice_region_variant&intron_variant|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|8/8|c.1164+1C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 42914441 C A A|stop_gained|HIGH|AHCY|ENSPANG00000022648|transcript|ENSPANT00000019220.1|protein_coding|9/9|c.1197C>A|p.Tyr399*|1197/1206|1197/1206|399/401|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 9 43097967 G A A|splice_acceptor_variant&intron_variant|HIGH|SNCG|ENSPANG00000022614|transcript|ENSPANT00000019191.1|protein_coding|2/4|c.164-2C>T||||||,A|upstream_gene_variant|MODIFIER|MMRN2|ENSPANG00000022590|transcript|ENSPANT00000019192.1|protein_coding||c.-2433G>A|||||2433| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 1 1 0 0 0 0 0 1 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 49732851 C T T|stop_gained|HIGH|DYDC2|ENSPANG00000022584|transcript|ENSPANT00000018871.1|protein_coding|3/3|c.440G>A|p.Trp147*|453/698|440/534|147/177|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 9 49732975 G A A|stop_gained|HIGH|DYDC2|ENSPANG00000022584|transcript|ENSPANT00000018871.1|protein_coding|3/3|c.316C>T|p.Gln106*|329/698|316/534|106/177|| 1 0 0 1 1 0 1 1 1 1 1 1 0 1 2 2 2 1 0 0 1 2 0 1 1 0 1 0 2 1 2 0 1 0 1 0 1 1 1 2 1 2 0 1 0 1 2 1 2 1 1 2 1 0 0 1 1 2 1 1 2 0 1 1 2 1 1 0 0 1 0 2 0 0 2 1 0 1 0 1 1 1 2 0 1 1 2 1 2 2 2 0 0 0 0 0 1 2 1 1 9 54487998 T C C|splice_donor_variant&intron_variant|HIGH|COMTD1|ENSPANG00000022475|transcript|ENSPANT00000018606.1|protein_coding|4/6|c.447+2T>C||||||,C|downstream_gene_variant|MODIFIER|VDAC2|ENSPANG00000022478|transcript|ENSPANT00000018608.1|protein_coding||c.*4299A>G|||||4299| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 56791361 C A A|stop_lost&splice_region_variant|HIGH|MCU|ENSPANG00000022327|transcript|ENSPANT00000002067.1|protein_coding|10/10|c.944G>T|p.Ter315Leuext*?|1794/1795|944/945|315/314||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 9 56791362 A T T|stop_lost&splice_region_variant|HIGH|MCU|ENSPANG00000022327|transcript|ENSPANT00000002067.1|protein_coding|10/10|c.943T>A|p.Ter315Argext*?|1793/1795|943/945|315/314||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 9 56970464 T C C|start_lost|HIGH|ENSPANG00000018140|ENSPANG00000018140|transcript|ENSPANT00000018001.1|protein_coding|1/1|c.2T>C|p.Met1?|38/538|2/498|1/165||,C|upstream_gene_variant|MODIFIER|ENSPANG00000008008|ENSPANG00000008008|transcript|ENSPANT00000016777.1|miRNA||n.-906A>G|||||906|,C|intron_variant|MODIFIER|MCU|ENSPANG00000022327|transcript|ENSPANT00000002067.1|protein_coding|3/9|c.39+4776A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 1 0 0 1 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 9 66088395 G T T|stop_gained|HIGH|ENSPANG00000008839|ENSPANG00000008839|transcript|ENSPANT00000027324.1|protein_coding|1/1|c.802G>T|p.Glu268*|802/882|802/882|268/293||,T|downstream_gene_variant|MODIFIER|U6|ENSPANG00000003513|transcript|ENSPANT00000028338.1|snRNA||n.*2494G>T|||||2494| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 77394664 C T T|stop_gained|HIGH|ENSPANG00000002061|ENSPANG00000002061|transcript|ENSPANT00000018195.1|protein_coding|1/1|c.67C>T|p.Arg23*|67/360|67/360|23/119||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 1 2 0 0 1 0 2 0 0 1 2 2 1 2 2 1 1 1 2 1 2 1 1 2 1 1 2 2 2 2 1 0 1 0 1 1 2 2 2 1 2 0 2 2 1 1 1 2 2 1 1 1 2 2 1 2 1 0 2 2 0 1 1 2 2 1 2 0 2 1 0 2 0 1 2 2 1 2 0 2 0 0 1 1 0 1 2 2 0 1 1 1 2 2 2 0 1 0 9 80994614 A G G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|STAMBPL1|ENSPANG00000021744|transcript|ENSPANT00000005034.1|protein_coding|6/10|c.816+2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 86759561 A G G|start_lost|HIGH|ENSPANG00000021512|ENSPANG00000021512|transcript|ENSPANT00000010737.1|protein_coding|1/5|c.1A>G|p.Met1?|1/831|1/831|1/276|| 1 2 0 0 0 2 1 2 0 2 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 NA 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 86809003 G A A|stop_gained|HIGH|ENSPANG00000003359|ENSPANG00000003359|transcript|ENSPANT00000027093.1|protein_coding|1/1|c.16C>T|p.Arg6*|16/744|16/744|6/247|| 0 0 NA NA NA 0 0 0 NA 0 0 0 2 1 1 2 0 0 1 0 1 0 0 0 0 NA 2 0 NA NA 1 0 2 0 0 NA 0 NA 2 2 0 1 0 NA 1 0 0 0 0 0 0 2 0 0 2 0 0 0 2 0 0 NA 0 1 0 0 0 0 0 1 NA 0 2 NA 1 0 NA 1 0 2 1 NA NA 0 0 0 0 0 0 0 0 2 NA NA 0 0 2 0 NA 2 9 87768715 G A A|stop_gained|HIGH|ENSPANG00000021446|ENSPANG00000021446|transcript|ENSPANT00000011572.1|protein_coding|26/39|c.2421G>A|p.Trp807*|2421/4044|2421/4044|807/1347||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 9 94696775 C T T|stop_gained|HIGH|AS3MT|ENSPANG00000020981|transcript|ENSPANT00000023466.1|protein_coding|11/12|c.943C>T|p.Arg315*|943/1131|943/1131|315/376||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 9 94789645 G A A|splice_donor_variant&intron_variant|HIGH|CNNM2|ENSPANG00000020976|transcript|ENSPANT00000012972.1|protein_coding|8/14|c.1679+2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 2 0 0 2 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 9 95443889 T G 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T|splice_acceptor_variant&intron_variant|HIGH|ADD3|ENSPANG00000020803|transcript|ENSPANT00000023349.1|protein_coding|14/17|c.1683-1C>T|||||| 1 1 0 0 0 1 1 1 1 1 1 0 0 0 0 0 0 0 1 2 0 0 0 0 0 1 1 1 0 0 2 0 1 0 1 0 0 1 0 0 1 1 0 0 1 2 1 0 1 0 0 1 0 0 1 1 1 1 1 0 2 0 0 2 2 1 1 2 0 0 0 1 1 1 0 0 0 0 0 0 1 2 0 1 0 0 1 1 1 0 0 1 0 0 0 0 1 1 0 1 9 101802212 G A A|splice_donor_variant&intron_variant|HIGH|ADD3|ENSPANG00000020803|transcript|ENSPANT00000023349.1|protein_coding|15/17|c.1732+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 9 103963527 G A A|stop_gained|HIGH|ENSPANG00000020794|ENSPANG00000020794|transcript|ENSPANT00000012227.1|protein_coding|24/28|c.2884C>T|p.Gln962*|2884/3312|2884/3312|962/1103|| 1 1 2 1 2 1 0 1 0 1 1 0 2 0 1 2 1 1 1 0 1 0 2 0 0 2 1 1 0 0 0 0 0 1 0 0 1 0 2 2 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 1 0 1 1 2 0 1 0 1 1 0 1 1 0 0 0 1 0 1 0 1 0 1 1 0 9 104005090 G T T|stop_gained|HIGH|ENSPANG00000020794|ENSPANG00000020794|transcript|ENSPANT00000012227.1|protein_coding|1/28|c.291C>A|p.Cys97*|291/3312|291/3312|97/1103|| 1 1 0 0 0 1 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 9 105420869 T G G|stop_gained&splice_region_variant|HIGH|PLEKHS1|ENSPANG00000020746|transcript|ENSPANT00000028206.1|protein_coding|14/16|c.1373T>G|p.Leu458*|1373/1404|1373/1404|458/467||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 9 105421382 G A A|splice_acceptor_variant&intron_variant|HIGH|PLEKHS1|ENSPANG00000020746|transcript|ENSPANT00000028206.1|protein_coding|14/15|c.1374-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 2 2 1 1 1 2 1 2 1 2 1 2 2 1 2 2 2 1 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 1 2 2 2 2 1 0 2 2 2 0 1 2 1 2 2 2 2 1 2 2 1 2 1 2 0 1 0 1 1 2 2 2 2 1 2 2 2 2 1 2 1 1 2 2 1 2 0 2 2 2 2 2 1 1 2 1 2 1 2 2 2 2 2 2 9 105934592 T C C|splice_acceptor_variant&intron_variant|HIGH|AFAP1L2|ENSPANG00000020708|transcript|ENSPANT00000023458.1|protein_coding|16/19|c.1927-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 113534836 C A A|stop_gained&splice_region_variant|HIGH|NSMCE4A|ENSPANG00000020473|transcript|ENSPANT00000007983.1|protein_coding|6/12|c.784G>T|p.Glu262*|784/1152|784/1152|262/383|| 0 0 1 1 1 0 1 0 1 0 1 1 0 0 NA 1 0 0 2 1 1 0 0 0 0 1 1 0 1 0 1 0 1 0 1 1 0 0 2 2 1 1 1 0 1 1 1 1 0 2 2 1 1 1 1 0 1 0 2 0 0 2 2 1 1 1 1 NA NA 0 1 2 1 1 1 0 2 0 0 1 0 1 2 0 0 1 0 2 1 0 2 0 1 1 1 2 2 0 1 1 9 114164554 A G G|splice_acceptor_variant&intron_variant|HIGH|DMBT1|ENSPANG00000020483|transcript|ENSPANT00000023821.1|protein_coding|4/30|c.485-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 9 114251641 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020484|ENSPANG00000020484|transcript|ENSPANT00000012221.1|protein_coding|1/4|c.33+2T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 9 115529025 G A A|stop_gained|HIGH|RAB1B|ENSPANG00000012529|transcript|ENSPANT00000012712.1|protein_coding|1/1|c.306G>A|p.Trp102*|306/606|306/606|102/201|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 1 0 0 0 1 0 0 0 1 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 9 115529162 T A A|stop_gained|HIGH|RAB1B|ENSPANG00000012529|transcript|ENSPANT00000012712.1|protein_coding|1/1|c.443T>A|p.Leu148*|443/606|443/606|148/201|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 9 124316476 G A A|stop_gained|HIGH|CFAP46|ENSPANG00000020143|transcript|ENSPANT00000003539.1|protein_coding|64/66|c.7654C>T|p.Arg2552*|7751/8083|7654/7986|2552/2661||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 124809184 C T T|splice_donor_variant&intron_variant|HIGH|CALY|ENSPANG00000020076|transcript|ENSPANT00000006065.1|protein_coding|5/5|c.*29+1G>A||||||,T|intron_variant|MODIFIER|ZNF511-PRAP1|ENSPANG00000020113|transcript|ENSPANT00000012962.1|protein_coding|4/7|c.485+12675C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 9 124968795 G T T|stop_gained|HIGH|ENSPANG00000020064|ENSPANG00000020064|transcript|ENSPANT00000021941.1|protein_coding|6/6|c.1465G>T|p.Gly489*|1465/1638|1465/1638|489/545||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 0 0 0 9 125184439 A T T|stop_gained|HIGH|ENSPANG00000020072|ENSPANG00000020072|transcript|ENSPANT00000021944.1|protein_coding|4/4|c.1080T>A|p.Tyr360*|1080/1284|1080/1284|360/427||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 0 0 1 1 1 1 1 1 2 1 2 1 1 0 2 NA 0 0 0 0 0 0 NA 0 0 0 NA 1 0 0 0 0 0 0 1 1 1 1 1 0 0 1 0 1 NA 0 0 NA 0 0 0 0 2 0 1 1 0 2 NA 0 0 1 0 0 0 0 0 NA 0 0 0 0 2 0 1 NA 1 0 0 1 1 1 1 0 1 0 1 0 1 1 0 2 0 0 0 0 0 9 125184456 G A A|stop_gained|HIGH|ENSPANG00000020072|ENSPANG00000020072|transcript|ENSPANT00000021944.1|protein_coding|4/4|c.1063C>T|p.Arg355*|1063/1284|1063/1284|355/427||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 0 0 1 1 1 1 1 1 2 1 2 1 1 0 2 NA 0 0 0 0 0 0 NA 0 0 0 NA 1 0 0 0 0 0 0 1 1 1 1 1 0 0 1 0 1 NA 0 0 0 0 0 0 0 2 0 1 1 0 2 NA 0 0 1 0 0 0 0 0 NA 0 0 0 0 2 0 1 NA 1 0 0 1 1 1 1 0 1 0 1 0 1 1 0 2 0 0 0 0 0 9 125184736 G A A|stop_gained|HIGH|ENSPANG00000020072|ENSPANG00000020072|transcript|ENSPANT00000021944.1|protein_coding|3/4|c.784C>T|p.Arg262*|784/1284|784/1284|262/427||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 NA 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 0 1 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 549176 C T T|splice_acceptor_variant&intron_variant|HIGH|ZGPAT|ENSPANG00000005904|transcript|ENSPANT00000006663.1|protein_coding|3/5|c.901-1G>A||||||,T|upstream_gene_variant|MODIFIER|SLC2A4RG|ENSPANG00000026192|transcript|ENSPANT00000019777.1|protein_coding||c.-4850G>A|||||4850|WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000026193|ENSPANG00000026193|transcript|ENSPANT00000019776.1|protein_coding||c.-2922G>A|||||2922|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 10 1499381 G A A|stop_gained&splice_region_variant|HIGH|COL9A3|ENSPANG00000024126|transcript|ENSPANT00000002177.1|protein_coding|6/32|c.346C>T|p.Gln116*|346/2058|346/2058|116/685|| 0 1 1 0 0 1 0 0 1 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 NA 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 1 1 0 0 0 0 0 NA NA 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 1 0 0 0 1 0 0 0 0 1 0 10 1678744 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000026185|ENSPANG00000026185|transcript|ENSPANT00000007438.1|protein_coding|1/1|c.43-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|missense_variant|MODERATE|SLCO4A1|ENSPANG00000014254|transcript|ENSPANT00000028929.1|protein_coding|1/12|c.98C>T|p.Pro33Leu|164/3031|98/2526|33/841|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 10 1990560 G A A|splice_donor_variant&intron_variant|HIGH|LAMA5|ENSPANG00000025595|transcript|ENSPANT00000006656.1|protein_coding|17/83|c.1885+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 4280911 A G G|stop_lost|HIGH|CDH26|ENSPANG00000021462|transcript|ENSPANT00000002203.1|protein_coding|15/16|c.2131T>C|p.Ter711Argext*?|2131/5258|2131/2133|711/710|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 10 4303826 G A A|stop_gained|HIGH|CDH26|ENSPANG00000021462|transcript|ENSPANT00000002203.1|protein_coding|3/16|c.478C>T|p.Arg160*|478/5258|478/2133|160/710|| 1 1 1 2 2 1 1 2 1 1 1 0 0 0 0 1 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 1 10 5974067 T G G|start_lost|HIGH|ENSPANG00000003916|ENSPANG00000003916|transcript|ENSPANT00000021681.1|protein_coding|1/19|c.2T>G|p.Met1?|2/5707|2/2718|1/905||,G|upstream_gene_variant|MODIFIER|RAB22A|ENSPANG00000022760|transcript|ENSPANT00000023769.1|protein_coding||c.-414A>C|||||414| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 1 0 10 17110648 C T T|stop_gained|HIGH|ENSPANG00000017609|ENSPANG00000017609|transcript|ENSPANT00000006738.1|protein_coding|2/5|c.82C>T|p.Arg28*|82/816|82/816|28/271||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EYA2|ENSPANG00000017608|transcript|ENSPANT00000006734.1|protein_coding|10/15|c.979-6899G>A|||||| 2 2 2 2 2 2 2 2 2 2 2 1 1 1 2 2 1 2 2 1 2 1 1 2 2 0 2 2 2 0 1 1 2 2 2 2 2 2 2 2 1 1 2 2 1 1 2 1 2 2 2 2 1 2 2 2 2 2 1 2 1 2 2 1 2 1 2 2 1 2 0 1 1 0 2 2 1 2 2 2 1 1 1 2 2 2 1 2 1 1 2 1 2 2 1 1 1 1 1 2 10 17768535 G A A|stop_gained|HIGH|ENSPANG00000011162|ENSPANG00000011162|transcript|ENSPANT00000024340.1|protein_coding|16/16|c.2329C>T|p.Arg777*|2329/2364|2329/2364|777/787||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ZNF334|ENSPANG00000021101|transcript|ENSPANT00000012435.1|protein_coding|7/12|c.1946+8287G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 17771036 G C C|stop_gained|HIGH|ENSPANG00000011162|ENSPANG00000011162|transcript|ENSPANT00000024340.1|protein_coding|10/16|c.609C>G|p.Tyr203*|609/2364|609/2364|203/787||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ZNF334|ENSPANG00000021101|transcript|ENSPANT00000012435.1|protein_coding|7/12|c.1946+10788G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 17815527 A G G|splice_acceptor_variant&intron_variant|HIGH|ZNF334|ENSPANG00000021101|transcript|ENSPANT00000012435.1|protein_coding|8/12|c.1954-2A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 1 0 1 0 0 0 0 1 0 0 0 2 0 1 0 0 0 0 2 1 0 2 1 0 0 0 1 0 0 0 2 0 2 0 0 1 0 0 1 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 10 17816182 C T T|stop_gained|HIGH|ZNF334|ENSPANG00000021101|transcript|ENSPANT00000012435.1|protein_coding|11/13|c.2350C>T|p.Arg784*|2536/2823|2350/2637|784/878||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 1 1 1 0 1 1 1 2 0 0 0 2 0 0 0 0 0 0 1 1 1 0 0 0 0 0 1 0 1 0 0 1 1 0 0 0 1 0 0 1 1 0 0 1 0 0 2 1 0 1 0 2 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 1 1 0 1 1 0 0 1 0 0 0 1 0 1 1 0 2 10 17816221 G T T|stop_gained|HIGH|ZNF334|ENSPANG00000021101|transcript|ENSPANT00000012435.1|protein_coding|11/13|c.2389G>T|p.Glu797*|2575/2823|2389/2637|797/878||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 10 18723406 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000007530|ENSPANG00000007530|transcript|ENSPANT00000028784.1|protein_coding|5/5|c.388+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 10 18957262 G A A|splice_donor_variant&intron_variant|HIGH|MATN4|ENSPANG00000009740|transcript|ENSPANT00000012433.1|protein_coding|12/15|c.1003+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 10 19076845 C T T|stop_gained|HIGH|PI3|ENSPANG00000023203|transcript|ENSPANT00000027489.1|protein_coding|2/2|c.174G>A|p.Trp58*|174/354|174/354|58/117|| 1 1 1 1 2 1 1 2 2 1 1 0 1 0 1 0 0 0 0 2 0 1 0 2 0 1 1 0 0 0 1 0 0 0 0 0 0 1 0 0 1 1 0 1 1 1 0 1 1 2 0 1 1 1 0 0 0 1 0 0 1 1 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 1 1 0 0 0 0 2 0 1 0 0 1 0 1 0 0 1 0 0 0 0 0 0 10 19610195 G C C|start_lost|HIGH|ADA|ENSPANG00000023202|transcript|ENSPANT00000011761.1|protein_coding|1/11|c.3G>C|p.Leu1?|3/1086|3/1086|1/361||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ADA|ENSPANG00000023202|transcript|ENSPANT00000011760.2|protein_coding|1/8|c.34-1513G>C|||||| 1 2 2 2 2 2 1 2 2 1 2 1 2 0 1 2 2 1 2 2 2 2 1 2 2 2 2 1 2 2 2 1 2 2 1 1 2 2 2 2 1 2 0 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 1 2 2 1 2 1 2 0 1 1 1 1 2 1 1 2 1 0 1 2 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 10 21932924 C A A|stop_gained|HIGH|ENSPANG00000009329|ENSPANG00000009329|transcript|ENSPANT00000026322.1|protein_coding|1/1|c.367G>T|p.Glu123*|367/603|367/603|123/200||,A|intron_variant|MODIFIER|PTPRT|ENSPANG00000010915|transcript|ENSPANT00000009965.1|protein_coding|5/24|c.774+4442C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 10 21933034 C T T|stop_gained|HIGH|ENSPANG00000009329|ENSPANG00000009329|transcript|ENSPANT00000026322.1|protein_coding|1/1|c.257G>A|p.Trp86*|257/603|257/603|86/200||,T|intron_variant|MODIFIER|PTPRT|ENSPANG00000010915|transcript|ENSPANT00000009965.1|protein_coding|5/24|c.774+4552C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 10 25207931 A T T|stop_gained|HIGH|ENSPANG00000016617|ENSPANG00000016617|transcript|ENSPANT00000011804.1|protein_coding|1/5|c.70A>T|p.Lys24*|70/714|70/714|24/237||,T|intron_variant|MODIFIER|DHX35|ENSPANG00000016616|transcript|ENSPANT00000011803.1|protein_coding|3/21|c.369+5936T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 26794642 C T T|stop_gained|HIGH|SRC|ENSPANG00000015298|transcript|ENSPANT00000007201.1|protein_coding|1/12|c.162G>A|p.Trp54*|162/5033|162/1884|54/627|| 2 2 2 2 2 2 2 2 2 2 2 0 1 2 2 2 0 2 2 0 2 2 2 2 2 1 1 1 2 2 2 2 2 2 1 2 1 2 2 2 2 1 1 2 2 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 2 2 1 2 1 2 2 2 1 2 2 2 1 1 2 1 2 1 2 2 2 2 2 1 2 0 2 2 1 2 2 1 1 1 1 2 1 10 29380684 T A A|stop_gained|HIGH|ENSPANG00000020000|ENSPANG00000020000|transcript|ENSPANT00000013707.1|protein_coding|2/2|c.459T>A|p.Tyr153*|459/507|459/507|153/168||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 0 0 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 31087236 G A A|stop_gained|HIGH|BPIFB4|ENSPANG00000022709|transcript|ENSPANT00000003839.1|protein_coding|4/9|c.676C>T|p.Gln226*|740/1252|676/1188|226/395||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 32728359 C A A|stop_gained|HIGH|DEFB121|ENSPANG00000007164|transcript|ENSPANT00000018921.1|protein_coding|2/2|c.182C>A|p.Ser61*|182/228|182/228|61/75||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 10 33076959 C T T|stop_gained|HIGH|C20orf96|ENSPANG00000017509|transcript|ENSPANT00000008387.1|protein_coding|8/8|c.776G>A|p.Trp259*|1485/1495|776/786|259/261|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 2 1 1 0 1 1 1 0 0 1 0 0 0 0 0 0 1 0 1 1 0 1 0 1 1 0 1 0 1 1 1 1 0 0 1 0 2 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 2 0 1 0 1 1 0 0 0 0 1 0 0 0 0 10 33170790 T C C|start_lost|HIGH|NRSN2|ENSPANG00000023302|transcript|ENSPANT00000008390.1|protein_coding|2/3|c.2T>C|p.Met1?|97/2543|2/615|1/204||,C|upstream_gene_variant|MODIFIER|ENSPANG00000028485|ENSPANG00000028485|transcript|ENSPANT00000029859.1|lincRNA||n.-1039A>G|||||1039| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 1 1 1 1 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 10 34301752 A G G|start_lost|HIGH|SIRPB2|ENSPANG00000000407|transcript|ENSPANT00000002253.1|protein_coding|1/5|c.2T>C|p.Met1?|71/1179|2/1110|1/369|| 1 2 2 2 2 2 1 2 2 1 2 2 1 2 0 0 2 0 2 2 0 2 1 2 2 2 1 1 1 2 1 1 1 1 0 1 2 0 0 0 1 1 1 1 0 1 2 2 1 1 2 0 2 1 1 0 0 0 1 0 1 2 1 1 1 1 0 1 2 1 2 2 0 1 1 1 2 0 2 0 0 1 0 1 0 0 0 2 2 1 1 1 1 2 1 1 2 0 2 1 10 34389189 G A A|stop_gained|HIGH|ENSPANG00000009937|ENSPANG00000009937|transcript|ENSPANT00000029088.1|protein_coding|3/5|c.697C>T|p.Gln233*|697/1193|697/1191|233/396|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 34389459 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000009937|ENSPANG00000009937|transcript|ENSPANT00000029088.1|protein_coding|2/4|c.428-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 34422157 G A A|stop_gained|HIGH|ENSPANG00000025542|ENSPANG00000025542|transcript|ENSPANT00000022253.1|protein_coding|3/5|c.715C>T|p.Arg239*|715/1194|715/1194|239/397|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 34422442 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025542|ENSPANG00000025542|transcript|ENSPANT00000022253.1|protein_coding|2/4|c.431-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 1 0 2 1 1 2 2 2 0 2 2 2 1 1 0 1 2 1 0 0 1 0 1 2 1 2 1 2 1 1 1 1 1 0 2 1 2 1 0 2 0 2 1 1 0 0 0 1 1 1 1 0 2 0 1 2 1 1 1 1 0 2 1 1 1 0 0 1 0 1 1 1 2 1 1 1 0 0 2 1 1 1 0 0 1 2 1 0 0 1 10 35332994 C T T|stop_gained&splice_region_variant|HIGH|TMC2|ENSPANG00000016040|transcript|ENSPANT00000019029.1|protein_coding|2/20|c.37C>T|p.Arg13*|37/2715|37/2715|13/904||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 35588205 G A A|stop_gained|HIGH|CPXM1|ENSPANG00000003904|transcript|ENSPANT00000011699.1|protein_coding|14/14|c.2188C>T|p.Gln730*|2843/3996|2188/2199|730/732|| 1 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 10 36473661 G A A|stop_gained|HIGH|ADAM33|ENSPANG00000023583|transcript|ENSPANT00000006813.1|protein_coding|23/23|c.2407C>T|p.Gln803*|2407/2439|2407/2439|803/812|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 36690650 C A A|stop_gained|HIGH|PANK2|ENSPANG00000009618|transcript|ENSPANT00000022248.1|protein_coding|1/8|c.53C>A|p.Ser18*|53/2049|53/1707|18/568|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 38727924 G A A|splice_donor_variant&intron_variant|HIGH|MCM8|ENSPANG00000022389|transcript|ENSPANT00000028780.1|protein_coding|1/18|c.-6+1G>A||||||,A|upstream_gene_variant|MODIFIER|TRMT6|ENSPANG00000009284|transcript|ENSPANT00000025931.1|protein_coding||c.-1228C>T|||||1228| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 0 2 1 2 2 2 2 1 2 1 1 2 2 2 0 2 1 2 2 1 2 2 2 1 2 1 1 0 1 2 0 1 1 2 2 2 1 2 2 2 2 2 2 2 1 0 2 2 1 2 2 2 2 2 2 2 1 2 2 1 2 2 2 2 2 0 1 2 2 1 2 2 2 2 2 2 0 2 0 10 38749646 G A A|splice_donor_variant&intron_variant|HIGH|MCM8|ENSPANG00000022389|transcript|ENSPANT00000028780.1|protein_coding|12/18|c.1404+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 46544224 G T T|splice_donor_variant&intron_variant|HIGH|NDUFAF5|ENSPANG00000022387|transcript|ENSPANT00000025830.1|protein_coding|5/10|c.479+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA NA 1 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 NA 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 NA 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA NA NA 0 NA 0 10 53241259 C G G|splice_acceptor_variant&intron_variant|HIGH|RALGAPA2|ENSPANG00000018089|transcript|ENSPANT00000018513.1|protein_coding|31/40|c.3817-1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 53310369 A G G|splice_acceptor_variant&intron_variant|HIGH|RALGAPA2|ENSPANG00000018089|transcript|ENSPANT00000018513.1|protein_coding|17/40|c.2271-2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 10 55735656 C A A|stop_gained|HIGH|SSTR4|ENSPANG00000004090|transcript|ENSPANT00000015752.1|protein_coding|2/2|c.108C>A|p.Tyr36*|108/1113|108/1113|36/370|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 55736252 C A A|stop_gained|HIGH|SSTR4|ENSPANG00000004090|transcript|ENSPANT00000015752.1|protein_coding|2/2|c.704C>A|p.Ser235*|704/1113|704/1113|235/370|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 55736452 C T T|stop_gained|HIGH|SSTR4|ENSPANG00000004090|transcript|ENSPANT00000015752.1|protein_coding|2/2|c.904C>T|p.Arg302*|904/1113|904/1113|302/370|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 10 56301644 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000028483|ENSPANG00000028483|transcript|ENSPANT00000030767.1|lincRNA|1/1|n.151-1G>A||||||,A|upstream_gene_variant|MODIFIER|CST9|ENSPANG00000000660|transcript|ENSPANT00000013654.1|protein_coding||c.-2029C>T|||||2029|,A|upstream_gene_variant|MODIFIER|ENSPANG00000028326|ENSPANG00000028326|transcript|ENSPANT00000030383.1|lincRNA||n.-292G>A|||||292| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 10 56515445 T C C|start_lost|HIGH|CST5|ENSPANG00000006984|transcript|ENSPANT00000022788.1|protein_coding|1/3|c.1A>G|p.Met1?|102/784|1/432|1/143|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 60259517 G A A|start_lost|HIGH|ENSPANG00000003897|ENSPANG00000003897|transcript|ENSPANT00000015777.1|protein_coding|1/6|c.3G>A|p.Met1?|3/1875|3/1875|1/624||,A|downstream_gene_variant|MODIFIER|COA3|ENSPANG00000015871|transcript|ENSPANT00000008266.1|protein_coding||c.*4406C>T|||||4406|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 10 60262161 G T T|stop_gained|HIGH|ENSPANG00000003897|ENSPANG00000003897|transcript|ENSPANT00000015777.1|protein_coding|5/6|c.1384G>T|p.Gly462*|1384/1875|1384/1875|462/624||,T|downstream_gene_variant|MODIFIER|COA3|ENSPANG00000015871|transcript|ENSPANT00000008266.1|protein_coding||c.*1762C>A|||||1762|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 1 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 10 60262490 C T T|stop_gained|HIGH|ENSPANG00000003897|ENSPANG00000003897|transcript|ENSPANT00000015777.1|protein_coding|6/6|c.1711C>T|p.Gln571*|1711/1875|1711/1875|571/624||,T|downstream_gene_variant|MODIFIER|COA3|ENSPANG00000015871|transcript|ENSPANT00000008266.1|protein_coding||c.*1433G>A|||||1433|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 60691932 T C C|start_lost|HIGH|C22orf39|ENSPANG00000010340|transcript|ENSPANT00000004951.1|protein_coding|1/3|c.1A>G|p.Met1?|1/2084|1/429|1/142||,C|downstream_gene_variant|MODIFIER|UFD1L|ENSPANG00000026172|transcript|ENSPANT00000004953.1|protein_coding||c.*2756A>G|||||2707|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 61199034 A C C|splice_donor_variant&intron_variant|HIGH|TXNRD2|ENSPANG00000010339|transcript|ENSPANT00000019604.1|protein_coding|1/18|c.63+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 61232500 C T T|stop_gained|HIGH|ARVCF|ENSPANG00000007369|transcript|ENSPANT00000004881.2|protein_coding|12/19|c.2085G>A|p.Trp695*|2465/3287|2085/2895|695/964||,T|stop_gained|HIGH|ARVCF|ENSPANG00000007369|transcript|ENSPANT00000004882.1|protein_coding|11/18|c.2067G>A|p.Trp689*|2447/3263|2067/2871|689/956|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 10 61394689 T C C|splice_donor_variant&intron_variant|HIGH|RANBP1|ENSPANG00000024087|transcript|ENSPANT00000009872.1|protein_coding|2/4|c.310+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|SNORA77|ENSPANG00000004903|transcript|ENSPANT00000000558.1|snoRNA||n.-4486T>C|||||4486| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA NA 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 NA 0 0 10 61398201 G A A|splice_donor_variant&intron_variant|HIGH|RANBP1|ENSPANG00000024087|transcript|ENSPANT00000009872.1|protein_coding|3/4|c.439+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|upstream_gene_variant|MODIFIER|SNORA77|ENSPANG00000004903|transcript|ENSPANT00000000558.1|snoRNA||n.-974G>A|||||974| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 10 61727557 A C C|stop_lost|HIGH|KLHL22|ENSPANG00000012339|transcript|ENSPANT00000022787.1|protein_coding|6/6|c.1615T>G|p.Ter539Glyext*?|1724/5273|1615/1617|539/538||,C|intron_variant|MODIFIER|KLHL22|ENSPANG00000012339|transcript|ENSPANT00000024437.2|protein_coding|6/7|c.1539+76T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 10 63027009 G A A|splice_donor_variant&intron_variant|HIGH|IGLV11-55|ENSPANG00000023253|transcript|ENSPANT00000018331.1|protein_coding|1/2|c.46+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 1 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 10 63056807 C G G|stop_gained|HIGH|IGLV11-55|ENSPANG00000023253|transcript|ENSPANT00000018331.1|protein_coding|2/3|c.281C>G|p.Ser94*|281/411|281/411|94/136||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|ENSPANG00000006978|ENSPANG00000006978|transcript|ENSPANT00000016442.1|protein_coding||c.-4807G>C|||||4807|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 63156952 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000022707|ENSPANG00000022707|transcript|ENSPANT00000022785.1|protein_coding|1/1|c.46+1G>A||||||,A|intron_variant|MODIFIER|ENSPANG00000022435|ENSPANG00000022435|transcript|ENSPANT00000016447.2|protein_coding|1/1|c.50-8003G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ENSPANG00000022435|ENSPANG00000022435|transcript|ENSPANT00000016448.1|protein_coding|1/1|c.50-8003G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 10 63157339 T C C|stop_lost|HIGH|ENSPANG00000022707|ENSPANG00000022707|transcript|ENSPANT00000022785.1|protein_coding|2/2|c.316T>C|p.Ter106Glnext*?|345/922|316/318|106/105||,C|intron_variant|MODIFIER|ENSPANG00000022435|ENSPANG00000022435|transcript|ENSPANT00000016447.2|protein_coding|1/1|c.50-7616T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ENSPANG00000022435|ENSPANG00000022435|transcript|ENSPANT00000016448.1|protein_coding|1/1|c.50-7616T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 0 1 0 1 NA 2 0 2 0 0 0 0 0 0 2 0 0 0 0 1 2 0 0 0 0 0 0 0 2 1 0 0 0 2 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 2 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 10 63367132 C T T|stop_gained|HIGH|IGLV7-46|ENSPANG00000026322|transcript|ENSPANT00000027537.1|protein_coding|2/2|c.76C>T|p.Gln26*|154/497|76/354|26/117||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000022706|ENSPANG00000022706|transcript|ENSPANT00000012151.1|protein_coding||c.-4324C>T|||||4081|,T|intron_variant|MODIFIER|ENSPANG00000021509|ENSPANG00000021509|transcript|ENSPANT00000015849.1|protein_coding|1/1|c.47-14649C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 10 63367389 G A A|stop_gained|HIGH|IGLV7-46|ENSPANG00000026322|transcript|ENSPANT00000027537.1|protein_coding|2/2|c.333G>A|p.Trp111*|411/497|333/354|111/117||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|ENSPANG00000022706|ENSPANG00000022706|transcript|ENSPANT00000012151.1|protein_coding||c.-4067G>A|||||3824|,A|intron_variant|MODIFIER|ENSPANG00000021509|ENSPANG00000021509|transcript|ENSPANT00000015849.1|protein_coding|1/1|c.47-14392G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 10 63367408 C T T|stop_gained|HIGH|IGLV7-46|ENSPANG00000026322|transcript|ENSPANT00000027537.1|protein_coding|2/2|c.352C>T|p.Gln118*|430/497|352/354|118/117||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000022706|ENSPANG00000022706|transcript|ENSPANT00000012151.1|protein_coding||c.-4048C>T|||||3805|,T|intron_variant|MODIFIER|ENSPANG00000021509|ENSPANG00000021509|transcript|ENSPANT00000015849.1|protein_coding|1/1|c.47-14373C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 10 63381890 T A A|stop_gained|HIGH|ENSPANG00000021509|ENSPANG00000021509|transcript|ENSPANT00000015849.1|protein_coding|2/2|c.156T>A|p.Tyr52*|156/482|156/456|52/151||,A|downstream_gene_variant|MODIFIER|ENSPANG00000028700|ENSPANG00000028700|transcript|ENSPANT00000029597.1|lincRNA||n.*3028A>T|||||3028| 0 0 1 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 0 0 0 0 1 1 1 0 0 NA 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 0 10 63397378 C T T|stop_gained|HIGH|IGLV9-49|ENSPANG00000026269|transcript|ENSPANT00000016451.1|protein_coding|2/2|c.169C>T|p.Gln57*|199/1189|169/372|57/123||,T|intron_variant|MODIFIER|ENSPANG00000028700|ENSPANG00000028700|transcript|ENSPANT00000029597.1|lincRNA|1/1|n.358+10306G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0 0 0 0 10 63409204 C T T|stop_gained|HIGH|ENSPANG00000007715|ENSPANG00000007715|transcript|ENSPANT00000016460.1|protein_coding|2/2|c.385C>T|p.Gln129*|385/481|385/468|129/155||,T|upstream_gene_variant|MODIFIER|ENSPANG00000028700|ENSPANG00000028700|transcript|ENSPANT00000029597.1|lincRNA||n.-1163G>A|||||1163|,T|intron_variant|MODIFIER|IGLV5-37|ENSPANG00000015713|transcript|ENSPANT00000016455.1|protein_coding|1/1|c.46+5270C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 63422400 C T T|stop_gained|HIGH|ENSPANG00000019631|ENSPANG00000019631|transcript|ENSPANT00000016465.1|protein_coding|2/2|c.352C>T|p.Gln118*|352/835|352/390|118/129||,T|upstream_gene_variant|MODIFIER|ENSPANG00000007714|ENSPANG00000007714|transcript|ENSPANT00000024858.1|protein_coding||c.-4198C>T|||||4198|,T|intron_variant|MODIFIER|IGLV5-37|ENSPANG00000015713|transcript|ENSPANT00000016455.1|protein_coding|1/1|c.46+18466C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 10 63448576 A C C|stop_lost|HIGH|IGLV5-37|ENSPANG00000015713|transcript|ENSPANT00000016455.1|protein_coding|2/2|c.342A>C|p.Ter114Tyrext*?|360/987|342/342|114/113||,C|upstream_gene_variant|MODIFIER|ENSPANG00000026171|ENSPANG00000026171|transcript|ENSPANT00000020219.1|protein_coding||c.-4271A>C|||||4246| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 10 63630353 C A A|stop_gained|HIGH|ZNF280A|ENSPANG00000001575|transcript|ENSPANT00000001283.1|protein_coding|1/1|c.478G>T|p.Glu160*|478/1605|478/1605|160/534||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 10 63649819 C T T|stop_gained|HIGH|ENSPANG00000009727|ENSPANG00000009727|transcript|ENSPANT00000018377.1|protein_coding|2/2|c.163C>T|p.Gln55*|277/521|163/336|55/111||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 1 0 1 1 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 1 0 0 0 0 0 10 63751330 G A A|stop_gained|HIGH|IGLV3-10|ENSPANG00000019630|transcript|ENSPANT00000027536.1|protein_coding|2/2|c.216G>A|p.Trp72*|216/351|216/351|72/116||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|IGLV3-10|ENSPANG00000019630|transcript|ENSPANT00000028924.1|protein_coding|2/2|c.204+12G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 10 63964029 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000011157|ENSPANG00000011157|transcript|ENSPANT00000015872.1|protein_coding|1/5|c.46+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 1 0 1 0 1 0 0 0 1 0 0 1 1 1 0 0 10 63964691 C T T|stop_gained|HIGH|ENSPANG00000011157|ENSPANG00000011157|transcript|ENSPANT00000015872.1|protein_coding|3/6|c.232C>T|p.Arg78*|232/699|232/699|78/232|| 0 0 1 1 0 1 0 0 0 0 0 1 1 2 2 2 0 1 0 1 1 1 1 0 1 0 1 0 1 1 0 1 0 2 1 1 0 1 1 2 1 0 0 1 2 0 0 1 2 2 1 0 0 2 1 2 2 1 2 1 1 0 1 1 0 1 0 0 0 2 0 0 1 1 0 2 0 2 0 2 1 2 0 0 0 1 1 1 0 2 1 1 1 1 1 0 1 1 0 0 10 64607121 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000016604|ENSPANG00000016604|transcript|ENSPANT00000021734.1|protein_coding|3/3|c.1220+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 1 1 0 1 0 0 0 NA 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 1 2 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 1 0 0 2 0 2 0 0 1 1 0 0 0 0 0 1 0 0 1 0 1 0 1 1 0 2 0 10 64978654 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020038|ENSPANG00000020038|transcript|ENSPANT00000024327.1|protein_coding|7/13|c.786+2T>C|||||| 1 0 2 1 1 2 0 1 0 1 1 2 1 2 2 1 0 1 2 0 2 0 1 0 1 2 2 0 1 2 0 0 2 0 1 0 0 1 1 1 2 0 1 0 1 1 0 NA 1 0 2 0 1 1 2 1 2 0 2 0 1 2 1 1 0 1 1 0 NA 1 2 0 2 2 0 2 2 1 2 1 1 NA 1 1 1 0 1 1 0 1 1 1 1 1 2 1 1 1 2 1 10 65037718 T G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000016400|ENSPANG00000016400|transcript|ENSPANT00000023624.1|protein_coding|3/12|c.476+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 10 65041751 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000016400|ENSPANG00000016400|transcript|ENSPANT00000023624.1|protein_coding|8/12|c.1377+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 10 65090873 G A A|stop_gained|HIGH|ENSPANG00000016736|ENSPANG00000016736|transcript|ENSPANT00000023623.1|protein_coding|3/13|c.432G>A|p.Trp144*|432/1812|432/1812|144/603|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 10 65099073 G A A|stop_gained|HIGH|ENSPANG00000016736|ENSPANG00000016736|transcript|ENSPANT00000023623.1|protein_coding|13/13|c.1709G>A|p.Trp570*|1709/1812|1709/1812|570/603|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 65173860 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000004877|ENSPANG00000004877|transcript|ENSPANT00000017615.1|protein_coding|7/7|c.623-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 65984071 G A A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000024083|ENSPANG00000024083|transcript|ENSPANT00000003918.1|protein_coding|3/9|c.76-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|ENSPANG00000022073|ENSPANG00000022073|transcript|ENSPANT00000019102.1|miRNA||n.*78G>A|||||78| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 2 0 0 0 NA 0 0 1 0 2 0 0 0 0 0 2 0 2 0 0 0 0 0 0 0 0 1 1 1 0 0 1 1 0 0 0 0 0 1 0 0 0 0 10 66395966 A G G|start_lost|HIGH|ENSPANG00000018713|ENSPANG00000018713|transcript|ENSPANT00000018341.1|protein_coding|1/24|c.1A>G|p.Met1?|1/6467|1/3909|1/1302|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 10 69904272 A C C|stop_gained|HIGH|AP1B1|ENSPANG00000011720|transcript|ENSPANT00000024326.1|protein_coding|6/23|c.687T>G|p.Tyr229*|939/3102|687/2850|229/949|| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 NA 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 10 73008261 G A A|stop_gained|HIGH|BPIFC|ENSPANG00000016603|transcript|ENSPANT00000013859.1|protein_coding|4/15|c.442C>T|p.Arg148*|442/1524|442/1524|148/507|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 76068505 T C C|start_lost|HIGH|RASD2|ENSPANG00000009931|transcript|ENSPANT00000006651.1|protein_coding|1/2|c.2T>C|p.Met1?|2/2805|2/765|1/254|| 0 1 0 0 1 1 1 1 1 1 0 0 1 0 0 0 0 1 0 1 0 1 0 0 0 1 0 1 0 2 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 1 1 0 NA 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 1 1 0 2 0 0 2 0 0 0 NA 2 0 0 0 1 1 0 0 0 0 0 0 0 1 1 1 0 1 0 0 2 0 10 76217171 T C C|splice_donor_variant&intron_variant|HIGH|APOL5|ENSPANG00000025581|transcript|ENSPANT00000008443.1|protein_coding|1/3|c.-6+2T>C|||||| 0 0 1 1 0 0 0 0 0 0 0 1 0 2 0 0 2 0 1 1 0 0 1 0 0 0 0 1 2 0 0 0 2 1 2 0 1 0 0 0 1 1 1 1 1 0 0 0 0 1 1 0 0 1 2 2 0 1 1 0 0 0 0 1 2 0 0 1 0 1 0 1 1 0 2 0 1 0 0 0 1 0 0 0 2 1 0 0 1 2 0 0 0 1 0 0 2 0 0 0 10 76223297 C T T|stop_gained|HIGH|APOL5|ENSPANG00000025581|transcript|ENSPANT00000008443.1|protein_coding|2/4|c.778C>T|p.Gln260*|907/6224|778/1113|260/370|| 1 0 1 1 1 1 0 1 1 1 1 1 1 2 1 1 2 1 2 2 2 2 2 2 1 0 0 2 2 0 2 2 2 1 2 2 1 1 1 1 2 2 1 1 2 1 2 2 2 2 1 2 1 2 2 2 2 2 1 1 2 0 2 2 2 2 2 2 1 2 0 2 2 1 2 1 1 0 0 1 1 2 2 0 2 2 0 2 2 2 2 2 1 1 2 1 2 1 0 2 10 77814528 C G G|splice_donor_variant&intron_variant|HIGH|LGALS2|ENSPANG00000016600|transcript|ENSPANT00000010113.1|protein_coding|2/3|c.89+1G>C||||||,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSPANG00000025198|transcript|ENSPANT00000017708.1|protein_coding||c.*3355C>G|||||3355|,G|downstream_gene_variant|MODIFIER|CDC42EP1|ENSPANG00000025198|transcript|ENSPANT00000010445.2|protein_coding||c.*3355C>G|||||3355| 1 1 1 1 0 0 1 0 0 0 1 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 2 1 1 1 0 0 0 0 1 0 0 1 0 1 1 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 1 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 1 0 1 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 10 78377195 T C C|start_lost|HIGH|BAIAP2L2|ENSPANG00000013810|transcript|ENSPANT00000008072.1|protein_coding|1/8|c.1A>G|p.Met1?|1/1014|1/1014|1/337||,C|downstream_gene_variant|MODIFIER|PLA2G6|ENSPANG00000020907|transcript|ENSPANT00000012931.1|protein_coding||c.*1550A>G|||||524| 0 1 0 0 1 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 10 79188510 T G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000006941|ENSPANG00000006941|transcript|ENSPANT00000009742.1|protein_coding|1/4|c.29+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 79190446 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000006941|ENSPANG00000006941|transcript|ENSPANT00000009742.1|protein_coding|2/4|c.183+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 79252586 G A A|stop_gained|HIGH|ENSPANG00000012332|ENSPANG00000012332|transcript|ENSPANT00000005893.1|protein_coding|5/6|c.968G>A|p.Trp323*|968/1161|968/1161|323/386||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000009746.2|protein_coding|3/6|c.455-13569G>A||||||,A|intron_variant|MODIFIER|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000009749.2|protein_coding|3/3|c.454+14329G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 79263665 C T T|stop_gained|HIGH|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000009752.1|protein_coding|2/8|c.40C>T|p.Arg14*|40/1916|40/1152|14/383||,T|intron_variant|MODIFIER|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000009746.2|protein_coding|3/6|c.455-2490C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000009749.2|protein_coding|3/3|c.455-9656C>T||||||,T|intron_variant|MODIFIER|APOBEC3G|ENSPANG00000010775|transcript|ENSPANT00000007336.1|protein_coding|2/7|c.13-72C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 81104779 C A A|stop_gained|HIGH|DNAJB7|ENSPANG00000010399|transcript|ENSPANT00000019684.1|protein_coding|1/1|c.223G>T|p.Gly75*|223/927|223/927|75/308||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|XPNPEP3|ENSPANG00000007027|transcript|ENSPANT00000017652.1|protein_coding|1/9|c.64+5135C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 10 81907036 C T T|stop_gained|HIGH|XRCC6|ENSPANG00000001252|transcript|ENSPANT00000005890.1|protein_coding|4/12|c.583C>T|p.Arg195*|598/1848|583/1833|195/610|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 82091560 G A A|stop_gained|HIGH|SREBF2|ENSPANG00000008691|transcript|ENSPANT00000019035.2|protein_coding|1/19|c.237G>A|p.Trp79*|237/3756|237/3756|79/1251|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 10 82308159 G C C|stop_lost&splice_region_variant|HIGH|ENSPANG00000008690|ENSPANG00000008690|transcript|ENSPANT00000006825.1|protein_coding|6/6|c.552G>C|p.Ter184Tyrext*?|552/552|552/552|184/183|| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 10 82410763 G A A|stop_gained|HIGH|ENSPANG00000024403|ENSPANG00000024403|transcript|ENSPANT00000009675.1|protein_coding|1/9|c.1C>T|p.Gln1*|1/1524|1/1524|1/507||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 10 84016466 A G G|start_lost|HIGH|EFCAB6|ENSPANG00000004082|transcript|ENSPANT00000006866.1|protein_coding|3/32|c.2T>C|p.Met1?|368/5530|2/4518|1/1505|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 84329774 C T T|stop_gained|HIGH|PARVB|ENSPANG00000023488|transcript|ENSPANT00000009866.1|protein_coding|1/13|c.34C>T|p.Gln12*|34/1101|34/1101|12/366||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|PARVB|ENSPANG00000023488|transcript|ENSPANT00000021346.2|protein_coding|1/12|c.113-375C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 10 85002938 T C C|start_lost|HIGH|ENSPANG00000009991|ENSPANG00000009991|transcript|ENSPANT00000025824.1|protein_coding|1/9|c.2T>C|p.Met1?|2/6072|2/1122|1/373|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 85543540 G A A|stop_gained|HIGH|SMC1B|ENSPANG00000017866|transcript|ENSPANT00000018474.1|protein_coding|20/25|c.3064C>T|p.Arg1022*|3064/3705|3064/3705|1022/1234||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 85728274 T C C|splice_acceptor_variant&intron_variant|HIGH|FBLN1|ENSPANG00000012451|transcript|ENSPANT00000024969.1|protein_coding|10/18|c.839-2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 1 2 2 2 1 1 2 1 1 1 1 0 1 1 2 2 2 2 1 1 1 1 2 2 1 2 2 1 2 2 1 1 1 1 2 2 2 2 2 1 2 1 2 2 1 0 2 1 2 1 1 2 1 2 2 2 0 2 1 2 0 2 1 1 2 0 2 1 2 2 2 1 1 1 2 1 1 1 2 2 2 1 0 2 2 2 2 1 1 2 2 1 2 2 2 1 2 2 2 0 10 85728275 G A A|splice_acceptor_variant&intron_variant|HIGH|FBLN1|ENSPANG00000012451|transcript|ENSPANT00000024969.1|protein_coding|10/18|c.839-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 2 0 0 0 0 0 1 0 0 0 0 2 0 0 10 89947634 C A A|stop_gained|HIGH|BRD1|ENSPANG00000018351|transcript|ENSPANT00000006398.1|protein_coding|7/12|c.2437G>T|p.Glu813*|2451/5571|2437/3177|813/1058|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 90467589 T G G|splice_acceptor_variant&intron_variant|HIGH|DENND6B|ENSPANG00000017018|transcript|ENSPANT00000000104.1|protein_coding|14/19|c.1204-2A>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 6928681 C G G|splice_acceptor_variant&intron_variant|HIGH|CD4|ENSPANG00000020297|transcript|ENSPANT00000000307.1|protein_coding|6/10|c.947-2C>G||||||,G|intron_variant|MODIFIER|CD4|ENSPANG00000020297|transcript|ENSPANT00000000306.2|protein_coding|6/9|c.956-358C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 6950019 T C C|splice_donor_variant&intron_variant|HIGH|P3H3|ENSPANG00000020167|transcript|ENSPANT00000000309.1|protein_coding|13/16|c.1826+2T>C||||||,C|upstream_gene_variant|MODIFIER|GNB3|ENSPANG00000020582|transcript|ENSPANT00000000310.1|protein_coding||c.-2767T>C|||||2767|WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 1 2 2 1 1 2 0 2 0 0 0 0 0 1 1 0 0 1 1 1 0 2 0 1 1 1 0 0 0 0 1 0 0 2 0 0 0 0 0 1 2 0 0 0 1 0 1 2 0 1 1 0 0 1 0 0 1 0 0 1 0 0 1 0 1 1 0 0 0 0 0 1 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 11 6950121 C T T|splice_acceptor_variant&intron_variant|HIGH|P3H3|ENSPANG00000020167|transcript|ENSPANT00000000309.1|protein_coding|13/16|c.1827-2C>T||||||,T|upstream_gene_variant|MODIFIER|GNB3|ENSPANG00000020582|transcript|ENSPANT00000000310.1|protein_coding||c.-2665C>T|||||2665|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 7082803 A G G|splice_acceptor_variant&intron_variant|HIGH|PTPN6|ENSPANG00000024514|transcript|ENSPANT00000019459.1|protein_coding|13/15|c.1582-2A>G||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000003345|ENSPANG00000003345|transcript|ENSPANT00000007172.1|miRNA||n.-3362A>G|||||3362|,G|upstream_gene_variant|MODIFIER|ENSPANG00000001715|ENSPANG00000001715|transcript|ENSPANT00000013226.1|miRNA||n.-3757A>G|||||3757| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 7220739 A G G|stop_lost|HIGH|ENSPANG00000014121|ENSPANG00000014121|transcript|ENSPANT00000006116.1|protein_coding|8/8|c.1126T>C|p.Ter376Glnext*?|1126/2024|1126/1128|376/375|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 7240853 C T T|stop_gained|HIGH|ENSPANG00000006741|ENSPANG00000006741|transcript|ENSPANT00000016861.1|protein_coding|14/14|c.2212C>T|p.Gln738*|2212/2760|2212/2319|738/772||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ENSPANG00000000599|ENSPANG00000000599|transcript|ENSPANT00000016863.1|protein_coding||c.*2897G>A|||||2897|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 11 7441064 G A A|splice_donor_variant&intron_variant|HIGH|ACSM4|ENSPANG00000013788|transcript|ENSPANT00000008039.1|protein_coding|5/12|c.921+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 7588114 G A A|stop_gained|HIGH|CD163L1|ENSPANG00000006740|transcript|ENSPANT00000028813.1|protein_coding|1/13|c.16C>T|p.Gln6*|16/3315|16/3315|6/1104|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 11 8231974 G A A|splice_donor_variant&intron_variant|HIGH|CLEC4A|ENSPANG00000007775|transcript|ENSPANT00000004319.1|protein_coding|5/5|c.566+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 8724105 T C C|splice_donor_variant&intron_variant|HIGH|A2ML1|ENSPANG00000014886|transcript|ENSPANT00000007067.1|protein_coding|39/39|c.*1+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 11 9101609 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000006739|ENSPANG00000006739|transcript|ENSPANT00000001116.1|protein_coding|33/40|c.3544+2T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|downstream_gene_variant|MODIFIER|ENSPANG00000027937|ENSPANG00000027937|transcript|ENSPANT00000030587.1|lincRNA||n.*600A>G|||||600| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 9109443 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000006739|ENSPANG00000006739|transcript|ENSPANT00000001116.1|protein_coding|26/40|c.2807-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 11 9193399 A T T|stop_gained|HIGH|ENSPANG00000025661|ENSPANG00000025661|transcript|ENSPANT00000001117.1|protein_coding|16/35|c.1647T>A|p.Tyr549*|1931/4442|1647/4158|549/1385|| 0 1 1 1 2 2 0 1 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 11 9503270 G A A|stop_gained|HIGH|KLRB1|ENSPANG00000017447|transcript|ENSPANT00000006115.1|protein_coding|3/6|c.214C>T|p.Gln72*|330/806|214/690|72/229||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 0 0 1 1 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 11 9588557 A G G|start_lost|HIGH|CLEC2D|ENSPANG00000015790|transcript|ENSPANT00000002735.1|protein_coding|1/5|c.1A>G|p.Met1?|1/615|1/615|1/204|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 11 9660505 A T T|stop_gained|HIGH|CLECL1|ENSPANG00000008135|transcript|ENSPANT00000009119.1|protein_coding|1/4|c.116T>A|p.Leu39*|116/501|116/501|39/166||WARNING_TRANSCRIPT_NO_STOP_CODON 2 1 1 1 0 0 2 1 1 2 0 2 2 1 2 2 0 1 2 2 2 1 0 1 0 1 1 0 1 0 0 1 1 1 0 1 0 0 2 2 1 2 0 0 1 1 2 0 1 1 1 1 0 0 2 0 2 0 2 0 2 0 0 0 2 0 0 0 2 1 0 1 1 1 2 2 2 2 1 2 1 0 2 1 1 1 2 1 2 0 1 2 1 1 0 0 1 1 0 1 11 9674872 T G G|stop_lost|HIGH|CD69|ENSPANG00000019562|transcript|ENSPANT00000002392.1|protein_coding|5/5|c.599A>C|p.Ter200Serext*?|1544/4072|599/600|200/199|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 11 9788956 A G G|start_lost|HIGH|KLRF2|ENSPANG00000015337|transcript|ENSPANT00000019458.1|protein_coding|1/5|c.1A>G|p.Met1?|72/2283|1/483|1/160|| 1 0 0 0 0 0 1 0 1 0 0 0 0 1 1 1 2 1 1 2 1 1 0 1 1 1 1 0 1 2 1 1 0 1 0 0 1 1 0 0 1 1 1 0 1 2 1 1 1 1 0 0 1 1 0 1 1 1 0 1 2 2 0 2 2 1 1 0 1 1 2 1 1 2 0 0 0 1 1 0 1 1 0 0 2 2 1 1 0 1 1 0 NA 0 2 1 0 2 2 2 11 9942694 C A A|stop_gained|HIGH|ENSPANG00000012262|ENSPANG00000012262|transcript|ENSPANT00000011353.1|protein_coding|5/10|c.260C>A|p.Ser87*|260/642|260/642|87/213|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 11 10032840 C T T|splice_donor_variant&intron_variant|HIGH|CLEC7A|ENSPANG00000025660|transcript|ENSPANT00000008237.1|protein_coding|5/6|c.638+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 10088489 G C C|splice_acceptor_variant&intron_variant|HIGH|TMEM52B|ENSPANG00000006502|transcript|ENSPANT00000016871.1|protein_coding|1/5|c.-49-1G>C||||||,C|intron_variant|MODIFIER|OLR1|ENSPANG00000018732|transcript|ENSPANT00000022541.1|protein_coding|1/6|c.-13-7318C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 11 14279034 G T T|stop_gained|HIGH|ENSPANG00000012070|ENSPANG00000012070|transcript|ENSPANT00000001131.1|protein_coding|7/8|c.1298C>A|p.Ser433*|1298/1341|1298/1341|433/446|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 11 18217211 G C C|stop_lost|HIGH|PIK3C2G|ENSPANG00000010277|transcript|ENSPANT00000020456.1|protein_coding|34/34|c.4460G>C|p.Ter1487Serext*?|4857/5184|4460/4461|1487/1486|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 11 20555302 C A A|stop_gained|HIGH|ENSPANG00000013786|ENSPANG00000013786|transcript|ENSPANT00000020613.1|protein_coding|24/28|c.3356C>A|p.Ser1119*|3543/4936|3356/3969|1119/1322|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 24517271 T C C|start_lost|HIGH|LRMP|ENSPANG00000018182|transcript|ENSPANT00000020363.1|protein_coding|9/30|c.2T>C|p.Met1?|1043/2769|2/1728|1/575|| 1 0 0 0 0 1 1 0 1 0 1 1 0 2 0 0 1 1 1 1 0 1 1 1 0 2 0 0 1 2 1 1 1 1 1 1 1 1 1 0 2 1 1 0 2 0 1 1 1 2 2 1 0 2 1 1 1 1 1 0 1 2 0 1 1 0 1 0 2 0 2 0 0 2 2 0 2 0 2 0 0 1 1 0 1 0 1 2 1 2 0 0 1 0 2 0 1 0 2 1 11 24941080 T A A|splice_acceptor_variant&intron_variant|HIGH|LMNTD1|ENSPANG00000024425|transcript|ENSPANT00000012787.2|protein_coding|9/9|c.*23-2A>T|||||| 0 2 2 1 2 1 1 2 1 1 1 2 2 2 2 2 1 2 2 1 1 2 1 2 2 2 1 1 2 2 2 1 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 1 2 2 1 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 11 36075562 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000005857|ENSPANG00000005857|transcript|ENSPANT00000007604.1|protein_coding|76/82|c.17887+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|upstream_gene_variant|MODIFIER|ENSPANG00000028259|ENSPANG00000028259|transcript|ENSPANT00000030820.1|lincRNA||n.-4619T>C|||||4619| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 38051602 G A A|stop_gained|HIGH|ENSPANG00000019706|ENSPANG00000019706|transcript|ENSPANT00000023313.1|protein_coding|4/4|c.865C>T|p.Arg289*|865/960|865/960|289/319||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PPHLN1|ENSPANG00000009967|transcript|ENSPANT00000009701.1|protein_coding|9/9|c.931-6852G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 11 38051719 T A A|stop_gained|HIGH|ENSPANG00000019706|ENSPANG00000019706|transcript|ENSPANT00000023313.1|protein_coding|4/4|c.748A>T|p.Lys250*|748/960|748/960|250/319||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PPHLN1|ENSPANG00000009967|transcript|ENSPANT00000009701.1|protein_coding|9/9|c.931-6735T>A|||||| 2 1 2 1 0 1 2 1 2 1 1 1 2 2 2 1 1 2 1 1 2 2 0 1 1 0 2 0 1 0 1 1 1 2 0 1 1 0 2 2 1 2 0 1 2 1 2 0 1 2 2 0 1 2 0 0 2 0 2 1 2 0 2 1 2 1 0 0 0 0 0 2 0 0 2 2 0 2 0 2 0 1 1 1 2 0 0 1 2 0 2 1 1 1 1 1 1 1 0 1 11 39383986 A G G|splice_donor_variant&intron_variant|HIGH|PUS7L|ENSPANG00000007286|transcript|ENSPANT00000023312.1|protein_coding|6/11|c.1113+2T>C||||||,G|intron_variant|MODIFIER|PUS7L|ENSPANG00000007286|transcript|ENSPANT00000005202.2|protein_coding|3/8|c.1106+813T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 1 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 NA 1 1 0 0 NA 0 1 0 0 0 0 0 0 NA 0 0 1 0 0 1 0 NA 0 0 0 NA 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 0 0 0 0 11 40972142 G A A|stop_gained|HIGH|ENSPANG00000014767|ENSPANG00000014767|transcript|ENSPANT00000016629.1|protein_coding|1/1|c.184C>T|p.Arg62*|184/441|184/441|62/146||,A|intron_variant|MODIFIER|ANO6|ENSPANG00000013194|transcript|ENSPANT00000025750.1|protein_coding|2/20|c.134-10732G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 11 43071022 C A A|stop_gained|HIGH|ENSPANG00000005952|ENSPANG00000005952|transcript|ENSPANT00000009379.1|protein_coding|2/4|c.133G>T|p.Gly45*|133/492|133/492|45/163||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|SNORA64|ENSPANG00000027089|transcript|ENSPANT00000006533.1|snoRNA||n.*4229G>T|||||4229| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 0 11 43702292 G T T|splice_donor_variant&intron_variant|HIGH|TMEM106C|ENSPANG00000013991|transcript|ENSPANT00000009414.1|protein_coding|1/7|c.-29+1G>T|||||| 0 1 1 1 2 2 0 1 0 1 2 0 0 0 0 0 1 0 0 0 0 2 1 1 1 1 0 1 0 0 1 1 0 0 1 1 0 0 0 0 0 0 1 1 0 0 0 1 1 0 0 0 1 0 0 0 2 0 1 0 0 1 0 1 0 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 1 0 1 1 1 0 0 0 0 11 43902627 T C C|splice_acceptor_variant&intron_variant|HIGH|ASB8|ENSPANG00000012634|transcript|ENSPANT00000018781.1|protein_coding|1/4|c.-130-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 2 0 0 0 0 1 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 1 2 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 0 11 45896580 G T T|stop_gained|HIGH|SMARCD1|ENSPANG00000004051|transcript|ENSPANT00000023967.1|protein_coding|1/13|c.49G>T|p.Gly17*|49/1548|49/1548|17/515||,T|downstream_gene_variant|MODIFIER|ASIC1|ENSPANG00000019747|transcript|ENSPANT00000020138.1|protein_coding||c.*3432G>T|||||3432|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 45931100 G T T|splice_donor_variant&intron_variant|HIGH|COX14|ENSPANG00000000382|transcript|ENSPANT00000007539.1|protein_coding|2/2|c.-9+1G>T||||||,T|upstream_gene_variant|MODIFIER|DPPA3|ENSPANG00000007882|transcript|ENSPANT00000001487.1|protein_coding||c.-1945G>T|||||1945|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 11 48569479 G A A|stop_gained|HIGH|KRT78|ENSPANG00000014116|transcript|ENSPANT00000010266.1|protein_coding|7/9|c.1096C>T|p.Gln366*|1096/1542|1096/1542|366/513||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 11 48843402 A G G|splice_acceptor_variant&intron_variant|HIGH|SOAT2|ENSPANG00000014885|transcript|ENSPANT00000006844.1|protein_coding|9/14|c.922-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 49694518 G A A|stop_gained|HIGH|HOXC13|ENSPANG00000002383|transcript|ENSPANT00000012064.1|protein_coding|1/3|c.60G>A|p.Trp20*|60/990|60/990|20/329||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 50758734 A G G|start_lost|HIGH|NEUROD4|ENSPANG00000024988|transcript|ENSPANT00000015706.1|protein_coding|1/2|c.1A>G|p.Met1?|383/3852|1/1014|1/337|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 50959441 C T T|stop_gained&splice_region_variant|HIGH|OR6C74|ENSPANG00000019793|transcript|ENSPANT00000015436.1|protein_coding|1/1|c.937C>T|p.Arg313*|937/939|937/939|313/312||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 1 0 0 0 0 0 1 1 1 0 0 1 1 0 0 0 0 0 1 0 0 1 0 2 1 0 1 0 0 0 0 1 0 2 0 0 0 1 0 0 0 0 0 1 1 0 0 0 1 0 1 0 1 0 0 0 0 0 0 1 0 0 2 0 1 0 0 0 0 0 0 0 0 1 0 1 2 0 0 0 0 0 1 0 0 11 51040433 C T T|stop_gained|HIGH|OR6C3|ENSPANG00000021402|transcript|ENSPANT00000003339.1|protein_coding|1/1|c.157C>T|p.Gln53*|157/933|157/933|53/310||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 51083944 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000009256|ENSPANG00000009256|transcript|ENSPANT00000023260.1|protein_coding|3/5|c.790+1T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 11 51115743 C T T|stop_gained|HIGH|OR6C76|ENSPANG00000014277|transcript|ENSPANT00000021269.1|protein_coding|1/1|c.550C>T|p.Gln184*|550/930|550/930|184/309||WARNING_TRANSCRIPT_NO_STOP_CODON 1 2 1 1 2 1 2 2 2 2 1 0 2 0 2 1 1 0 0 1 0 1 2 0 1 2 1 1 2 2 1 1 0 2 1 0 0 0 2 1 0 1 1 1 1 1 0 2 1 0 0 0 1 2 0 1 0 0 1 0 1 1 0 1 1 1 1 0 1 0 1 1 0 2 0 1 0 2 1 1 0 1 0 2 1 0 0 0 0 1 0 1 0 2 1 1 0 1 0 0 11 51260076 G A A|stop_gained|HIGH|ITGA7|ENSPANG00000016859|transcript|ENSPANT00000001254.1|protein_coding|27/27|c.3340C>T|p.Arg1114*|3562/6926|3340/3501|1114/1166||,A|3_prime_UTR_variant|MODIFIER|METTL7B|ENSPANG00000015541|transcript|ENSPANT00000001253.1|protein_coding|2/2|c.*1210G>A|||||1210| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 53023500 C T T|stop_gained|HIGH|INHBC|ENSPANG00000012538|transcript|ENSPANT00000001713.1|protein_coding|2/2|c.706C>T|p.Arg236*|706/1059|706/1059|236/352|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 53195774 C T T|stop_gained|HIGH|SLC26A10|ENSPANG00000013233|transcript|ENSPANT00000006145.1|protein_coding|1/17|c.133C>T|p.Gln45*|133/2086|133/2079|45/692||,T|downstream_gene_variant|MODIFIER|ARHGEF25|ENSPANG00000024375|transcript|ENSPANT00000018659.1|protein_coding||c.*2764C>T|||||1523| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 58365300 C T T|stop_gained|HIGH|ENSPANG00000019705|ENSPANG00000019705|transcript|ENSPANT00000027887.1|protein_coding|2/3|c.223C>T|p.Arg75*|223/984|223/984|75/327||,T|intron_variant|MODIFIER|PPM1H|ENSPANG00000014842|transcript|ENSPANT00000006144.1|protein_coding|3/8|c.543-18306G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 11 58365667 C T T|stop_gained|HIGH|ENSPANG00000019705|ENSPANG00000019705|transcript|ENSPANT00000027887.1|protein_coding|3/3|c.586C>T|p.Gln196*|586/984|586/984|196/327||,T|intron_variant|MODIFIER|PPM1H|ENSPANG00000014842|transcript|ENSPANT00000006144.1|protein_coding|3/8|c.543-18673G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 11 58365892 C T T|stop_gained|HIGH|ENSPANG00000019705|ENSPANG00000019705|transcript|ENSPANT00000027887.1|protein_coding|3/3|c.811C>T|p.Gln271*|811/984|811/984|271/327||,T|intron_variant|MODIFIER|PPM1H|ENSPANG00000014842|transcript|ENSPANT00000006144.1|protein_coding|3/8|c.543-18898G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 59749094 C T T|stop_gained&splice_region_variant|HIGH|C12orf56|ENSPANG00000012380|transcript|ENSPANT00000001757.1|protein_coding|10/22|c.486G>A|p.Trp162*|486/1797|486/1797|162/598||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 11 60511378 A G G|splice_acceptor_variant&intron_variant|HIGH|WIF1|ENSPANG00000011642|transcript|ENSPANT00000029273.1|protein_coding|4/9|c.539-2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 11 64998908 G A A|splice_donor_variant&intron_variant|HIGH|CCT2|ENSPANG00000025711|transcript|ENSPANT00000001251.1|protein_coding|8/15|c.750+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 11 65062362 G A A|stop_gained|HIGH|BEST3|ENSPANG00000012909|transcript|ENSPANT00000025743.1|protein_coding|13/13|c.1840C>T|p.Gln614*|2206/2376|1840/2010|614/669|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 65076409 C T T|splice_donor_variant&intron_variant|HIGH|BEST3|ENSPANG00000012909|transcript|ENSPANT00000025743.1|protein_coding|11/12|c.1051+2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 2 0 2 0 0 1 0 0 0 1 1 1 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 1 0 1 1 0 1 0 1 1 1 1 0 0 0 0 0 0 0 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 11 66033222 G A A|stop_gained|HIGH|ENSPANG00000012535|ENSPANG00000012535|transcript|ENSPANT00000021857.1|protein_coding|2/3|c.584G>A|p.Trp195*|584/939|584/939|195/312||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|PTPRR|ENSPANG00000009166|transcript|ENSPANT00000011749.1|protein_coding|8/11|c.1153-10599C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 11 71460776 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000009165|ENSPANG00000009165|transcript|ENSPANT00000025907.1|protein_coding|12/19|c.755+1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 71460802 G A A|stop_gained|HIGH|ENSPANG00000009165|ENSPANG00000009165|transcript|ENSPANT00000025907.1|protein_coding|12/20|c.730C>T|p.Arg244*|730/1215|730/1215|244/404||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 71734933 C A A|stop_gained|HIGH|BBS10|ENSPANG00000026355|transcript|ENSPANT00000025906.1|protein_coding|2/4|c.1009G>T|p.Glu337*|1009/2157|1009/2157|337/718|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 74724097 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000015116|ENSPANG00000015116|transcript|ENSPANT00000022236.1|pseudogene|2/2|n.549+2G>A||||||,A|intron_variant|MODIFIER|SYT1|ENSPANG00000009048|transcript|ENSPANT00000020111.1|protein_coding|6/8|c.834+8563G>A|||||| 1 1 1 1 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 1 1 0 1 1 1 0 0 2 0 1 1 1 1 0 0 1 1 0 0 0 1 1 1 0 0 2 1 0 1 0 0 0 0 0 NA 1 1 0 1 0 1 0 1 1 1 1 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 2 0 0 2 0 0 1 0 0 0 NA 0 0 1 1 2 11 76272188 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000028581|ENSPANG00000028581|transcript|ENSPANT00000030531.1|lincRNA|1/1|n.1086-2A>G||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000003523|ENSPANG00000003523|transcript|ENSPANT00000023300.1|miRNA||n.-1033T>C|||||1033|,G|intron_variant|MODIFIER|LIN7A|ENSPANG00000005931|transcript|ENSPANT00000000648.1|protein_coding|1/4|c.82+779T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 77400001 G A A|stop_gained|HIGH|ENSPANG00000011604|ENSPANG00000011604|transcript|ENSPANT00000028004.1|protein_coding|2/2|c.640C>T|p.Arg214*|640/2855|640/1230|214/409|| 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 2 0 0 0 0 1 1 1 0 0 0 0 0 0 1 1 2 0 0 0 1 0 1 1 0 0 0 0 0 0 0 1 1 1 1 1 2 0 0 0 1 1 0 1 0 1 0 0 0 1 1 0 0 0 2 1 0 1 1 0 0 NA 0 0 0 0 1 0 1 0 1 1 1 0 0 0 0 2 0 1 1 0 0 11 77696483 C A A|stop_gained|HIGH|CCDC59|ENSPANG00000023011|transcript|ENSPANT00000025905.1|protein_coding|2/4|c.298G>T|p.Glu100*|817/1760|298/726|100/241|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 83515855 T C C|stop_lost&splice_region_variant|HIGH|PLXND1|ENSPANG00000005560|transcript|ENSPANT00000000651.1|protein_coding|41/41|c.5908T>C|p.Ter1970Argext*?|5908/5910|5908/5910|1970/1969||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|H1FOO|ENSPANG00000017383|transcript|ENSPANT00000000652.1|protein_coding||c.*4532A>G|||||4532| 1 2 1 1 2 1 1 2 2 1 1 2 0 2 1 1 2 2 2 1 0 2 2 2 1 2 1 2 2 2 2 1 2 1 2 2 2 2 0 0 1 2 2 2 2 2 2 1 1 1 2 2 2 2 2 2 2 2 2 1 2 1 2 2 2 2 1 2 2 2 2 1 2 2 2 2 2 1 1 0 NA 2 1 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 11 87399975 C T T|stop_gained|HIGH|C12orf29|ENSPANG00000020430|transcript|ENSPANT00000019289.1|protein_coding|8/8|c.919C>T|p.Arg307*|1106/1185|919/960|307/319||,T|intron_variant|MODIFIER|CEP290|ENSPANG00000004601|transcript|ENSPANT00000021524.1|protein_coding|56/60|c.6648-1214G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 94885786 G A A|splice_donor_variant&intron_variant|HIGH|METAP2|ENSPANG00000010988|transcript|ENSPANT00000028003.1|protein_coding|2/10|c.259+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA NA 0 0 0 11 97803067 C T T|stop_gained|HIGH|ENSPANG00000010986|ENSPANG00000010986|transcript|ENSPANT00000022938.1|protein_coding|7/8|c.1677G>A|p.Trp559*|1677/1971|1677/1971|559/656|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 11 97803354 G A A|stop_gained|HIGH|ENSPANG00000010986|ENSPANG00000010986|transcript|ENSPANT00000022938.1|protein_coding|6/8|c.1558C>T|p.Gln520*|1558/1971|1558/1971|520/656|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 99605690 G T T|splice_donor_variant&intron_variant|HIGH|ACTR6|ENSPANG00000007907|transcript|ENSPANT00000018417.1|protein_coding|9/10|c.1018+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 100728781 G A A|splice_donor_variant&intron_variant|HIGH|UTP20|ENSPANG00000020388|transcript|ENSPANT00000004811.2|protein_coding|61/61|c.8202+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|UTP20|ENSPANG00000020388|transcript|ENSPANT00000006240.1|protein_coding|61/62|c.8211+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 101431836 G A A|stop_gained|HIGH|PARPBP|ENSPANG00000000345|transcript|ENSPANT00000004420.1|protein_coding|1/11|c.338G>A|p.Trp113*|338/5773|338/2133|113/710||,A|upstream_gene_variant|MODIFIER|NUP37|ENSPANG00000000344|transcript|ENSPANT00000004419.1|protein_coding||c.-1720C>T|||||1655| 2 2 1 1 2 2 1 1 1 2 2 0 0 1 0 0 0 1 0 0 0 0 0 0 1 1 0 0 1 0 0 0 0 1 1 2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 1 0 2 0 0 1 0 0 2 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 1 1 0 0 0 1 1 11 103066302 A C C|start_lost|HIGH|NT5DC3|ENSPANG00000019453|transcript|ENSPANT00000015296.2|protein_coding|1/16|c.2T>G|p.Leu1?|2/1683|2/1683|1/560||,C|upstream_gene_variant|MODIFIER|ENSPANG00000004449|ENSPANG00000004449|transcript|ENSPANT00000015304.1|protein_coding||c.-47A>C|||||47|WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|NT5DC3|ENSPANG00000019453|transcript|ENSPANT00000015301.1|protein_coding||c.-297T>G|||||168|,C|downstream_gene_variant|MODIFIER|ENSPANG00000019703|ENSPANG00000019703|transcript|ENSPANT00000008649.1|protein_coding||c.*2261T>G|||||1587| 0 0 0 0 0 0 0 0 0 0 0 1 2 0 1 2 1 0 2 1 1 1 0 1 1 2 2 0 0 2 1 1 1 0 1 0 1 2 2 2 1 2 1 0 1 2 2 NA 1 0 1 1 1 2 0 1 0 1 0 0 1 2 1 0 2 0 2 0 2 0 2 1 0 2 0 0 NA 2 2 2 0 1 1 1 0 1 0 0 1 1 0 1 1 NA 0 0 1 1 1 1 11 103476638 C T T|stop_gained|HIGH|ENSPANG00000004646|ENSPANG00000004646|transcript|ENSPANT00000006783.1|protein_coding|3/4|c.421C>T|p.Gln141*|421/510|421/510|141/169||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|TXNRD1|ENSPANG00000012060|transcript|ENSPANT00000019486.1|protein_coding|1/16|c.20-5180C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 1 11 104425796 C T T|stop_gained|HIGH|APPL2|ENSPANG00000012253|transcript|ENSPANT00000022537.1|protein_coding|16/23|c.1274G>A|p.Trp425*|1274/1992|1274/1992|425/663|| 2 2 1 1 2 2 1 1 1 2 2 2 0 1 1 0 1 1 1 2 1 2 1 2 0 1 1 2 1 0 1 2 2 0 2 2 1 2 0 0 1 1 1 2 2 2 2 2 2 1 0 2 1 0 1 1 2 2 2 2 1 2 1 1 2 2 2 2 1 2 0 0 2 0 2 2 1 0 1 0 2 1 2 2 1 1 2 0 1 1 0 1 0 1 2 1 1 2 1 1 11 104441975 G A A|splice_donor_variant&intron_variant|HIGH|APPL2|ENSPANG00000012253|transcript|ENSPANT00000022537.1|protein_coding|5/22|c.382+1C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 105949616 G C C|stop_gained|HIGH|ENSPANG00000006800|ENSPANG00000006800|transcript|ENSPANT00000000848.1|protein_coding|1/1|c.42C>G|p.Tyr14*|42/210|42/210|14/69||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|RIC8B|ENSPANG00000003388|transcript|ENSPANT00000009446.1|protein_coding|1/9|c.84+28G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 107004842 A T T|stop_gained|HIGH|ENSPANG00000017170|ENSPANG00000017170|transcript|ENSPANT00000010224.1|protein_coding|1/2|c.28A>T|p.Lys10*|28/951|28/951|10/316|| 0 0 0 0 0 0 0 0 0 0 0 1 2 1 2 2 0 0 0 0 1 1 0 1 0 0 2 0 1 0 0 0 1 1 1 1 0 0 2 2 0 1 0 0 1 1 2 2 0 2 1 0 1 0 1 0 1 0 0 1 1 0 1 0 2 1 0 1 0 0 0 1 0 0 1 2 0 2 0 2 0 0 1 0 2 0 0 1 1 0 0 1 1 0 1 0 1 0 0 1 11 107358831 G A A|splice_acceptor_variant&intron_variant|HIGH|WSCD2|ENSPANG00000016135|transcript|ENSPANT00000004044.1|protein_coding|6/13|c.1145-2G>A|||||| 1 1 1 1 0 0 1 1 1 1 1 1 2 0 1 2 1 0 0 0 1 1 1 1 0 0 1 0 1 0 1 1 0 2 0 1 1 0 2 2 1 0 0 0 1 0 0 1 1 0 0 2 1 0 0 1 1 2 1 0 0 1 0 0 0 0 2 0 0 2 0 1 1 0 0 1 0 2 0 2 1 1 0 1 0 2 2 1 0 1 1 1 0 1 0 0 2 1 1 1 11 107408558 G A A|stop_gained|HIGH|ENSPANG00000019702|ENSPANG00000019702|transcript|ENSPANT00000006173.1|protein_coding|4/6|c.457C>T|p.Gln153*|457/1059|457/1059|153/352||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 107409049 C T T|stop_gained|HIGH|ENSPANG00000019702|ENSPANG00000019702|transcript|ENSPANT00000006173.1|protein_coding|1/6|c.33G>A|p.Trp11*|33/1059|33/1059|11/352||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 11 107420683 C G G|splice_donor_variant&intron_variant|HIGH|CMKLR1|ENSPANG00000012188|transcript|ENSPANT00000006176.1|protein_coding|2/2|c.3+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 1 1 0 1 11 108397903 G T T|splice_acceptor_variant&intron_variant|HIGH|ACACB|ENSPANG00000016133|transcript|ENSPANT00000015324.1|protein_coding|43/53|c.6167-1G>T|||||| 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 1 2 2 2 1 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 11 108722506 A G G|start_lost|HIGH|MVK|ENSPANG00000005926|transcript|ENSPANT00000026097.1|protein_coding|1/9|c.1A>G|p.Met1?|280/1476|1/1197|1/398||,G|upstream_gene_variant|MODIFIER|MMAB|ENSPANG00000016450|transcript|ENSPANT00000026098.1|protein_coding||c.-2392T>C|||||2177|,G|downstream_gene_variant|MODIFIER|ENSPANG00000027754|ENSPANG00000027754|transcript|ENSPANT00000030465.1|lincRNA||n.*998A>G|||||998| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 108962041 T C C|splice_donor_variant&intron_variant|HIGH|TRPV4|ENSPANG00000019701|transcript|ENSPANT00000005592.2|protein_coding|3/16|c.432+1A>G||||||,C|intron_variant|MODIFIER|TRPV4|ENSPANG00000019701|transcript|ENSPANT00000011100.1|protein_coding|1/14|c.692+2106A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 108964836 C A A|start_lost|HIGH|TRPV4|ENSPANG00000019701|transcript|ENSPANT00000011100.1|protein_coding|1/15|c.3G>T|p.Met1?|3/2922|3/2922|1/973||,A|intron_variant|MODIFIER|TRPV4|ENSPANG00000019701|transcript|ENSPANT00000005592.2|protein_coding|1/16|c.-31-273G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 11 110913201 G T T|splice_acceptor_variant&intron_variant|HIGH|ACAD10|ENSPANG00000022857|transcript|ENSPANT00000009480.1|protein_coding|14/18|c.2348-1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 112391033 G A A|stop_gained|HIGH|RITA1|ENSPANG00000005344|transcript|ENSPANT00000015574.1|protein_coding|1/2|c.47G>A|p.Trp16*|47/951|47/951|16/316||,A|upstream_gene_variant|MODIFIER|DDX54|ENSPANG00000008883|transcript|ENSPANT00000000375.1|protein_coding||c.-1203C>T|||||1203| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 2 2 0 1 0 0 0 0 0 0 1 0 0 1 0 1 0 0 1 2 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 1 0 0 11 112587326 C T T|stop_gained|HIGH|PLBD2|ENSPANG00000005793|transcript|ENSPANT00000013361.1|protein_coding|12/12|c.1681C>T|p.Gln561*|1723/1812|1681/1770|561/589|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 11 117308256 G A A|stop_gained|HIGH|VSIG10|ENSPANG00000007337|transcript|ENSPANT00000000343.1|protein_coding|2/3|c.655C>T|p.Arg219*|655/1017|655/1017|219/338|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 119542060 G A A|splice_donor_variant&intron_variant|HIGH|SIRT4|ENSPANG00000010985|transcript|ENSPANT00000018862.1|protein_coding|1/4|c.-169+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 11 119978765 C T T|splice_acceptor_variant&intron_variant|HIGH|UNC119B|ENSPANG00000008707|transcript|ENSPANT00000014900.1|protein_coding|3/5|c.394-1C>T||||||,T|synonymous_variant|LOW|UNC119B|ENSPANG00000008707|transcript|ENSPANT00000006192.2|protein_coding|3/5|c.393C>T|p.Asp131Asp|457/820|393/756|131/251|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 11 120283607 G A A|stop_gained|HIGH|OASL|ENSPANG00000002378|transcript|ENSPANT00000020752.1|protein_coding|6/6|c.1303C>T|p.Gln435*|1635/4931|1303/1548|435/515||,A|upstream_gene_variant|MODIFIER|C12orf43|ENSPANG00000026351|transcript|ENSPANT00000020753.1|protein_coding||c.-3960C>T|||||3850| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 120408400 G A A|stop_gained|HIGH|ENSPANG00000024230|ENSPANG00000024230|transcript|ENSPANT00000026096.1|protein_coding|1/2|c.220C>T|p.Gln74*|220/858|220/858|74/285||,A|downstream_gene_variant|MODIFIER|SNORA70|ENSPANG00000003044|transcript|ENSPANT00000012159.1|snoRNA||n.*3423G>A|||||3423| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 120408619 T C C|start_lost|HIGH|ENSPANG00000024230|ENSPANG00000024230|transcript|ENSPANT00000026096.1|protein_coding|1/2|c.1A>G|p.Met1?|1/858|1/858|1/285||,C|downstream_gene_variant|MODIFIER|SNORA70|ENSPANG00000003044|transcript|ENSPANT00000012159.1|snoRNA||n.*3642T>C|||||3642| 0 0 1 1 0 0 0 1 1 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 1 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 11 122942014 T C C|stop_lost|HIGH|DDX55|ENSPANG00000007905|transcript|ENSPANT00000015339.1|protein_coding|18/18|c.1798T>C|p.Ter600Argext*?|1798/1888|1798/1800|600/599||,C|downstream_gene_variant|MODIFIER|SNORA9|ENSPANG00000012163|transcript|ENSPANT00000008307.1|snoRNA||n.*3326T>C|||||3326|,C|downstream_gene_variant|MODIFIER|EIF2B1|ENSPANG00000014998|transcript|ENSPANT00000015340.1|protein_coding||c.*1589A>G|||||1589| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 11 122954742 T C C|start_lost|HIGH|EIF2B1|ENSPANG00000014998|transcript|ENSPANT00000015340.1|protein_coding|1/9|c.1A>G|p.Met1?|1/1086|1/1086|1/361|| 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 1 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 11 124450499 G A A|splice_donor_variant&intron_variant|HIGH|AACS|ENSPANG00000017477|transcript|ENSPANT00000022538.1|protein_coding|9/20|c.955+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 2 1 0 1 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 11 131039410 G C C|splice_acceptor_variant&intron_variant|HIGH|ULK1|ENSPANG00000000375|transcript|ENSPANT00000014100.1|protein_coding|9/24|c.709-1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 11 131688767 G T T|splice_donor_variant&intron_variant|HIGH|P2RX2|ENSPANG00000005288|transcript|ENSPANT00000009806.1|protein_coding|8/11|c.798+2G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|POLE|ENSPANG00000014285|transcript|ENSPANT00000010883.1|protein_coding||c.*3994C>A|||||3994| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 11 131710116 A G G|splice_donor_variant&intron_variant|HIGH|POLE|ENSPANG00000014285|transcript|ENSPANT00000010883.1|protein_coding|35/45|c.4813+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 12 3550255 A G G|splice_donor_variant&intron_variant|HIGH|LRP1B|ENSPANG00000007101|transcript|ENSPANT00000014466.1|protein_coding|1/70|c.73+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 12 5352279 C T T|splice_donor_variant&intron_variant|HIGH|KYNU|ENSPANG00000019763|transcript|ENSPANT00000007196.2|protein_coding|15/16|c.1317+1C>T||||||,T|intron_variant|MODIFIER|KYNU|ENSPANG00000019763|transcript|ENSPANT00000008098.1|protein_coding|13/13|c.1272+683C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 12 6502602 T A A|stop_gained|HIGH|GTDC1|ENSPANG00000021875|transcript|ENSPANT00000013094.1|protein_coding|2/11|c.298A>T|p.Lys100*|298/1752|298/1752|100/583|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 8891305 C T T|stop_gained|HIGH|PET100|ENSPANG00000003757|transcript|ENSPANT00000001950.1|protein_coding|1/1|c.106C>T|p.Gln36*|106/219|106/219|36/72||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 12 9697925 C A A|stop_gained|HIGH|ENSPANG00000007142|ENSPANG00000007142|transcript|ENSPANT00000008097.1|protein_coding|2/3|c.625G>T|p.Glu209*|625/1248|625/1248|209/415||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 12 14609199 C G G|stop_gained|HIGH|ENSPANG00000011853|ENSPANG00000011853|transcript|ENSPANT00000001852.1|protein_coding|1/1|c.290C>G|p.Ser97*|290/999|290/999|97/332||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 2 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 12 14609300 C T T|stop_gained|HIGH|ENSPANG00000011853|ENSPANG00000011853|transcript|ENSPANT00000001852.1|protein_coding|1/1|c.391C>T|p.Gln131*|391/999|391/999|131/332||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 12 19949089 G A A|stop_gained|HIGH|ENSPANG00000009335|ENSPANG00000009335|transcript|ENSPANT00000001854.1|protein_coding|1/1|c.625C>T|p.Arg209*|625/771|625/771|209/256|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 12 19949161 G A A|stop_gained|HIGH|ENSPANG00000009335|ENSPANG00000009335|transcript|ENSPANT00000001854.1|protein_coding|1/1|c.553C>T|p.Arg185*|553/771|553/771|185/256|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 12 20257651 G A A|stop_gained|HIGH|CCDC148|ENSPANG00000009771|transcript|ENSPANT00000006925.2|protein_coding|2/19|c.25C>T|p.Arg9*|474/7098|25/1815|9/604||,A|stop_gained|HIGH|CCDC148|ENSPANG00000009771|transcript|ENSPANT00000006928.1|protein_coding|2/14|c.52C>T|p.Arg18*|474/6954|52/1698|18/565|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 12 21820706 C T T|stop_gained|HIGH|PLA2R1|ENSPANG00000017850|transcript|ENSPANT00000001622.1|protein_coding|17/30|c.2907G>A|p.Trp969*|3319/5295|2907/4851|969/1616|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 25039074 C T T|stop_gained|HIGH|ENSPANG00000005534|ENSPANG00000005534|transcript|ENSPANT00000020298.1|protein_coding|5/7|c.407G>A|p.Trp136*|407/708|407/708|136/235||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 27110136 C T T|splice_donor_variant&intron_variant|HIGH|SCN3A|ENSPANG00000010874|transcript|ENSPANT00000001633.2|protein_coding|3/31|c.205+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|SCN3A|ENSPANG00000010874|transcript|ENSPANT00000001637.1|protein_coding||c.-4325G>A|||||3755| 0 0 0 0 0 1 1 1 0 1 0 1 0 0 1 0 0 0 2 0 0 1 0 1 0 2 0 0 0 2 1 0 2 0 0 0 0 2 0 0 0 1 0 1 1 0 0 0 0 2 2 1 0 1 1 0 0 0 1 2 0 2 1 0 0 0 0 1 2 0 2 0 0 2 1 0 2 1 2 0 0 0 1 0 0 0 1 0 0 0 1 1 1 1 1 1 1 0 2 2 12 31918730 G A A|splice_acceptor_variant&intron_variant|HIGH|UBR3|ENSPANG00000005674|transcript|ENSPANT00000021922.1|protein_coding|30/44|c.3560-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 12 32116995 C T T|stop_gained|HIGH|MYO3B|ENSPANG00000005421|transcript|ENSPANT00000010502.1|protein_coding|1/32|c.7C>T|p.Gln3*|626/4390|7/3771|3/1256||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 1 1 1 0 1 0 1 0 1 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 2 1 0 0 1 1 0 0 2 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 1 0 1 0 1 0 1 0 1 0 0 1 1 1 0 0 1 1 0 0 1 0 1 0 1 0 0 0 1 1 1 12 36760681 G T T|stop_gained|HIGH|ENSPANG00000013746|ENSPANG00000013746|transcript|ENSPANT00000029170.1|protein_coding|1/1|c.31G>T|p.Glu11*|31/513|31/513|11/170||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CHN1|ENSPANG00000008236|transcript|ENSPANT00000008606.1|protein_coding|6/12|c.550-3140C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 2 0 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 0 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 12 39637727 T A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000029198|ENSPANG00000029198|transcript|ENSPANT00000030297.1|lincRNA|1/1|n.106+2T>A||||||,A|intron_variant|MODIFIER|PDE11A|ENSPANG00000025222|transcript|ENSPANT00000005477.1|protein_coding|10/19|c.1795-5060A>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 1 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 12 45953313 T C C|stop_lost&splice_region_variant|HIGH|ENSPANG00000000634|ENSPANG00000000634|transcript|ENSPANT00000021848.1|protein_coding|1/1|c.550T>C|p.Ter184Argext*?|550/552|550/552|184/183|| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 0 1 1 2 1 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 1 2 1 2 2 2 2 1 2 2 1 2 2 2 1 2 2 2 NA 1 2 1 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 12 46798170 A T T|stop_gained|HIGH|ZNF804A|ENSPANG00000025573|transcript|ENSPANT00000001038.2|protein_coding|4/4|c.3556A>T|p.Lys1186*|3556/4860|3556/3570|1186/1189||,T|downstream_gene_variant|MODIFIER|ZNF804A|ENSPANG00000025573|transcript|ENSPANT00000001039.1|protein_coding||c.*1A>T|||||1|WARNING_TRANSCRIPT_NO_STOP_CODON 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 12 51648113 G A A|stop_gained|HIGH|OSGEPL1|ENSPANG00000019726|transcript|ENSPANT00000020624.2|protein_coding|1/7|c.4C>T|p.Gln2*|4/1329|4/1302|2/433||,A|intron_variant|MODIFIER|OSGEPL1|ENSPANG00000019726|transcript|ENSPANT00000020625.1|protein_coding|1/7|c.85-138C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 54395750 G A A|stop_gained|HIGH|ENSPANG00000023286|ENSPANG00000023286|transcript|ENSPANT00000016767.1|protein_coding|1/2|c.478C>T|p.Gln160*|478/546|478/546|160/181||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 57597980 C A A|splice_donor_variant&intron_variant|HIGH|ANAPC15|ENSPANG00000013418|transcript|ENSPANT00000008145.1|protein_coding|1/1|c.318+1G>T||||||,A|intron_variant|MODIFIER|DNAH7|ENSPANG00000012148|transcript|ENSPANT00000022143.1|protein_coding|25/65|c.4092+2021G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 12 59082919 C A A|stop_gained|HIGH|MCEE|ENSPANG00000018465|transcript|ENSPANT00000003303.1|protein_coding|3/5|c.212C>A|p.Ser71*|212/525|212/525|71/174||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|SF3B1|ENSPANG00000013417|transcript|ENSPANT00000014050.1|protein_coding|6/24|c.666+3556G>T|||||| 0 0 0 1 0 0 0 0 1 0 0 NA 1 0 0 0 0 0 0 0 0 0 0 NA 0 1 0 0 NA 0 0 NA 0 0 0 NA 1 NA 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 NA 0 0 0 0 1 0 NA 0 NA NA 1 0 0 1 1 1 0 0 0 NA 0 0 0 0 0 0 0 0 1 NA 1 NA 0 0 0 0 0 1 0 0 0 0 0 1 0 0 12 62456067 G T T|stop_gained|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|8/39|c.646G>T|p.Glu216*|646/4005|646/4005|216/1334|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 1 1 0 0 0 0 0 0 0 12 62459456 T C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|11/38|c.969+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 12 62461498 A T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|14/38|c.1094-1A>T|||||| NA 0 0 NA 0 0 NA 0 NA NA 0 0 0 0 0 0 0 0 NA 0 NA NA 0 0 0 0 NA 0 NA 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 NA 0 0 0 0 0 NA 2 2 0 0 0 0 12 62469127 C T T|stop_gained|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|19/39|c.1594C>T|p.Arg532*|1594/4005|1594/4005|532/1334|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 12 62472626 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|22/38|c.1989+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 12 62487962 G T T|stop_gained|HIGH|ENSPANG00000024540|ENSPANG00000024540|transcript|ENSPANT00000019972.1|protein_coding|30/39|c.2923G>T|p.Glu975*|2923/4005|2923/4005|975/1334|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 2 1 0 1 1 0 1 0 1 0 1 1 1 0 0 1 0 0 1 2 1 0 1 1 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 2 0 0 1 0 2 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 2 12 62544808 G T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000016460|ENSPANG00000016460|transcript|ENSPANT00000028131.1|protein_coding|12/38|c.1169-1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 12 70902591 C T T|stop_gained|HIGH|ENSPANG00000022791|ENSPANG00000022791|transcript|ENSPANT00000028326.1|protein_coding|2/2|c.334C>T|p.Gln112*|334/879|334/879|112/292||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 12 72465255 G T T|splice_donor_variant&intron_variant|HIGH|CPS1|ENSPANG00000008478|transcript|ENSPANT00000021534.1|protein_coding|18/40|c.2029+1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 78738589 C T T|stop_gained|HIGH|ENSPANG00000024434|ENSPANG00000024434|transcript|ENSPANT00000008621.1|protein_coding|2/2|c.280C>T|p.Gln94*|280/288|280/288|94/95||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 80323989 G A A|splice_donor_variant&intron_variant|HIGH|VIL1|ENSPANG00000005751|transcript|ENSPANT00000009029.1|protein_coding|2/21|c.75+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 12 80602669 C T T|splice_acceptor_variant&intron_variant|HIGH|STK36|ENSPANG00000005415|transcript|ENSPANT00000026836.1|protein_coding|15/27|c.2044-1C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 81242412 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008759|ENSPANG00000008759|transcript|ENSPANT00000023918.1|protein_coding|3/3|c.344+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 81467708 G A A|stop_gained|HIGH|OBSL1|ENSPANG00000010198|transcript|ENSPANT00000002652.2|protein_coding|14/18|c.3913C>T|p.Arg1305*|3913/4821|3913/4821|1305/1606|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 84846773 G T T|splice_donor_variant&intron_variant|HIGH|ACSL3|ENSPANG00000009495|transcript|ENSPANT00000016088.2|protein_coding|14/15|c.1847+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|ACSL3|ENSPANG00000009495|transcript|ENSPANT00000016098.1|protein_coding|13/14|c.1784+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 12 85792138 T C C|splice_donor_variant&intron_variant|HIGH|WDFY1|ENSPANG00000017845|transcript|ENSPANT00000024958.1|protein_coding|5/11|c.485+1A>G|||||| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 NA 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 1 2 2 2 2 2 2 2 1 2 2 1 2 2 1 1 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 1 2 0 12 89172661 T G G|stop_lost|HIGH|COL4A3|ENSPANG00000016691|transcript|ENSPANT00000014824.2|protein_coding|52/52|c.5017T>G|p.Ter1673Gluext*?|5017/7844|5017/5019|1673/1672||,G|stop_lost|HIGH|COL4A3|ENSPANG00000016691|transcript|ENSPANT00000020868.1|protein_coding|52/52|c.5011T>G|p.Ter1671Gluext*?|5011/5060|5011/5013|1671/1670|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 0 1 1 0 0 0 1 0 0 0 1 1 0 2 2 0 1 0 0 0 1 0 1 0 2 0 1 0 0 1 0 1 0 1 1 0 0 0 0 1 0 0 1 0 0 2 0 0 1 1 0 0 0 0 0 1 2 0 0 0 0 1 1 0 0 0 0 2 0 0 0 0 0 2 0 0 12 92436141 G C C|stop_gained|HIGH|ENSPANG00000019496|ENSPANG00000019496|transcript|ENSPANT00000007868.1|protein_coding|2/6|c.245C>G|p.Ser82*|246/3829|245/780|82/259|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 12 94179101 C T T|stop_gained|HIGH|ENSPANG00000014470|ENSPANG00000014470|transcript|ENSPANT00000000261.1|protein_coding|1/11|c.34C>T|p.Gln12*|34/6511|34/1752|12/583||,T|intron_variant|MODIFIER|DIS3L2|ENSPANG00000019815|transcript|ENSPANT00000012529.1|protein_coding|13/14|c.1739+59113C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 94219274 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000008391|ENSPANG00000008391|transcript|ENSPANT00000000264.1|protein_coding|1/10|c.70+1G>A||||||,A|intron_variant|MODIFIER|DIS3L2|ENSPANG00000019815|transcript|ENSPANT00000012529.1|protein_coding|13/14|c.1740-34260G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 94219355 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000008391|ENSPANG00000008391|transcript|ENSPANT00000000264.1|protein_coding|1/10|c.71-1A>G||||||,G|intron_variant|MODIFIER|DIS3L2|ENSPANG00000019815|transcript|ENSPANT00000012529.1|protein_coding|13/14|c.1740-34179A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 94220253 C A A|stop_gained|HIGH|ENSPANG00000008391|ENSPANG00000008391|transcript|ENSPANT00000000264.1|protein_coding|5/11|c.609C>A|p.Cys203*|609/1599|609/1599|203/532||,A|intron_variant|MODIFIER|DIS3L2|ENSPANG00000019815|transcript|ENSPANT00000012529.1|protein_coding|13/14|c.1740-33281C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 1 0 1 0 0 1 1 0 0 1 1 0 0 1 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 12 94379683 T G G|splice_donor_variant&intron_variant|HIGH|EIF4E2|ENSPANG00000015728|transcript|ENSPANT00000005873.1|protein_coding|6/6|c.665+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 12 94945435 G A A|splice_acceptor_variant&intron_variant|HIGH|INPP5D|ENSPANG00000019973|transcript|ENSPANT00000007030.1|protein_coding|3/26|c.350-2G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 95010434 A G G|splice_donor_variant&intron_variant|HIGH|INPP5D|ENSPANG00000019973|transcript|ENSPANT00000007030.1|protein_coding|22/26|c.2409+2A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 1 1 1 1 1 1 0 0 1 1 1 1 2 0 2 0 2 1 0 1 0 0 0 1 0 0 1 0 0 1 0 1 0 0 1 0 1 1 2 0 0 0 0 0 1 0 0 0 2 0 0 0 1 0 1 2 0 1 0 0 2 1 0 2 2 2 1 0 1 0 0 0 1 0 0 0 1 1 1 1 0 1 1 2 0 2 2 12 95572010 T C C|stop_lost&splice_region_variant|HIGH|ENSPANG00000007061|ENSPANG00000007061|transcript|ENSPANT00000012491.1|protein_coding|3/3|c.1015T>C|p.Ter339Argext*?|1015/1017|1015/1017|339/338||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000013908.2|protein_coding|1/4|c.856-36203T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000009437.2|protein_coding|1/4|c.856-36203T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000014459.2|protein_coding|1/4|c.856-36203T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000020201.2|protein_coding|1/4|c.862-36203T>C|||||| 0 1 0 0 0 1 0 1 0 0 1 0 1 0 1 1 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 1 0 0 0 1 0 0 0 1 0 0 0 1 1 0 1 0 0 0 1 1 12 95581526 C T T|stop_gained|HIGH|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000025986.2|protein_coding|1/9|c.145C>T|p.Arg49*|145/1596|145/1596|49/531||,T|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000013908.2|protein_coding|1/4|c.856-26687C>T||||||,T|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000009437.2|protein_coding|1/4|c.856-26687C>T||||||,T|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000014459.2|protein_coding|1/4|c.856-26687C>T||||||,T|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000020201.2|protein_coding|1/4|c.862-26687C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 95582138 T C C|splice_donor_variant&intron_variant|HIGH|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000025986.2|protein_coding|4/8|c.748+2T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000013908.2|protein_coding|1/4|c.856-26075T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000009437.2|protein_coding|1/4|c.856-26075T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000014459.2|protein_coding|1/4|c.856-26075T>C||||||,C|intron_variant|MODIFIER|UGT1A10B|ENSPANG00000018059|transcript|ENSPANT00000020201.2|protein_coding|1/4|c.862-26075T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 2 0 0 1 12 98092187 G A A|stop_gained|HIGH|ENSPANG00000026087|ENSPANG00000026087|transcript|ENSPANT00000001586.1|protein_coding|2/3|c.293G>A|p.Trp98*|293/324|293/324|98/107||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|ASB18|ENSPANG00000005054|transcript|ENSPANT00000025603.1|protein_coding|1/4|c.205+4563C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 99057492 T C C|start_lost|HIGH|ENSPANG00000008511|ENSPANG00000008511|transcript|ENSPANT00000009743.1|protein_coding|1/3|c.2T>C|p.Met1?|2/177|2/177|1/58||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 99867653 G A A|stop_gained|HIGH|ENSPANG00000009632|ENSPANG00000009632|transcript|ENSPANT00000010128.1|protein_coding|1/1|c.583C>T|p.Arg195*|583/1290|583/1290|195/429||,A|upstream_gene_variant|MODIFIER|ENSPANG00000010926|ENSPANG00000010926|transcript|ENSPANT00000016512.1|miRNA||n.-205C>T|||||205|,A|intron_variant|MODIFIER|SCLY|ENSPANG00000000673|transcript|ENSPANT00000002698.1|protein_coding|2/11|c.202+2315G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 12 99867734 C A A|stop_gained|HIGH|ENSPANG00000009632|ENSPANG00000009632|transcript|ENSPANT00000010128.1|protein_coding|1/1|c.502G>T|p.Glu168*|502/1290|502/1290|168/429||,A|upstream_gene_variant|MODIFIER|ENSPANG00000010926|ENSPANG00000010926|transcript|ENSPANT00000016512.1|miRNA||n.-286G>T|||||286|,A|intron_variant|MODIFIER|SCLY|ENSPANG00000000673|transcript|ENSPANT00000002698.1|protein_coding|2/11|c.202+2396C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 99962659 C T T|stop_gained|HIGH|ERFE|ENSPANG00000007918|transcript|ENSPANT00000001690.1|protein_coding|8/11|c.739C>T|p.Gln247*|739/1062|739/1062|247/353||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000009909|ENSPANG00000009909|transcript|ENSPANT00000017089.1|protein_coding||c.-3384C>T|||||3384|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 12 103003207 C T T|stop_gained|HIGH|ANO7|ENSPANG00000014641|transcript|ENSPANT00000016195.2|protein_coding|19/24|c.2068C>T|p.Gln690*|2622/6167|2068/2976|690/991||,T|stop_gained|HIGH|ANO7|ENSPANG00000014641|transcript|ENSPANT00000016200.1|protein_coding|19/25|c.2071C>T|p.Gln691*|2625/3362|2071/2808|691/935|| 0 1 0 0 0 1 0 1 0 0 1 0 0 0 0 0 1 1 0 0 0 1 1 2 0 0 0 1 0 0 0 1 0 1 0 1 0 0 0 1 0 1 0 0 0 0 0 1 0 0 1 1 1 0 0 0 0 1 2 1 1 0 1 0 0 0 0 0 0 0 0 0 1 0 2 0 0 1 0 0 0 0 0 1 0 1 1 0 0 1 1 0 0 0 0 0 0 1 0 0 13 1598895 C G G|splice_acceptor_variant&intron_variant|HIGH|PXDN|ENSPANG00000011093|transcript|ENSPANT00000010097.1|protein_coding|10/22|c.1297-1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 2 1 1 1 0 0 0 2 1 0 0 0 0 1 0 1 0 0 0 1 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 1 0 1 0 0 1 0 0 0 1 13 3093957 C T T|stop_gained|HIGH|ALLC|ENSPANG00000017775|transcript|ENSPANT00000016606.1|protein_coding|5/12|c.322C>T|p.Arg108*|414/1325|322/1233|108/410|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 16738547 G A A|splice_donor_variant&intron_variant|HIGH|SMC6|ENSPANG00000018608|transcript|ENSPANT00000016026.1|protein_coding|22/26|c.2681+2C>T|||||| 0 2 1 1 0 1 0 1 0 1 1 1 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 1 1 0 0 2 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 1 13 22904701 C T T|splice_donor_variant&intron_variant|HIGH|ATAD2B|ENSPANG00000021884|transcript|ENSPANT00000017128.2|protein_coding|5/32|c.458+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 25213269 G A A|splice_donor_variant&intron_variant|HIGH|GAREM2|ENSPANG00000026153|transcript|ENSPANT00000021377.1|protein_coding|8/8|c.1893+1G>A||||||,A|downstream_gene_variant|MODIFIER|HADHA|ENSPANG00000019056|transcript|ENSPANT00000014612.1|protein_coding||c.*3690C>T|||||3690| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 13 26153758 C T T|stop_gained&splice_region_variant|HIGH|ABHD1|ENSPANG00000016566|transcript|ENSPANT00000017519.1|protein_coding|8/12|c.790C>T|p.Arg264*|790/5142|790/1215|264/404||,T|downstream_gene_variant|MODIFIER|PREB|ENSPANG00000009016|transcript|ENSPANT00000000147.1|protein_coding||c.*1470G>A|||||1470| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 28053127 C T T|stop_gained|HIGH|FAM179A|ENSPANG00000016919|transcript|ENSPANT00000021301.1|protein_coding|9/20|c.1210C>T|p.Arg404*|1210/3442|1210/3057|404/1018|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 13 28087343 T G G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|FAM179A|ENSPANG00000016919|transcript|ENSPANT00000021301.1|protein_coding|19/19|c.2958+2T>G|||||| 1 0 0 0 1 1 0 1 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 13 28099037 C T T|splice_acceptor_variant&intron_variant|HIGH|C2orf71|ENSPANG00000016918|transcript|ENSPANT00000006299.1|protein_coding|1/2|c.3690-2G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 13 36056927 A G G|splice_donor_variant&intron_variant|HIGH|HEATR5B|ENSPANG00000019359|transcript|ENSPANT00000003756.1|protein_coding|6/39|c.654+2T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 36359876 T C C|stop_lost|HIGH|QPCT|ENSPANG00000000775|transcript|ENSPANT00000024276.1|protein_coding|7/7|c.1084T>C|p.Ter362Glnext*?|1084/1515|1084/1086|362/361|| 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 1 1 0 1 13 37040271 T A A|stop_lost&splice_region_variant|HIGH|CYP1B1|ENSPANG00000021644|transcript|ENSPANT00000007322.1|protein_coding|3/3|c.1628A>T|p.Ter543Leuext*?|2184/2185|1628/1629|543/542|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 37717274 C T T|stop_gained|HIGH|GALM|ENSPANG00000017895|transcript|ENSPANT00000024657.1|protein_coding|7/7|c.1003C>T|p.Gln335*|1292/1297|1003/1008|335/335||,T|downstream_gene_variant|MODIFIER|SRSF7|ENSPANG00000018079|transcript|ENSPANT00000019979.1|protein_coding||c.*4003G>A|||||4003| 2 2 2 2 2 2 2 2 2 2 2 1 1 2 1 1 1 2 1 1 2 2 1 0 2 2 0 1 2 1 1 1 0 2 1 2 0 1 1 2 2 2 0 2 2 2 1 1 0 2 0 1 1 0 1 1 2 1 1 2 2 0 2 2 2 2 2 1 1 2 1 2 2 0 2 2 0 2 0 1 0 2 1 2 1 0 1 2 2 1 1 0 1 2 1 1 1 0 0 2 13 41751550 G A A|stop_gained|HIGH|OXER1|ENSPANG00000017325|transcript|ENSPANT00000008383.1|protein_coding|3/3|c.1162C>T|p.Gln388*|1162/1206|1162/1206|388/401||,A|downstream_gene_variant|MODIFIER|HAAO|ENSPANG00000010877|transcript|ENSPANT00000020770.1|protein_coding||c.*4202C>T|||||4202|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 13 46462520 C T T|stop_gained|HIGH|MSH2|ENSPANG00000016953|transcript|ENSPANT00000022917.1|protein_coding|15/15|c.2581C>T|p.Arg861*|2581/2624|2581/2601|861/866||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 13 68762061 G A A|stop_gained|HIGH|GMCL1|ENSPANG00000007995|transcript|ENSPANT00000007275.1|protein_coding|10/14|c.1080G>A|p.Trp360*|1080/1551|1080/1551|360/516|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 68869335 T C C|stop_lost&splice_region_variant|HIGH|ASPRV1|ENSPANG00000004410|transcript|ENSPANT00000022932.1|protein_coding|1/1|c.1032A>G|p.Ter344Trpext*?|1032/1032|1032/1032|344/343||WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 13 72201199 C A A|stop_gained|HIGH|FBXO41|ENSPANG00000004970|transcript|ENSPANT00000002865.1|protein_coding|5/13|c.1210G>T|p.Glu404*|1210/2631|1210/2631|404/876||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 13 72393018 G A A|splice_donor_variant&intron_variant|HIGH|ALMS1|ENSPANG00000014233|transcript|ENSPANT00000022743.1|protein_coding|9/26|c.4002+1G>A||||||,A|missense_variant|MODERATE|ALMS1|ENSPANG00000014233|transcript|ENSPANT00000024174.2|protein_coding|8/23|c.4051G>A|p.Val1351Ile|4128/12951|4051/12804|1351/4267|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 1 0 0 1 0 NA 0 0 0 NA 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 13 74579666 A T T|stop_lost|HIGH|MRPL19|ENSPANG00000024067|transcript|ENSPANT00000009799.1|protein_coding|6/7|c.882A>T|p.Ter294Cysext*?|882/5207|882/882|294/293|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 13 74595278 T A A|stop_gained|HIGH|GCFC2|ENSPANG00000004968|transcript|ENSPANT00000009804.1|protein_coding|20/20|c.2335A>T|p.Lys779*|2335/2346|2335/2346|779/781||,A|intron_variant|MODIFIER|MRPL19|ENSPANG00000024067|transcript|ENSPANT00000009799.1|protein_coding|6/6|c.*18-7394T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 74623086 G A A|stop_gained|HIGH|GCFC2|ENSPANG00000004968|transcript|ENSPANT00000009804.1|protein_coding|12/20|c.1327C>T|p.Gln443*|1327/2346|1327/2346|443/781|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 77794537 G A A|stop_gained|HIGH|REG3G|ENSPANG00000016173|transcript|ENSPANT00000019018.1|protein_coding|2/7|c.183G>A|p.Trp61*|183/525|183/525|61/174|| 1 0 0 2 2 1 1 1 2 2 1 0 1 1 1 2 2 1 0 1 1 1 1 1 0 0 1 2 0 0 1 1 0 1 1 2 2 0 2 1 0 1 1 1 0 1 1 0 0 2 1 1 0 0 0 0 0 0 2 2 1 0 1 2 1 2 0 2 0 1 0 1 0 1 2 0 0 0 0 1 0 1 2 0 0 1 1 0 1 0 0 1 1 1 0 1 0 0 0 1 13 77869492 C A A|stop_gained|HIGH|ENSPANG00000004076|ENSPANG00000004076|transcript|ENSPANT00000011029.1|protein_coding|1/4|c.117C>A|p.Cys39*|117/510|117/510|39/169||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 2 0 0 0 0 0 0 1 0 1 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 1 13 77869554 G A A|stop_gained|HIGH|ENSPANG00000004076|ENSPANG00000004076|transcript|ENSPANT00000011029.1|protein_coding|1/4|c.179G>A|p.Trp60*|179/510|179/510|60/169||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 13 77907720 G C C|stop_gained|HIGH|ENSPANG00000005676|ENSPANG00000005676|transcript|ENSPANT00000009660.1|protein_coding|4/4|c.440C>G|p.Ser147*|440/444|440/444|147/147||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 13 84139996 C T T|splice_acceptor_variant&intron_variant|HIGH|CAPG|ENSPANG00000000842|transcript|ENSPANT00000028987.1|protein_coding|9/9|c.982-1G>A||||||,T|downstream_gene_variant|MODIFIER|ELMOD3|ENSPANG00000024547|transcript|ENSPANT00000011040.1|protein_coding||c.*3413C>T|||||3413| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 84325607 C T T|stop_gained|HIGH|VAMP8|ENSPANG00000017285|transcript|ENSPANT00000005982.1|protein_coding|3/3|c.187C>T|p.Gln63*|287/714|187/303|63/100|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 84431374 G T T|stop_gained|HIGH|GNLY|ENSPANG00000022008|transcript|ENSPANT00000007887.1|protein_coding|2/5|c.88G>T|p.Glu30*|88/848|88/438|30/145|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 1 0 13 84783844 C T T|stop_gained|HIGH|POLR1A|ENSPANG00000025908|transcript|ENSPANT00000008560.2|protein_coding|34/39|c.4302G>A|p.Trp1434*|4616/5486|4302/5172|1434/1723||,T|intron_variant|MODIFIER|POLR1A|ENSPANG00000025908|transcript|ENSPANT00000026772.1|protein_coding|29/33|c.4273-257G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 87071836 A T T|stop_gained|HIGH|ENSPANG00000021007|ENSPANG00000021007|transcript|ENSPANT00000001563.1|protein_coding|2/2|c.347T>A|p.Leu116*|398/567|347/378|116/125|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 13 87137720 C A A|stop_gained|HIGH|ENSPANG00000007112|ENSPANG00000007112|transcript|ENSPANT00000007886.1|protein_coding|2/2|c.274G>T|p.Glu92*|301/589|274/378|92/125||,A|intron_variant|MODIFIER|ENSPANG00000005496|ENSPANG00000005496|transcript|ENSPANT00000019761.2|protein_coding|1/1|c.50-22873G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 0 1 1 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 13 87309683 T C C|start_lost|HIGH|ENSPANG00000005614|ENSPANG00000005614|transcript|ENSPANT00000011049.1|protein_coding|1/2|c.1A>G|p.Met1?|56/452|1/396|1/131||WARNING_TRANSCRIPT_NO_STOP_CODON,C|intron_variant|MODIFIER|ENSPANG00000018385|ENSPANG00000018385|transcript|ENSPANT00000011043.1|protein_coding|1/1|c.55+10400A>G|||||| 1 0 0 0 1 1 0 1 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 2 0 1 2 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 1 0 0 1 2 0 1 0 0 NA 0 1 1 0 0 1 0 0 1 0 2 1 1 2 0 2 1 0 1 0 0 1 1 1 1 0 1 0 0 0 0 0 2 0 0 1 1 1 2 0 13 87396386 G A A|stop_gained|HIGH|ENSPANG00000006885|ENSPANG00000006885|transcript|ENSPANT00000022904.1|protein_coding|2/2|c.415C>T|p.Gln139*|450/696|415/447|139/148|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 13 87421219 T A A|stop_gained|HIGH|ENSPANG00000009853|ENSPANG00000009853|transcript|ENSPANT00000019595.1|protein_coding|2/2|c.376A>T|p.Lys126*|432/443|376/387|126/128||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 1 1 1 1 NA 0 1 0 0 0 0 1 1 0 0 1 0 NA NA 1 NA 1 0 NA 0 1 NA 0 1 0 1 0 1 NA 0 0 0 NA 0 0 1 1 0 1 1 0 0 0 1 1 1 0 0 0 0 NA 1 1 0 1 NA 0 0 NA 1 NA 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 1 0 0 1 1 13 87545424 G C C|stop_gained|HIGH|ENSPANG00000014540|ENSPANG00000014540|transcript|ENSPANT00000019971.1|protein_coding|2/2|c.327C>G|p.Tyr109*|614/700|327/366|109/121|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 87565777 C T T|start_lost|HIGH|ENSPANG00000005613|ENSPANG00000005613|transcript|ENSPANT00000005701.1|protein_coding|1/4|c.3G>A|p.Met1?|3/432|3/432|1/143||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 1 2 1 1 1 1 1 1 1 0 1 1 1 2 2 1 1 0 1 1 1 0 2 0 2 0 2 2 0 1 0 1 0 1 2 0 0 0 1 2 0 1 2 0 0 1 1 1 2 0 1 1 2 1 2 1 0 2 2 1 2 1 1 1 1 2 1 2 1 1 2 0 0 2 1 2 0 1 1 0 0 0 1 1 1 1 2 0 0 1 1 2 1 1 1 1 2 13 87565778 A G G|start_lost|HIGH|ENSPANG00000005613|ENSPANG00000005613|transcript|ENSPANT00000005701.1|protein_coding|1/4|c.2T>C|p.Met1?|2/432|2/432|1/143||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 1 2 1 1 1 1 1 1 1 0 1 1 1 2 2 1 1 0 1 1 1 0 2 0 2 0 2 2 0 1 0 1 0 1 2 0 0 0 1 2 0 1 2 0 0 1 1 1 2 0 1 1 2 1 2 1 0 2 2 1 2 1 1 1 1 2 1 2 1 1 2 0 0 2 1 2 0 1 1 0 0 0 1 1 1 1 2 0 0 1 1 2 1 1 1 1 2 13 88274564 G A A|stop_gained|HIGH|ENSPANG00000022838|ENSPANG00000022838|transcript|ENSPANT00000028040.1|protein_coding|1/7|c.44G>A|p.Trp15*|44/1761|44/1761|15/586||,A|upstream_gene_variant|MODIFIER|TMEM127|ENSPANG00000017855|transcript|ENSPANT00000019350.1|protein_coding||c.-239C>T|||||239|WARNING_TRANSCRIPT_NO_START_CODON 0 1 1 0 2 1 1 2 0 1 2 0 2 0 1 1 0 0 0 0 1 1 0 1 0 0 1 0 0 1 1 0 0 0 0 0 0 0 2 2 0 2 0 1 1 1 2 1 1 0 0 0 1 0 0 0 0 0 1 0 1 0 0 1 1 0 0 1 0 2 1 1 0 0 2 0 0 2 0 2 1 1 0 1 0 1 2 1 1 0 1 2 0 1 0 0 0 1 1 1 13 88617806 G A A|stop_gained|HIGH|FER1L5|ENSPANG00000025369|transcript|ENSPANT00000014001.1|protein_coding|31/60|c.2487G>A|p.Trp829*|2607/6246|2487/6126|829/2041||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 88771272 T A A|stop_gained|HIGH|ANKRD23|ENSPANG00000025528|transcript|ENSPANT00000008052.2|protein_coding|4/10|c.184A>T|p.Arg62*|184/1303|184/921|62/306||,A|stop_gained|HIGH|ANKRD23|ENSPANG00000025528|transcript|ENSPANT00000016667.1|protein_coding|3/9|c.181A>T|p.Arg61*|181/1300|181/918|61/305|| 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 89685296 G A A|stop_gained|HIGH|ENSPANG00000008427|ENSPANG00000008427|transcript|ENSPANT00000010508.1|protein_coding|4/4|c.193C>T|p.Gln65*|193/222|193/222|65/73||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 93956806 G A A|start_lost|HIGH|SLC9A2|ENSPANG00000024442|transcript|ENSPANT00000009583.1|protein_coding|1/12|c.3G>A|p.Met1?|326/2762|3/2439|1/812|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 96399503 C T T|stop_gained|HIGH|MRPS9|ENSPANG00000012691|transcript|ENSPANT00000024458.1|protein_coding|6/17|c.262C>T|p.Gln88*|262/4412|262/1209|88/402|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 13 97387111 C T T|stop_gained|HIGH|C2orf40|ENSPANG00000008237|transcript|ENSPANT00000005664.1|protein_coding|3/4|c.241C>T|p.Gln81*|241/447|241/447|81/148|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 99411259 G T T|stop_gained|HIGH|SULT1C3|ENSPANG00000007106|transcript|ENSPANT00000007521.1|protein_coding|7/7|c.814G>T|p.Gly272*|814/918|814/918|272/305|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 99579915 A G G|start_lost|HIGH|PTMA|ENSPANG00000001029|transcript|ENSPANT00000015923.1|protein_coding|1/1|c.1A>G|p.Met1?|20/790|1/336|1/111|| 0 2 NA 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 13 99579917 G C C|start_lost|HIGH|PTMA|ENSPANG00000001029|transcript|ENSPANT00000015923.1|protein_coding|1/1|c.3G>C|p.Met1?|22/790|3/336|1/111|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 13 99580038 G T T|stop_gained|HIGH|PTMA|ENSPANG00000001029|transcript|ENSPANT00000015923.1|protein_coding|1/1|c.124G>T|p.Glu42*|143/790|124/336|42/111|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 13 99580053 C T T|stop_gained|HIGH|PTMA|ENSPANG00000001029|transcript|ENSPANT00000015923.1|protein_coding|1/1|c.139C>T|p.Gln47*|158/790|139/336|47/111|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 13 101429328 T C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000021723|ENSPANG00000021723|transcript|ENSPANT00000021077.1|protein_coding|13/19|c.1274-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 1 0 0 1 0 1 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 1 1 0 0 2 0 0 0 1 2 0 1 0 0 0 0 0 0 1 0 0 0 0 0 NA 1 0 0 0 1 0 13 101430284 A T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000021723|ENSPANG00000021723|transcript|ENSPANT00000021077.1|protein_coding|12/19|c.1265+1T>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 2 0 0 0 0 1 0 2 0 0 0 0 2 0 1 0 NA 0 0 0 NA 0 0 0 0 0 2 NA 0 0 NA 0 2 NA 0 0 2 0 0 0 NA 0 NA 2 1 2 0 0 0 0 NA NA 2 0 1 2 0 0 NA 0 2 0 0 0 0 NA 0 0 0 0 1 NA NA 0 0 0 2 NA 2 0 2 2 13 101430333 A T T|stop_gained|HIGH|ENSPANG00000021723|ENSPANG00000021723|transcript|ENSPANT00000021077.1|protein_coding|12/20|c.1217T>A|p.Leu406*|1217/1923|1217/1923|406/640||WARNING_TRANSCRIPT_NO_START_CODON 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 0 0 0 1 0 0 0 0 2 0 NA 0 NA 0 0 0 NA 0 0 0 0 0 2 NA 0 0 NA 0 0 NA 0 0 2 0 0 0 NA 0 NA 1 1 2 0 0 0 0 NA 0 1 0 1 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 1 NA NA 0 0 0 0 NA 2 0 0 0 13 101445801 C A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000021723|ENSPANG00000021723|transcript|ENSPANT00000021077.1|protein_coding|4/19|c.358+1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA NA NA 0 NA NA NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 NA 0 NA 0 0 0 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 NA NA 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 NA 0 13 103092851 G A A|splice_donor_variant&intron_variant|HIGH|ZC3H6|ENSPANG00000025224|transcript|ENSPANT00000010592.1|protein_coding|5/18|c.157+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 13 103639631 A G G|start_lost|HIGH|IL37|ENSPANG00000007702|transcript|ENSPANT00000013268.1|protein_coding|1/4|c.1A>G|p.Met1?|855/1829|1/603|1/200||,G|downstream_gene_variant|MODIFIER|ENSPANG00000027690|ENSPANG00000027690|transcript|ENSPANT00000029520.1|lincRNA||n.*3186T>C|||||3186| 1 0 0 1 0 0 1 0 1 1 0 0 1 1 1 1 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 1 1 0 0 2 0 0 2 1 2 0 0 1 1 0 0 1 0 0 0 1 1 0 1 0 1 0 2 1 0 0 2 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 1 0 1 0 0 2 1 1 0 0 1 1 0 0 0 13 103643027 C T T|stop_gained|HIGH|IL37|ENSPANG00000007702|transcript|ENSPANT00000013268.1|protein_coding|2/4|c.139C>T|p.Gln47*|993/1829|139/603|47/200||,T|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000027690|ENSPANG00000027690|transcript|ENSPANT00000029520.1|lincRNA|2/2|n.1191G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 13 103762593 G A A|stop_gained|HIGH|IL36B|ENSPANG00000009535|transcript|ENSPANT00000023753.1|protein_coding|2/4|c.121C>T|p.Arg41*|121/543|121/543|41/180||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 103931462 A G G|splice_acceptor_variant&intron_variant|HIGH|PSD4|ENSPANG00000025950|transcript|ENSPANT00000021996.1|protein_coding|14/17|c.2425-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 13 104355365 C A A|stop_gained|HIGH|ENSPANG00000018261|ENSPANG00000018261|transcript|ENSPANT00000005607.1|protein_coding|2/2|c.223G>T|p.Glu75*|223/396|223/396|75/131||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|ENSPANG00000019145|ENSPANG00000019145|transcript|ENSPANT00000023749.1|protein_coding||c.-4867G>T|||||4782|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 104355957 T C C|start_lost|HIGH|ENSPANG00000018261|ENSPANG00000018261|transcript|ENSPANT00000005607.1|protein_coding|1/2|c.1A>G|p.Met1?|1/396|1/396|1/131||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 13 104462820 T C C|stop_lost|HIGH|ENSPANG00000018262|ENSPANG00000018262|transcript|ENSPANT00000009238.1|protein_coding|2/2|c.376T>C|p.Ter126Glnext*?|608/1399|376/378|126/125|| NA 2 2 0 1 2 0 2 0 0 2 0 0 0 0 0 0 2 1 1 1 0 0 0 0 1 0 0 2 0 1 0 1 1 1 1 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 1 1 0 1 1 0 0 1 0 0 0 0 0 0 1 0 0 1 1 0 1 0 0 0 1 0 0 1 1 2 0 1 1 0 0 1 0 0 0 1 1 2 1 1 0 0 13 104524164 A G G|start_lost|HIGH|ENSPANG00000018264|ENSPANG00000018264|transcript|ENSPANT00000006803.1|protein_coding|1/2|c.1A>G|p.Met1?|59/478|1/420|1/139||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 2 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 13 104564044 A G G|start_lost|HIGH|ENSPANG00000019043|ENSPANG00000019043|transcript|ENSPANT00000016352.1|protein_coding|1/2|c.1A>G|p.Met1?|55/1690|1/462|1/153||,G|intron_variant|MODIFIER|ENSPANG00000007993|ENSPANG00000007993|transcript|ENSPANT00000023064.1|protein_coding|2/3|c.6-8211A>G|||||| 0 0 NA 0 0 NA 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 13 104644307 T G G|stop_gained|HIGH|ENSPANG00000018340|ENSPANG00000018340|transcript|ENSPANT00000010238.1|protein_coding|2/3|c.174T>G|p.Tyr58*|193/406|174/387|58/128||WARNING_TRANSCRIPT_NO_STOP_CODON,G|stop_gained|HIGH|ENSPANG00000018340|ENSPANG00000018340|transcript|ENSPANT00000005979.2|protein_coding|2/2|c.174T>G|p.Tyr58*|193/426|174/378|58/125||,G|intron_variant|MODIFIER|ENSPANG00000007993|ENSPANG00000007993|transcript|ENSPANT00000023064.1|protein_coding|3/3|c.50-17756T>G|||||| 1 0 0 2 0 0 2 0 2 2 0 2 2 2 2 1 2 NA 1 0 2 1 2 1 2 0 2 2 1 0 1 NA 0 1 2 2 NA 0 2 2 2 2 2 1 2 2 1 2 0 2 1 1 2 0 0 0 2 0 2 NA 2 NA 2 2 2 2 NA 2 0 2 0 0 1 0 2 2 2 2 0 2 1 2 NA 0 2 0 1 2 2 1 2 2 2 0 0 0 1 1 1 0 13 104735509 G A A|stop_gained|HIGH|ENSPANG00000018926|ENSPANG00000018926|transcript|ENSPANT00000008149.1|protein_coding|1/2|c.30G>A|p.Trp10*|194/1509|30/492|10/163|| 1 0 1 NA 0 NA 0 0 0 0 0 0 1 0 1 1 0 1 0 0 1 1 1 2 0 2 0 1 1 2 0 0 0 2 1 0 NA 0 1 NA NA 0 0 NA 1 1 0 1 1 1 2 1 1 1 0 0 0 0 1 0 1 1 NA 0 0 1 0 0 2 1 2 0 0 2 0 NA 0 2 1 1 1 2 1 NA 1 0 1 0 1 0 1 1 1 0 2 1 0 1 1 0 13 104735912 C T T|stop_gained|HIGH|ENSPANG00000018926|ENSPANG00000018926|transcript|ENSPANT00000008149.1|protein_coding|2/2|c.319C>T|p.Gln107*|483/1509|319/492|107/163|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 104736047 C T T|stop_gained|HIGH|ENSPANG00000018926|ENSPANG00000018926|transcript|ENSPANT00000008149.1|protein_coding|2/2|c.454C>T|p.Gln152*|618/1509|454/492|152/163|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 104769778 C T T|stop_gained|HIGH|ENSPANG00000025949|ENSPANG00000025949|transcript|ENSPANT00000010235.2|protein_coding|2/2|c.175C>T|p.Gln59*|301/542|175/414|59/137||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|ENSPANG00000005063|ENSPANG00000005063|transcript|ENSPANT00000006261.1|protein_coding|1/1|c.49+14435C>T||||||,T|intron_variant|MODIFIER|ENSPANG00000025949|ENSPANG00000025949|transcript|ENSPANT00000021670.1|protein_coding|1/1|c.55+244C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 104903752 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025949|ENSPANG00000025949|transcript|ENSPANT00000021670.1|protein_coding|1/1|c.56-1G>A||||||,A|intron_variant|MODIFIER|ENSPANG00000021180|ENSPANG00000021180|transcript|ENSPANT00000028652.1|protein_coding|1/1|c.50-32364G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 13 104903871 T A A|stop_gained|HIGH|ENSPANG00000025949|ENSPANG00000025949|transcript|ENSPANT00000021670.1|protein_coding|2/2|c.174T>A|p.Tyr58*|300/1424|174/378|58/125||,A|intron_variant|MODIFIER|ENSPANG00000021180|ENSPANG00000021180|transcript|ENSPANT00000028652.1|protein_coding|1/1|c.50-32245T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 1 1 0 0 0 1 0 0 0 0 0 1 0 0 1 1 1 1 0 0 0 NA 0 2 0 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 1 0 0 1 0 0 1 1 0 1 0 13 104904024 C A A|stop_gained|HIGH|ENSPANG00000025949|ENSPANG00000025949|transcript|ENSPANT00000021670.1|protein_coding|2/2|c.327C>A|p.Tyr109*|453/1424|327/378|109/125||,A|intron_variant|MODIFIER|ENSPANG00000021180|ENSPANG00000021180|transcript|ENSPANT00000028652.1|protein_coding|1/1|c.50-32092C>A|||||| 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 NA 0 13 106835511 G A A|stop_gained|HIGH|ENSPANG00000020406|ENSPANG00000020406|transcript|ENSPANT00000019973.1|protein_coding|4/6|c.942G>A|p.Trp314*|942/1215|942/1215|314/404||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 1 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 13 106835773 A T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000020406|ENSPANG00000020406|transcript|ENSPANT00000019973.1|protein_coding|5/5|c.1122-1A>T||||||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 1 1 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 13 106835853 G T T|stop_gained|HIGH|ENSPANG00000020406|ENSPANG00000020406|transcript|ENSPANT00000019973.1|protein_coding|6/6|c.1201G>T|p.Gly401*|1201/1215|1201/1215|401/404||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 107770029 G A A|stop_gained|HIGH|ZRANB3|ENSPANG00000007838|transcript|ENSPANT00000022243.1|protein_coding|6/16|c.768G>A|p.Trp256*|768/2637|768/2637|256/878|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 114938784 G A A|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000012628.1|protein_coding|6/14|c.850-1G>A||||||,A|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000008147.2|protein_coding|9/17|c.817-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 13 114941848 C T T|stop_gained|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000012628.1|protein_coding|10/15|c.1267C>T|p.Arg423*|1465/2208|1267/2010|423/669||,T|stop_gained|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000008147.2|protein_coding|13/18|c.1234C>T|p.Arg412*|1432/2175|1234/1977|412/658|| 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 NA 0 NA NA NA 0 0 NA 0 0 0 NA 0 0 0 NA NA 0 0 0 NA 0 0 NA NA 0 0 0 0 0 0 13 114941904 T A A|stop_gained|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000012628.1|protein_coding|10/15|c.1323T>A|p.Tyr441*|1521/2208|1323/2010|441/669||,A|stop_gained|HIGH|DDX18|ENSPANG00000019899|transcript|ENSPANT00000008147.2|protein_coding|13/18|c.1290T>A|p.Tyr430*|1488/2175|1290/1977|430/658|| 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 NA 0 0 0 NA 0 0 0 NA 0 NA NA NA 0 0 NA 0 0 0 0 0 0 0 NA NA 0 0 0 NA 0 0 NA NA 0 0 0 0 0 0 13 118861073 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000009239|ENSPANG00000009239|transcript|ENSPANT00000002586.1|protein_coding|3/3|c.333+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13 123881596 G T T|start_lost|HIGH|GYPC|ENSPANG00000000867|transcript|ENSPANT00000005721.1|protein_coding|1/4|c.3G>T|p.Leu1?|3/360|3/360|1/119|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 2 0 0 0 2 1 0 0 0 1 1 0 1 0 0 0 1 0 0 0 1 1 1 0 0 0 1 0 0 0 1 0 2 0 0 0 2 1 0 1 0 1 0 2 0 1 0 0 1 1 0 1 0 1 0 0 0 1 0 0 1 0 0 0 1 0 0 1 0 0 2 1 0 1 0 14 155554 G A A|stop_gained|HIGH|IFITM1|ENSPANG00000005287|transcript|ENSPANT00000008924.1|protein_coding|1/2|c.46C>T|p.Gln16*|46/435|46/435|16/144||WARNING_TRANSCRIPT_NO_START_CODON 2 1 1 1 2 2 2 2 2 1 2 0 2 2 2 2 1 2 1 2 2 2 1 0 1 0 2 2 1 1 2 2 0 2 2 1 1 1 2 2 2 2 1 1 2 2 2 1 1 1 1 1 1 0 1 2 2 2 2 2 2 NA 2 2 2 1 2 2 2 2 0 2 0 1 2 1 1 1 0 2 1 2 1 2 2 2 1 2 1 2 2 2 1 1 1 1 2 2 1 2 14 222615 G A A|splice_donor_variant&intron_variant|HIGH|B4GALNT4|ENSPANG00000007474|transcript|ENSPANT00000016029.1|protein_coding|15/21|c.1337+2G>A||||||,A|missense_variant|MODERATE|B4GALNT4|ENSPANG00000007474|transcript|ENSPANT00000006696.2|protein_coding|14/20|c.1372G>A|p.Gly458Ser|1409/3594|1372/3117|458/1038|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 14 249107 C T T|splice_donor_variant&intron_variant|HIGH|SIGIRR|ENSPANG00000011531|transcript|ENSPANT00000021523.1|protein_coding|8/8|c.1072+1G>A||||||,T|downstream_gene_variant|MODIFIER|PKP3|ENSPANG00000016427|transcript|ENSPANT00000006017.1|protein_coding||c.*1742C>T|||||1742| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 14 752166 C T T|splice_donor_variant&intron_variant|HIGH|CHID1|ENSPANG00000018814|transcript|ENSPANT00000021519.1|protein_coding|1/12|c.-44+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 868997 G A A|stop_gained|HIGH|ENSPANG00000020296|ENSPANG00000020296|transcript|ENSPANT00000006016.1|protein_coding|32/32|c.11497C>T|p.Gln3833*|11497/13707|11497/13707|3833/4568||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 NA 0 0 0 NA 0 0 NA 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 NA 0 0 0 0 0 NA 0 NA NA 0 0 0 14 1307225 C T T|splice_donor_variant&intron_variant|HIGH|DUSP8|ENSPANG00000022957|transcript|ENSPANT00000014689.1|protein_coding|4/6|c.787+2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 2 0 0 1 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 3074314 G A A|splice_donor_variant&intron_variant|HIGH|NADSYN1|ENSPANG00000011530|transcript|ENSPANT00000022440.1|protein_coding|6/20|c.459+2C>T||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000013075|ENSPANG00000013075|transcript|ENSPANT00000003970.1|miRNA||n.-988C>T|||||988| 1 0 1 0 1 1 0 0 0 0 1 0 1 2 0 0 0 0 0 1 1 0 1 0 0 0 1 2 1 0 0 0 0 1 1 1 1 0 1 2 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 1 0 0 0 2 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 1 1 1 0 0 0 1 1 0 0 0 0 14 4186511 G A A|stop_gained|HIGH|FADD|ENSPANG00000023465|transcript|ENSPANT00000024817.1|protein_coding|1/2|c.91C>T|p.Arg31*|860/1603|91/834|31/277|| 0 0 0 0 0 0 0 0 0 0 0 0 2 2 2 2 1 1 0 0 1 1 0 0 0 0 1 1 1 0 1 0 0 0 2 1 1 1 2 2 2 2 0 0 0 2 2 1 1 0 0 1 1 1 0 0 0 1 0 0 1 0 0 1 1 0 1 0 0 1 0 1 1 1 2 0 0 1 0 2 1 1 0 0 0 1 1 0 1 2 1 2 0 0 0 0 0 2 0 1 14 6427105 G A A|splice_acceptor_variant&intron_variant|HIGH|ALDH3B2|ENSPANG00000011529|transcript|ENSPANT00000009500.1|protein_coding|6/9|c.686-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 6468515 C G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000008595|ENSPANG00000008595|transcript|ENSPANT00000016215.1|protein_coding|1/9|c.248-1C>G||||||,G|downstream_gene_variant|MODIFIER|NUDT8|ENSPANG00000009837|transcript|ENSPANT00000001421.1|protein_coding||c.*3833C>G|||||3636|,G|downstream_gene_variant|MODIFIER|NDUFV1|ENSPANG00000011236|transcript|ENSPANT00000018204.1|protein_coding||c.*3403G>C|||||3403| 1 2 1 2 1 1 2 2 2 2 1 2 0 2 1 0 1 1 1 2 1 2 1 0 2 1 1 1 2 1 2 2 1 2 2 2 1 2 0 0 2 2 2 2 2 2 2 2 1 2 2 2 1 1 2 2 2 2 2 1 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 0 1 2 2 2 2 2 2 2 2 2 2 0 1 2 1 1 2 2 1 2 14 6621298 A G G|splice_acceptor_variant&intron_variant|HIGH|TMEM134|ENSPANG00000007007|transcript|ENSPANT00000009514.1|protein_coding|1/6|c.175-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 14 6639211 A G G|splice_acceptor_variant&intron_variant|HIGH|GPR152|ENSPANG00000012974|transcript|ENSPANT00000009518.1|protein_coding|1/1|c.1205-2A>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|CABP4|ENSPANG00000011704|transcript|ENSPANT00000009515.1|protein_coding||c.-4455T>C|||||4455|WARNING_TRANSCRIPT_NO_STOP_CODON 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 2 2 2 2 2 2 2 1 2 2 14 8337758 C T T|splice_donor_variant&intron_variant|HIGH|AP5B1|ENSPANG00000005284|transcript|ENSPANT00000026326.2|protein_coding|2/2|c.484+2C>T||||||,T|synonymous_variant|LOW|AP5B1|ENSPANG00000005284|transcript|ENSPANT00000026328.1|protein_coding|2/2|c.486C>T|p.Pro162Pro|841/2992|486/2637|162/878|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 9350513 G T T|stop_gained|HIGH|RASGRP2|ENSPANG00000010911|transcript|ENSPANT00000021611.2|protein_coding|3/16|c.214G>T|p.Glu72*|513/2759|214/1860|72/619||,T|downstream_gene_variant|MODIFIER|PYGM|ENSPANG00000011408|transcript|ENSPANT00000003442.2|protein_coding||c.*4718G>T|||||4718|,T|downstream_gene_variant|MODIFIER|PYGM|ENSPANG00000011408|transcript|ENSPANT00000009840.1|protein_coding||c.*4718G>T|||||4718|,T|intron_variant|MODIFIER|RASGRP2|ENSPANG00000010911|transcript|ENSPANT00000009699.1|protein_coding|3/16|c.176+38G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 10103737 C T T|stop_gained|HIGH|ENSPANG00000005378|ENSPANG00000005378|transcript|ENSPANT00000028365.1|protein_coding|1/2|c.29G>A|p.Trp10*|29/3334|29/1485|10/494||,T|downstream_gene_variant|MODIFIER|MACROD1|ENSPANG00000005925|transcript|ENSPANT00000008696.1|protein_coding||c.*1825C>T|||||1825|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 14 11065880 C A A|stop_gained|HIGH|ENSPANG00000004470|ENSPANG00000004470|transcript|ENSPANT00000004445.1|protein_coding|2/6|c.50C>A|p.Ser17*|254/2339|50/648|17/215||,A|upstream_gene_variant|MODIFIER|UQCC3|ENSPANG00000002368|transcript|ENSPANT00000004442.1|protein_coding||c.-2010G>T|||||2010|,A|downstream_gene_variant|MODIFIER|METTL12|ENSPANG00000013481|transcript|ENSPANT00000004449.1|protein_coding||c.*2620G>T|||||1331|,A|downstream_gene_variant|MODIFIER|SNORA57|ENSPANG00000025289|transcript|ENSPANT00000021052.1|snoRNA||n.*4092G>T|||||4092| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 14 11315990 T C C|start_lost|HIGH|SCGB1A1|ENSPANG00000019204|transcript|ENSPANT00000010089.1|protein_coding|1/3|c.1A>G|p.Met1?|1/243|1/243|1/80||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 2 0 2 0 0 0 2 0 0 2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 2 0 0 1 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 14 11579866 A G G|splice_donor_variant&intron_variant|HIGH|INCENP|ENSPANG00000016661|transcript|ENSPANT00000004424.1|protein_coding|16/19|c.2173+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 11579961 T C C|splice_acceptor_variant&intron_variant|HIGH|INCENP|ENSPANG00000016661|transcript|ENSPANT00000004424.1|protein_coding|15/19|c.2082-2A>G|||||| 0 1 1 1 0 0 1 0 1 1 0 2 2 0 2 2 0 0 1 1 1 1 1 2 2 1 1 0 1 0 0 1 1 0 1 1 0 0 2 2 0 0 0 2 2 0 0 2 0 1 1 0 2 1 1 0 1 0 1 1 0 2 1 0 0 0 0 0 1 1 1 0 0 0 0 1 1 1 0 2 0 0 1 0 0 1 1 0 0 0 1 2 1 1 1 1 0 1 1 0 14 11812205 C T T|stop_gained|HIGH|FADS3|ENSPANG00000016422|transcript|ENSPANT00000017546.2|protein_coding|5/6|c.595C>T|p.Arg199*|714/851|595/732|199/243||WARNING_TRANSCRIPT_NO_STOP_CODON,T|synonymous_variant|LOW|FADS3|ENSPANG00000016422|transcript|ENSPANT00000005638.2|protein_coding|10/11|c.1155C>T|p.Ile385Ile|1274/1412|1155/1293|385/430||,T|synonymous_variant|LOW|FADS3|ENSPANG00000016422|transcript|ENSPANT00000008756.2|protein_coding|9/10|c.954C>T|p.Ile318Ile|1073/1211|954/1092|318/363||,T|synonymous_variant|LOW|FADS3|ENSPANG00000016422|transcript|ENSPANT00000018780.1|protein_coding|10/11|c.1140C>T|p.Ile380Ile|1259/1397|1140/1278|380/425||,T|synonymous_variant|LOW|FADS3|ENSPANG00000016422|transcript|ENSPANT00000010261.2|protein_coding|10/12|c.720C>T|p.Ile240Ile|1271/1415|720/864|240/287||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|FADS3|ENSPANG00000016422|transcript|ENSPANT00000006377.2|protein_coding|8/8|c.933-143C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 1 1 1 0 0 0 2 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 2 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 1 14 12848663 A G G|splice_acceptor_variant&intron_variant|HIGH|ZP1|ENSPANG00000024909|transcript|ENSPANT00000014085.1|protein_coding|3/11|c.683-2T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 13350139 T C C|start_lost|HIGH|ENSPANG00000010273|ENSPANG00000010273|transcript|ENSPANT00000007086.1|protein_coding|1/7|c.1A>G|p.Met1?|682/2156|1/816|1/271|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 13967302 G A A|stop_gained|HIGH|OR4D11|ENSPANG00000016812|transcript|ENSPANT00000018799.1|protein_coding|1/1|c.874C>T|p.Gln292*|874/936|874/936|292/311|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 13978535 G C C|stop_gained|HIGH|OR4D10|ENSPANG00000007881|transcript|ENSPANT00000020493.1|protein_coding|1/1|c.884C>G|p.Ser295*|884/903|884/903|295/300||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 1 0 0 1 0 1 1 0 0 1 0 1 0 0 1 0 1 1 1 1 2 1 2 2 0 0 2 1 1 0 1 0 1 1 1 1 2 0 2 0 1 0 1 2 2 0 1 1 1 2 2 0 0 0 1 0 1 1 2 1 1 1 0 0 0 1 2 1 1 0 2 2 0 0 1 1 1 0 0 1 1 0 2 1 2 1 1 1 0 1 0 1 0 1 1 0 1 14 14222415 C T T|stop_gained|HIGH|MPEG1|ENSPANG00000004504|transcript|ENSPANT00000027984.1|protein_coding|1/1|c.679C>T|p.Gln227*|679/2151|679/2151|227/716||,T|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000000162|transcript|ENSPANT00000013463.1|misc_RNA||n.*2220C>T|||||2220| 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 14 14281915 C T T|stop_gained|HIGH|FAM111A|ENSPANG00000010906|transcript|ENSPANT00000014719.1|protein_coding|3/3|c.1709G>A|p.Trp570*|1709/1770|1709/1770|570/589|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 14286395 C T T|splice_donor_variant&intron_variant|HIGH|FAM111A|ENSPANG00000010906|transcript|ENSPANT00000014719.1|protein_coding|1/2|c.81+1G>A||||||,T|upstream_gene_variant|MODIFIER|ENSPANG00000027843|ENSPANG00000027843|transcript|ENSPANT00000030524.1|lincRNA||n.-4660C>T|||||4660| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 14789922 C T T|stop_gained|HIGH|OR5B2|ENSPANG00000014068|transcript|ENSPANT00000016627.1|protein_coding|1/1|c.64C>T|p.Gln22*|64/927|64/927|22/308||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 14790369 G T T|stop_gained|HIGH|OR5B2|ENSPANG00000014068|transcript|ENSPANT00000016627.1|protein_coding|1/1|c.511G>T|p.Glu171*|511/927|511/927|171/308||WARNING_TRANSCRIPT_NO_STOP_CODON 1 1 1 2 0 1 2 0 2 2 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 1 0 0 0 1 0 1 2 0 1 0 0 0 0 1 0 1 0 0 2 1 0 0 0 0 1 0 1 0 0 0 0 1 0 0 2 1 1 1 0 0 0 0 0 1 2 1 0 2 1 0 2 1 1 0 1 1 0 1 0 1 1 1 14 14806806 C G G|stop_gained|HIGH|OR5B3|ENSPANG00000007879|transcript|ENSPANT00000026013.1|protein_coding|1/1|c.696C>G|p.Tyr232*|696/942|696/942|232/313||WARNING_TRANSCRIPT_NO_STOP_CODON 2 1 2 2 1 2 2 1 2 2 1 0 0 1 0 0 0 2 0 2 0 2 0 0 1 0 0 0 1 0 1 0 0 1 0 0 0 1 0 0 1 0 0 1 0 0 0 1 0 1 1 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 1 0 0 1 0 0 0 0 0 1 1 2 0 0 0 1 1 0 0 1 1 0 0 0 0 0 14 16028434 G A A|stop_gained|HIGH|OR5AK2|ENSPANG00000001981|transcript|ENSPANT00000000418.1|protein_coding|1/1|c.7C>T|p.Arg3*|7/927|7/927|3/308||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 14 16212913 G A A|stop_gained|HIGH|OR5AR1|ENSPANG00000008361|transcript|ENSPANT00000010032.1|protein_coding|1/1|c.316C>T|p.Gln106*|316/954|316/954|106/317||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 1 2 2 1 2 1 1 1 0 1 0 0 0 2 2 0 0 1 2 0 1 0 1 1 1 1 0 1 1 1 0 1 0 1 NA 1 2 0 1 0 0 1 2 2 1 1 0 0 0 0 2 0 1 1 2 0 0 0 1 1 0 1 1 0 2 0 1 1 1 0 0 1 0 1 2 2 1 0 2 0 0 1 0 2 1 0 2 14 16213106 G T T|stop_gained|HIGH|OR5AR1|ENSPANG00000008361|transcript|ENSPANT00000010032.1|protein_coding|1/1|c.123C>A|p.Tyr41*|123/954|123/954|41/317||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 16232180 C T T|stop_gained|HIGH|OR5AP2|ENSPANG00000019397|transcript|ENSPANT00000009596.1|protein_coding|1/1|c.937C>T|p.Gln313*|937/954|937/954|313/317||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 16390540 C A A|stop_gained|HIGH|OR8K1|ENSPANG00000002782|transcript|ENSPANT00000016415.1|protein_coding|1/1|c.598G>T|p.Glu200*|598/954|598/954|200/317||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 16643002 T C C|start_lost|HIGH|OR5D14|ENSPANG00000005263|transcript|ENSPANT00000016625.1|protein_coding|1/1|c.1A>G|p.Met1?|1/942|1/942|1/313||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 2 0 1 0 1 0 2 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 2 0 0 1 0 0 0 2 0 2 0 0 1 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 0 14 16662403 T A A|stop_gained|HIGH|ENSPANG00000014065|ENSPANG00000014065|transcript|ENSPANT00000003334.1|protein_coding|1/1|c.502A>T|p.Arg168*|502/927|502/927|168/308||WARNING_TRANSCRIPT_NO_START_CODON 1 0 1 0 1 1 0 1 0 0 1 1 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 1 1 0 0 1 1 1 0 1 1 0 0 0 1 1 0 0 1 1 1 0 0 1 0 0 0 0 1 1 0 1 1 0 1 0 1 0 1 1 1 1 0 0 0 0 0 1 1 0 1 1 0 0 0 0 1 0 1 0 0 1 1 1 1 0 1 0 0 1 0 0 1 1 14 16662495 C T T|stop_gained|HIGH|ENSPANG00000014065|ENSPANG00000014065|transcript|ENSPANT00000003334.1|protein_coding|1/1|c.410G>A|p.Trp137*|410/927|410/927|137/308||WARNING_TRANSCRIPT_NO_START_CODON 1 0 1 0 1 1 0 1 0 0 1 1 0 1 0 0 1 0 0 0 1 0 0 0 1 0 0 1 1 0 0 1 1 1 2 1 1 0 0 0 1 1 0 0 1 1 1 0 0 1 0 0 0 0 1 2 0 1 1 0 1 0 1 0 1 1 1 1 0 0 0 0 0 1 1 0 1 1 0 0 0 0 1 0 1 0 0 1 1 1 1 0 1 0 0 1 0 0 1 1 14 16707200 C A A|stop_gained|HIGH|OR4C11|ENSPANG00000019444|transcript|ENSPANT00000003812.1|protein_coding|1/1|c.617C>A|p.Ser206*|617/933|617/933|206/310||,A|intron_variant|MODIFIER|ENSPANG00000008177|ENSPANG00000008177|transcript|ENSPANT00000001138.1|protein_coding|1/1|c.669-13848G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|OR4A5|ENSPANG00000007980|transcript|ENSPANT00000001142.1|protein_coding|1/2|c.145-3650G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 16907534 A T T|start_lost|HIGH|OR4S1|ENSPANG00000023462|transcript|ENSPANT00000013786.1|protein_coding|1/1|c.2T>A|p.Met1?|2/927|2/927|1/308||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 19250882 C T T|stop_gained|HIGH|PHF21A|ENSPANG00000016889|transcript|ENSPANT00000010380.1|protein_coding|14/14|c.1531C>T|p.Arg511*|2235/2252|1531/1548|511/515|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 19267969 G A A|stop_gained|HIGH|LARGE2|ENSPANG00000016656|transcript|ENSPANT00000010383.1|protein_coding|14/14|c.2137C>T|p.Arg713*|2137/2145|2137/2145|713/714|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 14 19413938 G A A|stop_gained|HIGH|PCNP|ENSPANG00000009751|transcript|ENSPANT00000018024.1|protein_coding|1/1|c.490C>T|p.Arg164*|490/537|490/537|164/178|| 1 0 0 1 0 0 1 0 1 0 0 0 1 1 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 1 0 1 2 1 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 1 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 14 19543295 C A A|stop_gained|HIGH|CHST1|ENSPANG00000005033|transcript|ENSPANT00000003888.1|protein_coding|1/1|c.1232C>A|p.Ser411*|1232/1236|1232/1236|411/411|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 14 21246377 G A A|stop_gained|HIGH|ENSPANG00000016655|ENSPANG00000016655|transcript|ENSPANT00000021277.1|protein_coding|1/5|c.10C>T|p.Gln4*|10/1299|10/1299|4/432||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 23685597 G C C|stop_gained|HIGH|ENSPANG00000006846|ENSPANG00000006846|transcript|ENSPANT00000000388.1|protein_coding|1/1|c.111C>G|p.Tyr37*|111/429|111/429|37/142|| 1 2 2 2 2 2 1 2 1 2 2 2 0 2 1 0 0 2 1 2 0 2 2 2 1 2 0 1 1 2 1 1 2 1 2 2 1 2 0 0 1 1 2 1 1 1 1 2 0 1 1 2 1 1 1 0 1 0 1 0 0 1 1 1 1 2 0 2 2 0 2 0 0 2 NA 1 2 1 2 0 0 1 1 1 2 0 0 2 2 0 0 0 1 2 2 2 0 0 2 0 14 29021102 G T T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000003103|ENSPANG00000003103|transcript|ENSPANT00000025345.1|protein_coding|2/3|c.474+1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000009504|ENSPANG00000009504|transcript|ENSPANT00000020886.1|miRNA||n.-192G>T|||||192| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 14 29021409 C T T|stop_gained|HIGH|ENSPANG00000003103|ENSPANG00000003103|transcript|ENSPANT00000025345.1|protein_coding|4/4|c.766C>T|p.Gln256*|766/996|766/996|256/331||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ENSPANG00000009504|ENSPANG00000009504|transcript|ENSPANT00000020886.1|miRNA||n.*28C>T|||||28| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 1 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 29894668 G A A|splice_donor_variant&splice_region_variant&intron_variant|HIGH|PDHX|ENSPANG00000008468|transcript|ENSPANT00000009290.1|protein_coding|6/11|c.732+2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 33399629 A G G|stop_lost|HIGH|DNAJC24|ENSPANG00000017379|transcript|ENSPANT00000021432.1|protein_coding|5/5|c.463T>C|p.Ter155Argext*?|496/509|463/465|155/154|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 2 1 0 1 1 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 1 1 0 0 0 0 0 1 2 0 0 0 0 0 0 2 0 2 0 0 2 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 1 0 14 34551951 T A A|start_lost|HIGH|ENSPANG00000004835|ENSPANG00000004835|transcript|ENSPANT00000006219.1|protein_coding|1/1|c.2T>A|p.Met1?|2/543|2/543|1/180|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 37512707 G A A|splice_donor_variant&intron_variant|HIGH|CCDC34|ENSPANG00000026210|transcript|ENSPANT00000005929.1|protein_coding|4/11|c.590+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 46680455 C T T|stop_gained|HIGH|ENSPANG00000025709|ENSPANG00000025709|transcript|ENSPANT00000009614.1|protein_coding|3/3|c.340C>T|p.Arg114*|344/551|340/369|114/122||,T|downstream_gene_variant|MODIFIER|5S_rRNA|ENSPANG00000012238|transcript|ENSPANT00000005313.1|rRNA||n.*4346C>T|||||4346|,T|downstream_gene_variant|MODIFIER|5S_rRNA|ENSPANG00000027126|transcript|ENSPANT00000014997.1|rRNA||n.*2615C>T|||||2615| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 14 47617509 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000023356|ENSPANG00000023356|transcript|ENSPANT00000025006.1|protein_coding|2/2|c.724+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 49744456 G C C|stop_gained|HIGH|INSC|ENSPANG00000010410|transcript|ENSPANT00000008004.1|protein_coding|9/9|c.1227C>G|p.Tyr409*|1386/1663|1227/1242|409/413|| 2 2 2 1 2 1 1 1 1 1 2 1 0 0 0 0 1 1 0 0 0 0 1 0 0 2 0 0 1 2 1 1 2 0 0 0 0 1 0 1 0 0 1 0 2 0 0 2 0 1 0 1 1 2 2 0 1 0 0 0 0 2 0 1 0 0 0 0 2 1 2 0 0 2 0 1 2 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 1 1 2 1 2 0 2 1 14 49822285 A G G|start_lost|HIGH|INSC|ENSPANG00000010410|transcript|ENSPANT00000008004.1|protein_coding|2/9|c.2T>C|p.Met1?|161/1663|2/1242|1/413|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 50667417 G T T|splice_donor_variant&intron_variant|HIGH|RRAS2|ENSPANG00000009252|transcript|ENSPANT00000017140.1|protein_coding|3/5|c.299+1G>T|||||| NA NA NA 0 NA NA NA NA NA NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 14 56947906 C A A|stop_gained|HIGH|NLRP10|ENSPANG00000024374|transcript|ENSPANT00000003630.1|protein_coding|1/3|c.188C>A|p.Ser63*|188/1953|188/1953|63/650||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 1 0 1 1 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 1 14 56950538 C T T|stop_gained|HIGH|NLRP10|ENSPANG00000024374|transcript|ENSPANT00000003630.1|protein_coding|3/3|c.1252C>T|p.Gln418*|1252/1953|1252/1953|418/650||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 57249641 C T T|splice_acceptor_variant&intron_variant|HIGH|OLFML1|ENSPANG00000012055|transcript|ENSPANT00000008611.1|protein_coding|1/3|c.-1-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 14 58574538 G A A|splice_donor_variant&intron_variant|HIGH|APBB1|ENSPANG00000019479|transcript|ENSPANT00000015071.1|protein_coding|1/12|c.718+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 NA 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 14 58848922 G A A|stop_gained|HIGH|OR52B2|ENSPANG00000009338|transcript|ENSPANT00000028437.1|protein_coding|1/1|c.532C>T|p.Arg178*|532/963|532/963|178/320||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 14 59670035 G A A|stop_gained|HIGH|OR52B6|ENSPANG00000004512|transcript|ENSPANT00000006239.1|protein_coding|1/2|c.208C>T|p.Arg70*|208/1260|208/1260|70/419|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 59852107 G A A|stop_gained|HIGH|OR51J1|ENSPANG00000013250|transcript|ENSPANT00000000815.1|protein_coding|1/1|c.922C>T|p.Arg308*|922/954|922/954|308/317|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 NA 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 NA 0 1 1 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 14 59853006 G T T|stop_gained|HIGH|OR51J1|ENSPANG00000013250|transcript|ENSPANT00000000815.1|protein_coding|1/1|c.23C>A|p.Ser8*|23/954|23/954|8/317|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 14 59902296 C T T|stop_gained|HIGH|OR51M1|ENSPANG00000003760|transcript|ENSPANT00000000817.1|protein_coding|1/1|c.986G>A|p.Trp329*|986/993|986/993|329/330|| 1 2 2 0 1 1 1 0 0 0 1 1 1 2 0 0 1 0 0 1 0 1 0 2 0 0 0 1 2 0 1 0 0 0 1 0 1 0 0 1 1 2 0 1 1 1 2 0 0 0 0 0 1 0 0 1 1 1 0 2 1 0 1 1 2 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 1 0 2 0 1 2 2 1 1 0 0 0 1 0 0 1 1 0 0 14 59903187 A T T|stop_gained|HIGH|OR51M1|ENSPANG00000003760|transcript|ENSPANT00000000817.1|protein_coding|1/1|c.95T>A|p.Leu32*|95/993|95/993|32/330|| 1 0 0 1 1 0 0 1 1 1 1 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 1 14 59925190 T C C|stop_lost&splice_region_variant|HIGH|OR51B6|ENSPANG00000002748|transcript|ENSPANT00000005284.1|protein_coding|1/1|c.939A>G|p.Ter313Trpext*?|939/939|939/939|313/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 60039703 A G G|start_lost|HIGH|HBD|ENSPANG00000008373|transcript|ENSPANT00000011351.1|protein_coding|1/4|c.1A>G|p.Met1?|589/1863|1/441|1/146|| 1 0 0 1 0 1 2 1 1 1 0 1 1 0 1 2 1 0 2 1 1 1 2 1 1 0 2 1 1 2 1 2 2 1 0 0 0 1 2 2 1 2 2 2 1 2 1 2 1 1 2 1 2 2 2 1 1 1 1 1 2 2 2 2 2 2 2 2 1 1 2 2 1 2 2 1 2 1 2 2 0 0 1 1 2 1 0 1 1 1 2 2 0 1 1 2 1 0 0 1 14 60041167 A T T|stop_lost|HIGH|HBD|ENSPANG00000008373|transcript|ENSPANT00000011351.1|protein_coding|4/4|c.441A>T|p.Ter147Cysext*?|1029/1863|441/441|147/146|| 1 0 0 1 0 1 2 1 1 1 0 1 0 0 0 1 1 0 2 1 0 1 1 1 1 0 1 1 1 1 1 1 1 1 0 0 0 1 0 1 1 1 2 2 1 2 0 0 1 0 1 1 1 2 1 1 1 1 1 2 2 1 2 2 2 2 2 2 0 1 2 2 1 0 1 0 1 0 1 0 0 0 1 1 2 1 0 1 0 1 2 0 0 1 0 1 0 0 0 1 14 60072570 A G G|start_lost|HIGH|OR51V1|ENSPANG00000013249|transcript|ENSPANT00000016634.1|protein_coding|1/1|c.1A>G|p.Met1?|1/723|1/723|1/240|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 60333827 C T T|start_lost|HIGH|ENSPANG00000009337|ENSPANG00000009337|transcript|ENSPANT00000006414.1|protein_coding|1/1|c.3G>A|p.Met1?|3/942|3/942|1/313|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 14 60531715 C T T|stop_gained|HIGH|OR51S1|ENSPANG00000024275|transcript|ENSPANT00000021367.1|protein_coding|1/1|c.538C>T|p.Gln180*|538/972|538/972|180/323|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 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T|stop_gained|HIGH|ENSPANG00000019964|ENSPANG00000019964|transcript|ENSPANT00000006237.1|protein_coding|3/10|c.192G>A|p.Trp64*|192/5363|192/612|64/203||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 61950632 A G G|splice_donor_variant&intron_variant|HIGH|FOLR3|ENSPANG00000016288|transcript|ENSPANT00000008512.1|protein_coding|1/4|c.162+1A>G|||||| 1 0 0 1 0 1 2 1 1 1 0 0 0 1 0 1 1 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 1 0 1 2 1 0 0 0 0 0 1 0 0 0 0 1 1 1 2 0 0 0 0 2 0 2 1 2 0 0 0 0 0 0 1 1 0 0 1 0 0 0 0 1 0 1 0 0 0 1 0 0 0 1 0 1 0 0 0 2 14 61994433 C T T|stop_gained|HIGH|ENSPANG00000006124|ENSPANG00000006124|transcript|ENSPANT00000023041.1|protein_coding|1/2|c.586C>T|p.Arg196*|586/912|586/912|196/303|| 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 NA 0 0 NA 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 NA 0 NA 0 0 0 14 62627393 G T T|stop_gained|HIGH|ATG16L2|ENSPANG00000008372|transcript|ENSPANT00000012677.1|protein_coding|12/18|c.1231G>T|p.Glu411*|1231/1860|1231/1860|411/619|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 63218451 C A A|splice_donor_variant&intron_variant|HIGH|RELT|ENSPANG00000000123|transcript|ENSPANT00000018699.1|protein_coding|9/9|c.1063+1C>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 1 0 0 1 1 1 1 0 0 0 0 0 1 0 1 0 1 0 1 1 0 0 1 2 0 0 0 1 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 1 1 0 0 0 0 1 1 0 0 1 0 0 0 1 0 1 0 2 0 1 0 2 1 0 0 0 0 0 0 0 2 1 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 2 1 0 14 67984627 T C C|splice_donor_variant&intron_variant|HIGH|ALG8|ENSPANG00000014351|transcript|ENSPANT00000008195.1|protein_coding|4/12|c.478+1A>G|||||| 2 2 2 2 2 2 2 2 2 2 2 0 1 1 1 2 0 2 1 1 1 1 1 1 1 2 2 1 2 2 1 2 1 1 0 1 0 0 2 2 2 2 2 2 0 2 1 0 2 2 1 0 0 2 1 2 2 1 0 0 2 2 2 1 2 2 1 2 2 2 2 2 2 0 0 1 1 1 2 2 2 0 1 2 1 2 2 2 1 1 2 2 1 2 1 2 2 2 1 1 14 82777559 C T T|stop_gained|HIGH|ENSPANG00000018013|ENSPANG00000018013|transcript|ENSPANT00000028545.1|protein_coding|2/2|c.448C>T|p.Arg150*|1165/1806|448/1089|150/362||,T|intron_variant|MODIFIER|ENSPANG00000028402|ENSPANG00000028402|transcript|ENSPANT00000030662.1|lincRNA|1/1|n.488+3113G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 14 83175286 C G G|stop_gained|HIGH|DEUP1|ENSPANG00000010678|transcript|ENSPANT00000015541.1|protein_coding|10/14|c.1221C>G|p.Tyr407*|1221/1815|1221/1815|407/604||,G|intron_variant|MODIFIER|DEUP1|ENSPANG00000010678|transcript|ENSPANT00000012475.2|protein_coding|10/13|c.1240-503C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 1 0 0 1 1 0 0 1 1 0 0 0 2 0 0 0 0 0 0 1 0 0 0 2 0 0 0 1 1 1 0 0 1 0 0 1 0 2 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 1 1 0 0 1 14 83531446 T C C|stop_lost|HIGH|C11orf54|ENSPANG00000008370|transcript|ENSPANT00000021610.1|protein_coding|9/9|c.937T>C|p.Ter313Glnext*?|937/951|937/939|313/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 14 83825199 C G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000003602|ENSPANG00000003602|transcript|ENSPANT00000010579.1|protein_coding|3/3|c.481-1G>C||||||,G|intron_variant|MODIFIER|HEPHL1|ENSPANG00000019176|transcript|ENSPANT00000004238.1|protein_coding|2/19|c.416-8218C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 84794091 C A A|stop_gained|HIGH|KDM4E|ENSPANG00000013850|transcript|ENSPANT00000010038.1|protein_coding|1/1|c.1176C>A|p.Tyr392*|1176/1512|1176/1512|392/503||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 14 85753141 C T T|splice_donor_variant&intron_variant|HIGH|MAML2|ENSPANG00000004951|transcript|ENSPANT00000004144.1|protein_coding|11/14|c.1650+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|MAML2|ENSPANG00000004951|transcript|ENSPANT00000001411.2|protein_coding|1/3|c.1456-13117G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 94671023 G A A|stop_gained|HIGH|ENSPANG00000003972|ENSPANG00000003972|transcript|ENSPANT00000017403.1|protein_coding|9/9|c.1126C>T|p.Arg376*|1276/1371|1126/1221|376/406|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 14 94678239 G A A|stop_gained|HIGH|ENSPANG00000003972|ENSPANG00000003972|transcript|ENSPANT00000017403.1|protein_coding|2/9|c.163C>T|p.Arg55*|313/1371|163/1221|55/406|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 14 97481670 T A A|stop_gained|HIGH|NPAT|ENSPANG00000026022|transcript|ENSPANT00000013679.1|protein_coding|1/20|c.7A>T|p.Arg3*|7/4287|7/4287|3/1428|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 2 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 2 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 NA 0 0 0 1 1 0 0 1 0 0 2 0 14 97528894 T A A|stop_gained|HIGH|ATM|ENSPANG00000019174|transcript|ENSPANT00000013677.1|protein_coding|8/64|c.1026T>A|p.Tyr342*|1026/9177|1026/9177|342/3058|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 14 97773478 T C C|splice_acceptor_variant&intron_variant|HIGH|EXPH5|ENSPANG00000003385|transcript|ENSPANT00000005297.1|protein_coding|7/7|c.2595-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|EXPH5|ENSPANG00000003385|transcript|ENSPANT00000004313.2|protein_coding|6/6|c.2719A>G|p.Ser907Gly|2896/6279|2719/6102|907/2033|| 2 2 2 1 2 1 1 1 2 1 2 0 2 0 2 2 2 1 1 1 0 1 2 2 1 1 2 2 0 0 0 2 2 0 1 1 1 1 1 0 0 1 1 0 1 2 0 1 1 0 1 1 1 1 1 1 1 1 2 0 2 2 0 2 2 1 1 2 0 1 0 1 2 0 1 0 1 2 0 1 1 1 0 2 1 1 1 1 0 1 0 1 0 1 1 2 1 1 0 2 14 100515507 G A A|splice_acceptor_variant&intron_variant|HIGH|LINC00238|ENSPANG00000006499|transcript|ENSPANT00000020890.2|protein_coding|7/7|c.639-2G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|LINC00238|ENSPANG00000006499|transcript|ENSPANT00000025099.1|protein_coding|7/7|c.632-119G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 14 100914220 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000019173|ENSPANG00000019173|transcript|ENSPANT00000003069.1|protein_coding|3/4|c.424-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|BTG4|ENSPANG00000019269|transcript|ENSPANT00000003067.1|protein_coding|6/6|c.662+32836T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 2 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 14 103966680 G A A|stop_gained|HIGH|NXPE1|ENSPANG00000005599|transcript|ENSPANT00000015626.1|protein_coding|5/5|c.1372C>T|p.Arg458*|1372/1644|1372/1644|458/547||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 106115346 C T T|splice_acceptor_variant&intron_variant|HIGH|BUD13|ENSPANG00000014015|transcript|ENSPANT00000025734.2|protein_coding|3/9|c.180-1G>A||||||,T|missense_variant|MODERATE|BUD13|ENSPANG00000014015|transcript|ENSPANT00000027875.1|protein_coding|4/10|c.422G>A|p.Arg141Lys|1153/2588|422/1857|141/618|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 NA 1 1 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 NA 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 0 0 0 1 14 106563590 C T T|stop_gained|HIGH|PCSK7|ENSPANG00000000210|transcript|ENSPANT00000018453.1|protein_coding|14/17|c.1740G>A|p.Trp580*|2688/3312|1740/2364|580/787||,T|downstream_gene_variant|MODIFIER|TAGLN|ENSPANG00000002535|transcript|ENSPANT00000027893.1|protein_coding||c.*3677C>T|||||3677| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 1 0 1 1 0 1 0 0 0 1 0 0 1 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 1 1 0 1 0 1 0 0 0 0 0 1 1 1 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 1 0 0 0 NA 1 0 0 0 1 14 107173277 G A A|stop_gained|HIGH|ENSPANG00000011056|ENSPANG00000011056|transcript|ENSPANT00000015371.1|protein_coding|1/4|c.385C>T|p.Arg129*|385/1313|385/525|129/174|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 107445045 C T T|stop_gained|HIGH|TMPRSS4|ENSPANG00000004728|transcript|ENSPANT00000003140.1|protein_coding|3/11|c.208C>T|p.Arg70*|208/1932|208/1203|70/400||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 107676448 G A A|stop_gained|HIGH|CD3G|ENSPANG00000009879|transcript|ENSPANT00000000780.1|protein_coding|1/6|c.38G>A|p.Trp13*|38/633|38/633|13/210||,A|upstream_gene_variant|MODIFIER|CD3D|ENSPANG00000018996|transcript|ENSPANT00000005161.1|protein_coding||c.-2062C>T|||||2062| 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 107871319 G A A|stop_gained|HIGH|TMEM25|ENSPANG00000011053|transcript|ENSPANT00000015288.1|protein_coding|2/8|c.165G>A|p.Trp55*|165/1338|165/1338|55/445||,A|downstream_gene_variant|MODIFIER|TTC36|ENSPANG00000003100|transcript|ENSPANT00000023703.1|protein_coding||c.*690G>A|||||690| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 14 108685179 G A A|stop_gained|HIGH|RNF26|ENSPANG00000021114|transcript|ENSPANT00000012180.1|protein_coding|1/1|c.872G>A|p.Trp291*|872/1302|872/1302|291/433||,A|downstream_gene_variant|MODIFIER|C1QTNF5|ENSPANG00000003692|transcript|ENSPANT00000003195.1|protein_coding||c.*3341C>T|||||3341| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 14 113290666 C T T|stop_gained|HIGH|OR10D3|ENSPANG00000021113|transcript|ENSPANT00000015805.1|protein_coding|1/1|c.391C>T|p.Arg131*|391/936|391/936|131/311||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 113315775 C G G|stop_gained|HIGH|OR8G5|ENSPANG00000015366|transcript|ENSPANT00000013521.1|protein_coding|1/1|c.387C>G|p.Tyr129*|387/1041|387/1041|129/346|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 113654599 C T T|stop_gained|HIGH|PANX3|ENSPANG00000004846|transcript|ENSPANT00000002882.1|protein_coding|4/4|c.553C>T|p.Arg185*|553/1176|553/1176|185/391||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|TBRG1|ENSPANG00000012126|transcript|ENSPANT00000002883.1|protein_coding||c.-4713C>T|||||4465| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 113668328 C G G|stop_gained|HIGH|TBRG1|ENSPANG00000012126|transcript|ENSPANT00000002883.1|protein_coding|9/9|c.1152C>G|p.Tyr384*|1400/1484|1152/1236|384/411|| 1 1 1 1 1 1 1 1 0 0 2 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 14 115346254 T C C|start_lost|HIGH|DCPS|ENSPANG00000010632|transcript|ENSPANT00000007114.1|protein_coding|1/4|c.2T>C|p.Met1?|2/774|2/774|1/257|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 14 119308633 T A A|splice_acceptor_variant&intron_variant|HIGH|ADAMTS8|ENSPANG00000004946|transcript|ENSPANT00000018771.1|protein_coding|1/13|c.106-2A>T||||||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 1 0 0 1 1 0 0 1 0 1 1 1 1 0 0 0 0 1 0 1 2 0 1 1 0 0 2 1 1 1 0 0 0 1 1 1 2 1 0 1 0 0 0 0 NA 0 1 1 0 1 1 1 0 1 0 NA NA NA NA NA 0 0 NA 0 NA NA 0 2 0 NA NA 0 0 NA NA 1 2 NA 0 1 NA NA 0 0 NA NA NA 1 1 1 0 1 1 1 0 2 0 14 119430845 C T T|stop_gained|HIGH|ENSPANG00000023271|ENSPANG00000023271|transcript|ENSPANT00000020809.1|protein_coding|2/2|c.492G>A|p.Trp164*|492/618|492/618|164/205|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 14 119431241 G C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000023271|ENSPANG00000023271|transcript|ENSPANT00000020809.1|protein_coding|1/1|c.110+1C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 14 119431246 G A A|stop_gained|HIGH|ENSPANG00000023271|ENSPANG00000023271|transcript|ENSPANT00000020809.1|protein_coding|1/2|c.106C>T|p.Arg36*|106/618|106/618|36/205|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 14 119581764 G A A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000011405|ENSPANG00000011405|transcript|ENSPANT00000020808.1|protein_coding|2/2|c.268-1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 0 1 1 0 0 1 0 2 1 1 0 0 0 0 1 1 0 1 1 0 0 0 0 0 1 1 0 1 0 0 0 0 1 1 0 0 0 1 0 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 0 0 0 1 1 1 1 0 0 0 1 0 1 0 0 0 1 0 1 0 0 1 1 2 0 1 1 14 121514642 G A A|stop_gained|HIGH|OPCML|ENSPANG00000011046|transcript|ENSPANT00000009943.1|protein_coding|1/7|c.7C>T|p.Arg3*|7/1125|7/1125|3/374|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 2 0 14 123208719 C T T|stop_gained|HIGH|GLB1L2|ENSPANG00000023739|transcript|ENSPANT00000004722.1|protein_coding|5/19|c.460C>T|p.Gln154*|577/2028|460/1911|154/636|| 0 1 1 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 15 1840019 A T T|stop_gained|HIGH|PMPCA|ENSPANG00000026133|transcript|ENSPANT00000028659.1|protein_coding|10/13|c.1152T>A|p.Tyr384*|1196/1622|1152/1578|384/525|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA NA NA 0 0 0 0 0 NA 0 NA 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 2582009 T C C|start_lost|HIGH|SOHLH1|ENSPANG00000026106|transcript|ENSPANT00000028544.1|protein_coding|1/5|c.2T>C|p.Met1?|7/1008|2/798|1/265|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 15 2640424 C T T|stop_gained|HIGH|GLT6D1|ENSPANG00000026108|transcript|ENSPANT00000028568.1|protein_coding|2/4|c.94C>T|p.Arg32*|94/927|94/927|32/308|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 2736287 G A A|stop_gained&splice_region_variant|HIGH|ENSPANG00000026111|ENSPANG00000026111|transcript|ENSPANT00000028571.1|protein_coding|4/5|c.295C>T|p.Gln99*|676/870|295/489|99/162||,A|upstream_gene_variant|MODIFIER|ENSPANG00000027717|ENSPANG00000027717|transcript|ENSPANT00000029404.1|lincRNA||n.-616G>A|||||616|,A|upstream_gene_variant|MODIFIER|ENSPANG00000027717|ENSPANG00000027717|transcript|ENSPANT00000030902.1|lincRNA||n.-2425G>A|||||2425|,A|intron_variant|MODIFIER|ENSPANG00000027974|ENSPANG00000027974|transcript|ENSPANT00000029939.1|lincRNA|1/1|n.1106+87G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 15 3555590 G A A|stop_gained|HIGH|COL5A1|ENSPANG00000026101|transcript|ENSPANT00000028521.1|protein_coding|1/71|c.58C>T|p.Gln20*|58/5523|58/5523|20/1840|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 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0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 15 6468354 C T T|splice_donor_variant&intron_variant|HIGH|POMT1|ENSPANG00000025980|transcript|ENSPANT00000028426.1|protein_coding|3/21|c.195+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 1 2 2 1 0 1 1 0 0 1 1 1 1 0 0 0 1 1 2 2 0 0 1 1 1 1 0 0 0 1 0 0 1 0 0 0 1 1 1 0 0 0 1 0 1 0 0 1 0 1 0 0 0 1 0 1 0 1 1 0 0 2 0 0 0 0 1 0 2 0 2 1 0 1 1 0 1 0 1 0 0 0 1 2 0 0 0 1 0 0 0 1 1 1 1 0 1 0 1 1 15 6810930 G A A|stop_gained|HIGH|NUP214|ENSPANG00000025984|transcript|ENSPANT00000028431.1|protein_coding|26/41|c.3253C>T|p.Gln1085*|3253/6352|3253/6198|1085/2065|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 6904718 G A A|stop_gained|HIGH|ENSPANG00000025978|ENSPANG00000025978|transcript|ENSPANT00000028395.1|protein_coding|13/15|c.1960C>T|p.Gln654*|1960/3925|1960/2406|654/801||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 9088933 G A A|start_lost|HIGH|DOLK|ENSPANG00000003223|transcript|ENSPANT00000018028.1|protein_coding|1/1|c.3G>A|p.Met1?|3/1617|3/1617|1/538||,A|upstream_gene_variant|MODIFIER|NUP188|ENSPANG00000025928|transcript|ENSPANT00000028294.1|protein_coding||c.-420C>T|||||420|,A|downstream_gene_variant|MODIFIER|PHYHD1|ENSPANG00000025929|transcript|ENSPANT00000028172.1|protein_coding||c.*4048C>T|||||4048| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 11065710 G C C|splice_donor_variant&intron_variant|HIGH|DENND1A|ENSPANG00000025853|transcript|ENSPANT00000027815.1|protein_coding|9/21|c.618+1G>C|||||| 0 0 0 NA 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 15 12163000 G A A|stop_gained|HIGH|OR1Q1|ENSPANG00000014061|transcript|ENSPANT00000016157.1|protein_coding|1/1|c.493C>T|p.Arg165*|493/942|493/942|165/313||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 1 0 0 0 1 1 0 2 1 1 0 2 1 0 2 1 0 2 0 2 0 0 0 0 1 0 1 0 0 0 0 0 0 2 0 1 2 0 0 0 0 0 0 2 0 0 0 0 0 1 2 1 1 0 0 2 0 0 2 0 2 1 1 0 0 0 0 0 1 0 0 0 0 2 2 0 2 1 1 0 1 0 15 13798805 A T T|stop_gained|HIGH|C5|ENSPANG00000025822|transcript|ENSPANT00000027698.1|protein_coding|26/41|c.2935A>T|p.Lys979*|3591/5804|2935/4611|979/1536|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 15 13983782 A T T|stop_gained|HIGH|ENSPANG00000025812|ENSPANG00000025812|transcript|ENSPANT00000027632.1|protein_coding|2/2|c.1134T>A|p.Tyr378*|1134/1934|1134/1146|378/381|| 2 2 2 1 1 2 2 1 1 1 2 1 1 1 1 2 2 2 0 1 1 2 2 1 1 0 1 2 2 0 0 1 0 0 1 1 2 0 0 0 1 1 2 0 0 0 2 2 0 1 0 0 1 0 1 1 0 1 2 1 1 0 2 1 2 2 1 2 0 0 0 1 1 0 2 1 0 1 0 2 0 0 0 1 0 1 0 2 1 0 2 1 1 1 2 1 0 0 1 0 15 17119867 C G G|stop_lost&splice_region_variant|HIGH|TLR4|ENSPANG00000025800|transcript|ENSPANT00000027659.1|protein_coding|3/3|c.2481G>C|p.Ter827Tyrext*?|2845/2845|2481/2481|827/826|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 15 21347686 C G G|splice_acceptor_variant&intron_variant|HIGH|C9orf43|ENSPANG00000025782|transcript|ENSPANT00000027615.1|protein_coding|8/14|c.866-1G>C|||||| 1 1 2 1 0 2 1 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 1 0 0 0 1 0 15 21379394 G A A|splice_acceptor_variant&intron_variant|HIGH|ALAD|ENSPANG00000025779|transcript|ENSPANT00000027617.1|protein_coding|1/11|c.-51-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 15 21710566 C T T|stop_gained|HIGH|ENSPANG00000025771|ENSPANG00000025771|transcript|ENSPANT00000027569.1|protein_coding|3/7|c.1102C>T|p.Gln368*|1102/2355|1102/2355|368/784||WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 0 0 0 1 0 1 0 0 1 1 0 1 1 0 0 1 0 1 0 1 0 0 0 1 0 0 1 1 1 2 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 1 1 1 0 1 2 1 1 0 0 0 0 1 0 0 0 0 1 0 1 0 2 0 0 1 1 0 1 1 1 2 0 0 0 0 0 0 0 0 0 1 1 1 0 0 1 1 0 0 1 0 15 21710807 T G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000025771|ENSPANG00000025771|transcript|ENSPANT00000027569.1|protein_coding|4/6|c.1181-2T>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 22601858 C A A|stop_gained|HIGH|SUSD1|ENSPANG00000025758|transcript|ENSPANT00000027374.1|protein_coding|7/21|c.923C>A|p.Ser308*|923/2351|923/2316|308/771|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 29967294 C T T|stop_gained|HIGH|ABCA1|ENSPANG00000025728|transcript|ENSPANT00000027273.1|protein_coding|13/50|c.1561C>T|p.Arg521*|2109/7346|1561/6798|521/2265|| 1 1 2 2 0 2 1 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 1 1 0 0 0 1 1 0 0 0 0 0 0 15 33365526 C T T|stop_gained|HIGH|ZNF189|ENSPANG00000025675|transcript|ENSPANT00000027259.1|protein_coding|8/11|c.464G>A|p.Trp155*|881/2652|464/2235|155/744||,T|intron_variant|MODIFIER|ZNF189|ENSPANG00000025675|transcript|ENSPANT00000027257.2|protein_coding|2/2|c.118+3902G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 15 34546432 G T T|stop_gained|HIGH|INVS|ENSPANG00000025683|transcript|ENSPANT00000027117.1|protein_coding|7/16|c.1037C>A|p.Ser346*|1061/7786|1037/3195|346/1064|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 36778605 C G G|splice_acceptor_variant&intron_variant|HIGH|ANP32B|ENSPANG00000025648|transcript|ENSPANT00000027023.2|protein_coding|6/9|c.599-1G>C||||||,G|intron_variant|MODIFIER|ANP32B|ENSPANG00000025648|transcript|ENSPANT00000027024.1|protein_coding|5/7|c.564-219G>C|||||| 1 1 2 2 0 2 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 15 39992209 C T T|stop_gained|HIGH|ENSPANG00000013674|ENSPANG00000013674|transcript|ENSPANT00000029218.1|protein_coding|1/1|c.703C>T|p.Arg235*|703/954|703/954|235/317||WARNING_TRANSCRIPT_NO_STOP_CODON 1 2 2 2 1 2 2 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 15 40145529 G A A|stop_gained|HIGH|OR13J1|ENSPANG00000021668|transcript|ENSPANT00000009556.1|protein_coding|1/1|c.447G>A|p.Trp149*|447/939|447/939|149/312|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 41309442 T C C|start_lost|HIGH|CCL21|ENSPANG00000025337|transcript|ENSPANT00000026384.2|protein_coding|1/4|c.2T>C|p.Met1?|656/4385|2/396|1/131|| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 1 2 2 2 2 1 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 15 41309443 G A A|start_lost|HIGH|CCL21|ENSPANG00000025337|transcript|ENSPANT00000026384.2|protein_coding|1/4|c.3G>A|p.Met1?|657/4385|3/396|1/131|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 15 41781084 A C C|splice_acceptor_variant&intron_variant|HIGH|KIF24|ENSPANG00000025323|transcript|ENSPANT00000026089.1|protein_coding|11/11|c.3964-2A>C||||||,C|intron_variant|MODIFIER|UBAP1|ENSPANG00000025315|transcript|ENSPANT00000026132.1|protein_coding|4/6|c.1083+1376T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 42114941 G A A|splice_acceptor_variant&intron_variant|HIGH|UBAP2|ENSPANG00000025308|transcript|ENSPANT00000026136.1|protein_coding|25/29|c.2783-1G>A|||||| NA 1 NA NA 2 NA NA 1 1 1 1 2 2 NA 1 2 2 NA 1 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 1 2 2 1 2 2 NA 2 2 1 2 2 2 2 NA NA 1 2 2 NA 1 1 1 1 1 2 1 2 2 1 1 2 1 2 2 1 2 2 NA 2 2 2 2 1 2 2 NA 1 2 1 2 1 2 NA 1 2 1 2 1 1 1 1 1 1 2 NA 15 43239335 G A A|splice_donor_variant&intron_variant|HIGH|DDX58|ENSPANG00000025269|transcript|ENSPANT00000026031.1|protein_coding|2/17|c.241+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|DDX58|ENSPANG00000025269|transcript|ENSPANT00000026030.2|protein_coding|2/17|c.91+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 15 48220890 G A A|splice_donor_variant&intron_variant|HIGH|LRRC19|ENSPANG00000025268|transcript|ENSPANT00000025978.1|protein_coding|2/4|c.81+1G>A||||||,A|intron_variant|MODIFIER|IFT74|ENSPANG00000025276|transcript|ENSPANT00000025977.1|protein_coding|2/13|c.92+11536C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 15 53041256 G A A|stop_gained|HIGH|ENSPANG00000016057|ENSPANG00000016057|transcript|ENSPANT00000013379.1|protein_coding|1/1|c.898C>T|p.Arg300*|898/963|898/963|300/320|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 53273314 G A A|stop_gained|HIGH|MTAP|ENSPANG00000025242|transcript|ENSPANT00000025965.1|protein_coding|1/8|c.1C>T|p.Gln1*|1/852|1/852|1/283||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|MTAP|ENSPANG00000025242|transcript|ENSPANT00000025964.2|protein_coding|1/7|c.34-794C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 1 0 1 0 0 0 1 1 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 2 0 0 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 1 0 1 0 15 53677051 G A A|stop_gained|HIGH|IFNA8|ENSPANG00000000457|transcript|ENSPANT00000013146.1|protein_coding|1/1|c.256C>T|p.Gln86*|256/567|256/567|86/188||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 59934989 G A A|stop_gained|HIGH|ENSPANG00000025227|ENSPANG00000025227|transcript|ENSPANT00000025770.1|protein_coding|12/14|c.841C>T|p.Arg281*|841/1154|841/1050|281/349|| 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 1 2 2 2 1 2 2 2 2 2 2 2 2 2 2 15 59946612 C A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000025227|ENSPANG00000025227|transcript|ENSPANT00000025770.1|protein_coding|6/13|c.503+1G>T|||||| 0 1 0 0 1 0 0 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 15 60181569 C G G|stop_gained|HIGH|FREM1|ENSPANG00000025228|transcript|ENSPANT00000025771.1|protein_coding|26/37|c.4973C>G|p.Ser1658*|5296/9596|4973/6537|1658/2178|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 70539820 G A A|splice_donor_variant&intron_variant|HIGH|SPATA6L|ENSPANG00000025154|transcript|ENSPANT00000025567.1|protein_coding|2/12|c.177+1G>A||||||,A|upstream_gene_variant|MODIFIER|PLPP6|ENSPANG00000025155|transcript|ENSPANT00000025568.1|protein_coding||c.-478C>T|||||478| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 15 72349834 C T T|stop_gained|HIGH|ENSPANG00000025142|ENSPANG00000025142|transcript|ENSPANT00000025291.1|protein_coding|3/6|c.292C>T|p.Arg98*|292/960|292/960|98/319||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 15 75092430 G A A|stop_gained|HIGH|ENSPANG00000025116|ENSPANG00000025116|transcript|ENSPANT00000025376.1|protein_coding|14/14|c.978G>A|p.Trp326*|978/1122|978/1122|326/373||,A|upstream_gene_variant|MODIFIER|FOXD4L1|ENSPANG00000009332|transcript|ENSPANT00000021902.1|protein_coding||c.-4870G>A|||||4870| 2 2 2 2 2 2 2 2 2 2 2 2 1 1 1 1 1 2 2 1 1 1 1 1 2 2 2 0 2 1 1 2 2 2 1 1 1 2 0 2 2 0 1 2 2 0 1 1 2 2 2 2 1 2 2 2 2 1 2 2 1 1 2 2 1 0 2 0 2 1 2 2 2 2 2 2 2 1 2 1 1 0 2 1 1 0 2 2 1 1 1 2 2 2 2 2 1 2 2 1 15 77044429 C T T|stop_gained|HIGH|SMC5|ENSPANG00000025102|transcript|ENSPANT00000025340.1|protein_coding|1/25|c.100C>T|p.Arg34*|100/3606|100/3606|34/1201|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 79616993 T C C|splice_donor_variant&intron_variant|HIGH|TMC1|ENSPANG00000024924|transcript|ENSPANT00000025266.2|protein_coding|23/24|c.2193+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_donor_variant&intron_variant|HIGH|TMC1|ENSPANG00000024924|transcript|ENSPANT00000025278.1|protein_coding|15/16|c.1905+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 15 83050900 G A A|stop_gained|HIGH|ENSPANG00000024935|ENSPANG00000024935|transcript|ENSPANT00000025112.1|protein_coding|6/9|c.649C>T|p.Gln217*|649/1077|649/1077|217/358||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|PCSK5|ENSPANG00000024934|transcript|ENSPANT00000025111.1|protein_coding|23/35|c.2744-4920G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 15 83844994 G C C|stop_gained|HIGH|ENSPANG00000014419|ENSPANG00000014419|transcript|ENSPANT00000010659.1|protein_coding|1/1|c.456C>G|p.Tyr152*|456/462|456/462|152/153||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 84056812 A G G|splice_donor_variant&intron_variant|HIGH|VPS13A|ENSPANG00000024938|transcript|ENSPANT00000025125.2|protein_coding|43/72|c.5427+2A>G||||||,G|intron_variant|MODIFIER|VPS13A|ENSPANG00000024938|transcript|ENSPANT00000025165.1|protein_coding|42/62|c.6150+388A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 84147766 C T T|splice_acceptor_variant&intron_variant|HIGH|VPS13A|ENSPANG00000024938|transcript|ENSPANT00000025125.2|protein_coding|72/72|c.9490-2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 86475295 T A A|stop_gained|HIGH|PPP2R5C|ENSPANG00000024904|transcript|ENSPANT00000025186.1|protein_coding|2/2|c.494T>A|p.Leu165*|710/1946|494/1275|165/424|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 86475939 C T T|stop_gained|HIGH|PPP2R5C|ENSPANG00000024904|transcript|ENSPANT00000025186.1|protein_coding|2/2|c.1138C>T|p.Gln380*|1354/1946|1138/1275|380/424|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 NA 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 15 88624670 C T T|stop_gained|HIGH|ENSPANG00000024906|ENSPANG00000024906|transcript|ENSPANT00000025185.1|protein_coding|4/5|c.364C>T|p.Arg122*|364/4725|364/4725|122/1574||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 97686234 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000024827|ENSPANG00000024827|transcript|ENSPANT00000024587.1|protein_coding|1/3|c.164+1G>A|||||| 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 0 0 0 15 98546192 C T T|stop_gained|HIGH|ENSPANG00000001982|ENSPANG00000001982|transcript|ENSPANT00000007180.1|protein_coding|1/1|c.166C>T|p.Gln56*|170/590|166/555|56/184|| 2 2 2 1 1 2 2 1 1 1 2 0 2 2 1 2 1 2 0 2 1 1 2 0 2 1 2 2 2 0 1 0 0 0 1 2 1 1 1 0 1 2 1 1 1 2 1 1 0 2 2 1 1 0 1 1 2 2 0 1 1 0 1 1 1 2 1 2 0 1 0 2 2 0 2 1 0 1 0 2 0 2 2 2 1 2 2 1 2 1 0 1 1 1 2 1 0 1 1 1 15 99381823 C A A|stop_gained|HIGH|HSPA5|ENSPANG00000024811|transcript|ENSPANT00000024578.1|protein_coding|5/9|c.630C>A|p.Tyr210*|964/2092|630/1758|210/585|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 15 101212034 G T T|stop_gained|HIGH|ENSPANG00000024807|ENSPANG00000024807|transcript|ENSPANT00000024565.1|protein_coding|4/4|c.1177G>T|p.Glu393*|1177/1209|1177/1209|393/402|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 15 101811156 G A A|stop_gained|HIGH|OMD|ENSPANG00000024728|transcript|ENSPANT00000024546.1|protein_coding|2/2|c.1309C>T|p.Gln437*|1309/1317|1309/1317|437/438||,A|intron_variant|MODIFIER|CENPP|ENSPANG00000024726|transcript|ENSPANT00000024544.1|protein_coding|5/5|c.565-1219G>A|||||| 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 1 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 1 0 0 1 0 0 0 1 0 0 0 0 0 1 0 0 0 0 15 102699451 C A A|stop_gained|HIGH|FAM120AOS|ENSPANG00000024702|transcript|ENSPANT00000024475.1|protein_coding|1/4|c.43G>T|p.Glu15*|43/1158|43/762|15/253||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|C9orf129|ENSPANG00000024701|transcript|ENSPANT00000024474.1|protein_coding|2/5|c.100+61688G>T||||||WARNING_TRANSCRIPT_NO_START_CODON,A|intron_variant|MODIFIER|FAM120A|ENSPANG00000024694|transcript|ENSPANT00000024476.1|protein_coding|1/17|c.474+270C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 15 103507979 C T T|stop_gained|HIGH|ZNF169|ENSPANG00000024689|transcript|ENSPANT00000024388.1|protein_coding|5/5|c.889C>T|p.Arg297*|1551/2474|889/1812|297/603|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 104273671 G A A|stop_gained|HIGH|FANCC|ENSPANG00000024653|transcript|ENSPANT00000024407.1|protein_coding|15/15|c.1669C>T|p.Gln557*|1836/1844|1669/1677|557/558|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 106663387 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000024642|ENSPANG00000024642|transcript|ENSPANT00000024231.1|protein_coding|7/22|c.1148-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 15 107011822 A T T|stop_gained|HIGH|ENSPANG00000024645|ENSPANG00000024645|transcript|ENSPANT00000024234.1|protein_coding|2/3|c.160A>T|p.Lys54*|160/480|160/480|54/159||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 16 1430276 G A A|stop_gained|HIGH|RILP|ENSPANG00000024606|transcript|ENSPANT00000024214.1|protein_coding|2/8|c.232C>T|p.Gln78*|232/1170|232/1170|78/389||,A|3_prime_UTR_variant|MODIFIER|PRPF8|ENSPANG00000024607|transcript|ENSPANT00000024215.1|protein_coding|41/41|c.*1361C>T|||||1361|,A|upstream_gene_variant|MODIFIER|SCARF1|ENSPANG00000024605|transcript|ENSPANT00000024199.1|protein_coding||c.-3716C>T|||||3716| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 1477024 G A A|stop_gained|HIGH|TLCD2|ENSPANG00000024599|transcript|ENSPANT00000024216.1|protein_coding|1/3|c.388C>T|p.Gln130*|388/1919|388/1074|130/357||,A|downstream_gene_variant|MODIFIER|ENSPANG00000001911|ENSPANG00000001911|transcript|ENSPANT00000004581.1|miRNA||n.*3719C>T|||||3719| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 16 2816903 G A A|stop_gained|HIGH|OR1A1|ENSPANG00000003225|transcript|ENSPANT00000017928.1|protein_coding|1/1|c.964C>T|p.Gln322*|964/975|964/975|322/324||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 16 3884651 C T T|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000024353|ENSPANG00000024353|transcript|ENSPANT00000023864.1|pseudogene|1/3|n.307-2C>T||||||,T|intron_variant|MODIFIER|ANKFY1|ENSPANG00000024354|transcript|ENSPANT00000023863.1|protein_coding|2/24|c.323-5419G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 4425818 C T T|splice_donor_variant&intron_variant|HIGH|CXCL16|ENSPANG00000024346|transcript|ENSPANT00000023727.1|protein_coding|1/5|c.142+1G>A||||||,T|upstream_gene_variant|MODIFIER|ZMYND15|ENSPANG00000024339|transcript|ENSPANT00000023729.1|protein_coding||c.-1310C>T|||||1280| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 16 4487836 C T T|stop_gained|HIGH|PSMB6|ENSPANG00000024329|transcript|ENSPANT00000023641.1|protein_coding|4/6|c.367C>T|p.Arg123*|470/5523|367/720|123/239|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 4495985 A G G|splice_acceptor_variant&intron_variant|HIGH|PLD2|ENSPANG00000024330|transcript|ENSPANT00000023637.1|protein_coding|1/25|c.-135-2A>G||||||,G|downstream_gene_variant|MODIFIER|PSMB6|ENSPANG00000024329|transcript|ENSPANT00000023641.1|protein_coding||c.*7471A>G|||||2771| 2 2 2 2 1 2 2 1 1 1 2 0 2 1 1 2 1 1 2 2 1 1 2 2 2 0 2 2 0 0 2 2 0 2 1 1 1 2 2 2 0 2 2 1 1 1 2 0 1 2 1 2 1 1 0 1 2 2 2 2 1 1 1 2 2 2 1 2 0 2 0 0 1 0 1 1 0 1 0 2 0 2 2 2 1 2 1 1 2 1 0 2 1 1 1 1 0 0 0 2 16 4822861 C A A|stop_gained|HIGH|ZNF594|ENSPANG00000024309|transcript|ENSPANT00000023475.1|protein_coding|4/8|c.1765G>T|p.Glu589*|1765/2967|1765/2967|589/988||WARNING_TRANSCRIPT_NO_START_CODON NA 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 1 0 0 0 0 0 0 2 0 NA 0 2 NA NA 2 0 0 0 2 NA 0 0 0 NA NA 0 2 0 NA 1 0 0 0 NA 0 1 2 0 0 NA 0 NA NA 2 NA NA NA 0 0 0 2 0 2 0 0 2 0 0 2 0 2 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 2 NA 2 0 2 0 16 4823068 T A A|stop_gained|HIGH|ZNF594|ENSPANG00000024309|transcript|ENSPANT00000023475.1|protein_coding|4/8|c.1558A>T|p.Arg520*|1558/2967|1558/2967|520/988||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA NA 0 0 0 0 0 NA 0 0 0 NA NA 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 NA 0 NA NA 0 NA NA NA 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 2 16 4824500 C A A|splice_acceptor_variant&intron_variant|HIGH|ZNF594|ENSPANG00000024309|transcript|ENSPANT00000023475.1|protein_coding|1/7|c.523-1G>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 2 0 0 1 0 0 0 0 0 0 NA 0 0 NA NA 0 0 NA 1 NA NA 0 0 2 NA NA 0 0 0 NA 0 0 0 0 NA 0 0 0 2 0 NA 1 NA NA 0 NA NA NA 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 2 0 2 0 0 0 0 NA 0 0 0 0 NA 16 6283581 T G G|splice_acceptor_variant&intron_variant|HIGH|KIAA0753|ENSPANG00000024255|transcript|ENSPANT00000023447.1|protein_coding|1/17|c.97-2A>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 6531928 C T T|stop_gained|HIGH|ENSPANG00000024253|ENSPANG00000024253|transcript|ENSPANT00000023401.1|protein_coding|1/15|c.187C>T|p.Arg63*|187/2073|187/2073|63/690||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 16 6532820 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000024253|ENSPANG00000024253|transcript|ENSPANT00000023401.1|protein_coding|3/14|c.488+1A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 1 1 1 1 2 2 0 1 0 2 1 0 0 1 0 0 1 0 0 2 1 0 0 0 2 0 0 1 1 1 0 1 1 0 0 0 1 1 1 1 0 0 1 1 0 0 1 1 0 0 1 0 1 0 0 1 0 2 0 0 1 2 0 1 0 0 0 0 0 0 1 0 0 1 1 1 1 0 0 0 1 0 0 0 16 6536583 C T T|stop_gained&splice_region_variant|HIGH|ENSPANG00000024253|ENSPANG00000024253|transcript|ENSPANT00000023401.1|protein_coding|11/15|c.1501C>T|p.Gln501*|1501/2073|1501/2073|501/690||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 1 1 0 1 0 2 0 0 0 1 0 0 1 0 0 1 1 0 0 0 1 0 0 1 1 1 0 1 1 0 0 0 1 1 1 1 0 0 0 1 0 2 1 0 0 0 1 0 1 0 2 1 0 2 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 1 0 2 0 16 7781404 T G G|splice_acceptor_variant&intron_variant|HIGH|ALOX12B|ENSPANG00000023836|transcript|ENSPANT00000023058.1|protein_coding|8/14|c.1075-2A>C||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000023837|ENSPANG00000023837|transcript|ENSPANT00000023059.1|pseudogene||n.-3087T>G|||||3087| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 8072182 T C C|start_lost|HIGH|NDEL1|ENSPANG00000023797|transcript|ENSPANT00000022961.1|protein_coding|1/6|c.2T>C|p.Met1?|109/1159|2/786|1/261|| 2 1 1 1 2 1 1 2 2 2 2 2 0 1 1 0 2 1 2 0 1 1 2 1 1 2 2 2 2 2 1 2 2 1 2 2 2 2 0 0 0 2 2 1 0 2 2 2 1 1 1 1 1 2 2 0 0 1 1 2 1 2 2 1 2 1 1 1 2 2 2 0 2 2 0 2 2 2 2 1 1 2 1 1 1 1 1 2 2 0 2 0 2 1 1 2 2 1 2 0 16 9280492 G T T|stop_gained|HIGH|CFAP52|ENSPANG00000023778|transcript|ENSPANT00000022685.1|protein_coding|7/17|c.517G>T|p.Glu173*|574/1923|517/1866|173/621|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 1 2 0 1 0 1 1 0 0 0 1 0 1 0 1 2 1 0 0 0 2 0 0 1 2 1 1 1 1 1 0 0 0 0 0 2 0 0 1 2 0 1 0 2 2 0 2 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 16 11437471 C T T|stop_gained|HIGH|DNAH9|ENSPANG00000023767|transcript|ENSPANT00000022809.1|protein_coding|38/70|c.7429C>T|p.Gln2477*|7429/13476|7429/13476|2477/4491|| 2 2 2 2 2 2 2 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 1 2 0 2 2 2 1 1 2 0 2 2 2 2 1 2 2 2 2 2 2 2 2 2 2 2 1 1 2 2 1 0 2 2 2 2 2 2 0 2 1 2 2 2 2 0 2 1 2 2 0 2 2 0 2 1 2 2 2 2 2 2 2 2 2 2 2 2 2 1 2 1 1 0 2 0 2 16 16087467 A G G|splice_acceptor_variant&intron_variant|HIGH|NCOR1|ENSPANG00000023711|transcript|ENSPANT00000022471.1|protein_coding|24/51|c.3017-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 17609529 G A A|splice_acceptor_variant&intron_variant|HIGH|DRC3|ENSPANG00000023677|transcript|ENSPANT00000022403.1|protein_coding|8/13|c.823-2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 17651740 A G G|splice_donor_variant&intron_variant|HIGH|ATPAF2|ENSPANG00000023678|transcript|ENSPANT00000022468.1|protein_coding|1/7|c.133+2T>C||||||,G|upstream_gene_variant|MODIFIER|GID4|ENSPANG00000023679|transcript|ENSPANT00000022334.1|protein_coding||c.-581A>G|||||581|WARNING_TRANSCRIPT_NO_START_CODON 1 2 2 2 1 1 0 1 1 0 1 2 2 2 1 1 2 2 2 1 2 0 1 2 2 2 1 1 1 2 2 2 2 2 2 1 1 2 2 2 2 2 1 2 1 1 1 2 0 0 0 2 2 1 2 2 2 2 1 1 1 2 0 2 1 1 2 0 1 2 2 2 1 2 2 2 1 1 2 2 1 2 2 1 1 1 0 2 1 2 0 1 2 1 2 2 1 0 2 2 16 17895036 T A A|stop_lost&splice_region_variant|HIGH|TOP3A|ENSPANG00000023686|transcript|ENSPANT00000022359.1|protein_coding|20/20|c.3006A>T|p.Ter1002Cysext*?|3006/3006|3006/3006|1002/1001|| 0 1 1 1 1 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 16 19524288 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000023624|ENSPANG00000023624|transcript|ENSPANT00000022149.1|protein_coding|2/16|c.419-2A>G||||||,G|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000026858|transcript|ENSPANT00000003832.1|misc_RNA||n.-4881A>G|||||4881| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 16 20787278 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000023547|ENSPANG00000023547|transcript|ENSPANT00000022098.1|protein_coding|2/11|c.197+1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 20794318 C T T|stop_gained|HIGH|ENSPANG00000023547|ENSPANG00000023547|transcript|ENSPANT00000022098.1|protein_coding|10/12|c.886C>T|p.Arg296*|886/1356|886/1356|296/451||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 1 0 1 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 16 20794376 G A A|stop_gained|HIGH|ENSPANG00000023547|ENSPANG00000023547|transcript|ENSPANT00000022098.1|protein_coding|10/12|c.944G>A|p.Trp315*|944/1356|944/1356|315/451||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 1 0 0 0 1 1 0 1 0 1 0 0 0 0 1 0 2 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 1 1 0 0 0 2 0 0 0 1 1 0 0 1 0 0 2 0 1 16 21109976 A T T|splice_donor_variant&intron_variant|HIGH|NOS2|ENSPANG00000023535|transcript|ENSPANT00000022045.1|protein_coding|27/27|c.3348+2T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 NA 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 21623550 C A A|stop_gained|HIGH|ENSPANG00000023540|ENSPANG00000023540|transcript|ENSPANT00000021994.1|protein_coding|3/6|c.718G>T|p.Glu240*|718/1086|718/1086|240/361||WARNING_TRANSCRIPT_NO_START_CODON,A|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000003055|ENSPANG00000003055|transcript|ENSPANT00000019045.1|miRNA|1/1|n.86G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 16 21720768 A C C|stop_gained|HIGH|SEBOX|ENSPANG00000023513|transcript|ENSPANT00000021963.1|protein_coding|3/3|c.603T>G|p.Tyr201*|603/636|603/636|201/211||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|TMEM199|ENSPANG00000023512|transcript|ENSPANT00000021962.1|protein_coding||c.*4873A>C|||||4372|,C|downstream_gene_variant|MODIFIER|ENSPANG00000014264|ENSPANG00000014264|transcript|ENSPANT00000014256.1|miRNA||n.*3574A>C|||||3574|,C|downstream_gene_variant|MODIFIER|VTN|ENSPANG00000023514|transcript|ENSPANT00000021964.1|protein_coding||c.*3008T>G|||||489| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 21721388 T A A|stop_gained|HIGH|SEBOX|ENSPANG00000023513|transcript|ENSPANT00000021963.1|protein_coding|2/3|c.127A>T|p.Arg43*|127/636|127/636|43/211||WARNING_TRANSCRIPT_NO_STOP_CODON,A|3_prime_UTR_variant|MODIFIER|VTN|ENSPANG00000023514|transcript|ENSPANT00000021964.1|protein_coding|8/8|c.*2388A>T|||||2388|,A|downstream_gene_variant|MODIFIER|TMEM199|ENSPANG00000023512|transcript|ENSPANT00000021962.1|protein_coding||c.*5493T>A|||||4992|,A|downstream_gene_variant|MODIFIER|ENSPANG00000014264|ENSPANG00000014264|transcript|ENSPANT00000014256.1|miRNA||n.*4194T>A|||||4194| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 16 23518263 C T T|stop_gained&splice_region_variant|HIGH|NSRP1|ENSPANG00000023146|transcript|ENSPANT00000021245.1|protein_coding|1/7|c.511C>T|p.Gln171*|511/1713|511/1713|171/570||,T|upstream_gene_variant|MODIFIER|ENSPANG00000000390|ENSPANG00000000390|transcript|ENSPANT00000013656.1|miRNA||n.-213C>T|||||213| 1 2 2 1 2 2 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 2 1 0 0 0 0 0 0 0 2 1 0 0 0 0 0 1 1 0 0 0 1 0 1 1 1 0 0 2 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 2 1 2 0 2 0 0 0 0 0 1 0 0 0 0 0 1 16 23965560 C T T|stop_gained|HIGH|ENSPANG00000023159|ENSPANG00000023159|transcript|ENSPANT00000021241.1|protein_coding|2/8|c.73C>T|p.Arg25*|73/1233|73/1233|25/410||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 0 2 2 2 1 1 1 2 2 2 2 0 2 0 1 1 0 0 1 0 1 2 0 2 0 1 2 0 0 1 0 0 1 2 2 2 1 0 0 1 2 2 1 0 2 1 2 2 0 0 1 2 2 1 1 1 0 1 1 2 1 1 0 0 0 0 0 0 0 0 2 0 1 0 2 0 0 0 0 1 1 0 1 1 1 0 1 0 1 2 0 0 0 0 1 16 23968925 C T T|stop_gained|HIGH|ENSPANG00000023159|ENSPANG00000023159|transcript|ENSPANT00000021241.1|protein_coding|8/8|c.823C>T|p.Gln275*|823/1233|823/1233|275/410||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 16 23985928 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000023179|ENSPANG00000023179|transcript|ENSPANT00000021238.1|protein_coding|13/14|c.828-1G>A|||||| 1 0 0 1 0 0 1 1 1 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 0 0 0 1 0 0 1 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 16 23992112 C T T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000023179|ENSPANG00000023179|transcript|ENSPANT00000021238.1|protein_coding|4/14|c.236-2G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 1 0 16 27475143 C T T|stop_gained|HIGH|CCL13|ENSPANG00000023023|transcript|ENSPANT00000020969.1|protein_coding|2/3|c.178C>T|p.Gln60*|438/1120|178/297|60/98||,T|downstream_gene_variant|MODIFIER|CCL1|ENSPANG00000023019|transcript|ENSPANT00000020970.1|protein_coding||c.*3139G>A|||||3139|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 16 28543469 C A A|stop_gained|HIGH|SLFN13|ENSPANG00000022988|transcript|ENSPANT00000020650.1|protein_coding|6/6|c.2047G>T|p.Glu683*|2128/2778|2047/2697|683/898||,A|intron_variant|MODIFIER|SLFN12L|ENSPANG00000022996|transcript|ENSPANT00000020646.1|protein_coding|4/5|c.1392+22624G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 2 2 1 1 2 1 1 1 2 1 1 2 2 1 2 2 2 1 2 1 0 0 0 2 0 1 0 2 0 2 1 1 0 1 1 1 2 2 2 1 2 0 2 1 2 2 1 0 1 1 1 1 0 1 0 0 1 2 1 2 NA 0 1 2 1 0 0 0 2 0 2 2 0 1 1 1 0 0 2 1 0 0 2 2 1 0 0 2 0 0 1 0 2 1 0 1 0 0 0 16 28543539 G C C|stop_gained|HIGH|SLFN13|ENSPANG00000022988|transcript|ENSPANT00000020650.1|protein_coding|6/6|c.1977C>G|p.Tyr659*|2058/2778|1977/2697|659/898||,C|intron_variant|MODIFIER|SLFN12L|ENSPANG00000022996|transcript|ENSPANT00000020646.1|protein_coding|4/5|c.1392+22554C>G||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 28544259 G A A|stop_gained|HIGH|SLFN13|ENSPANG00000022988|transcript|ENSPANT00000020650.1|protein_coding|5/6|c.1453C>T|p.Gln485*|1534/2778|1453/2697|485/898||,A|intron_variant|MODIFIER|SLFN12L|ENSPANG00000022996|transcript|ENSPANT00000020646.1|protein_coding|4/5|c.1392+21834C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 1 1 1 1 0 1 1 1 1 1 2 2 NA 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 1 1 1 2 2 0 1 0 0 1 1 1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 NA 0 1 1 1 0 0 NA 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 1 1 0 0 0 0 0 16 29094523 G C C|stop_gained|HIGH|CCL14|ENSPANG00000022936|transcript|ENSPANT00000020414.1|protein_coding|3/4|c.146C>G|p.Ser49*|146/327|146/327|49/108||WARNING_TRANSCRIPT_NO_STOP_CODON,C|upstream_gene_variant|MODIFIER|CCL16|ENSPANG00000022935|transcript|ENSPANT00000020852.1|protein_coding||c.-2231C>G|||||1560|,C|upstream_gene_variant|MODIFIER|ENSPANG00000008168|ENSPANG00000008168|transcript|ENSPANT00000023642.1|protein_coding||c.-2065G>C|||||2065|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 29094543 G A A|splice_acceptor_variant&intron_variant|HIGH|CCL14|ENSPANG00000022936|transcript|ENSPANT00000020414.1|protein_coding|2/3|c.128-2C>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|CCL16|ENSPANG00000022935|transcript|ENSPANT00000020852.1|protein_coding||c.-2251C>T|||||1580|,A|upstream_gene_variant|MODIFIER|ENSPANG00000008168|ENSPANG00000008168|transcript|ENSPANT00000023642.1|protein_coding||c.-2045G>A|||||2045|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 29184506 G A A|splice_acceptor_variant&intron_variant|HIGH|CCL18|ENSPANG00000022939|transcript|ENSPANT00000020437.1|protein_coding|1/2|c.56-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 29435294 T A A|stop_gained|HIGH|SP2|ENSPANG00000022922|transcript|ENSPANT00000020328.1|protein_coding|9/9|c.2000T>A|p.Leu667*|2000/2031|2000/2031|667/676|| 0 0 0 0 1 1 1 0 1 1 0 1 1 1 1 1 0 1 1 0 2 1 0 0 0 0 1 0 2 0 0 1 1 0 1 2 0 0 1 0 1 1 0 0 2 1 1 0 1 1 1 0 0 0 1 0 0 0 0 0 1 0 1 0 2 0 1 0 0 2 1 1 0 1 0 1 0 2 0 1 1 0 1 0 1 0 0 0 0 1 0 1 1 1 1 1 0 0 0 0 16 30130596 G C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000022893|ENSPANG00000022893|transcript|ENSPANT00000020316.1|protein_coding|1/1|c.40-1G>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|ENSPANG00000022890|ENSPANG00000022890|transcript|ENSPANT00000020251.1|protein_coding||c.*3714G>C|||||3714|WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|HOXB7|ENSPANG00000022894|transcript|ENSPANT00000020317.1|protein_coding||c.*1690C>G|||||1090| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 30308450 C T T|splice_donor_variant&intron_variant|HIGH|TTLL6|ENSPANG00000022885|transcript|ENSPANT00000020239.2|protein_coding|12/15|c.1887+1G>A||||||,T|missense_variant|MODERATE|TTLL6|ENSPANG00000022885|transcript|ENSPANT00000020240.1|protein_coding|10/13|c.1570G>A|p.Ala524Thr|1668/4274|1570/2208|524/735|| 1 2 2 1 0 1 0 1 0 1 1 1 0 1 1 0 0 1 0 0 0 0 1 0 2 0 0 2 0 0 1 0 0 1 1 2 1 2 1 0 0 1 1 1 0 1 1 1 1 1 2 0 0 0 0 0 0 1 2 0 0 0 0 1 1 1 0 2 0 2 0 0 0 1 1 1 0 1 0 0 1 2 1 2 0 1 0 0 0 0 0 1 0 1 1 1 0 1 0 1 16 38334450 G T T|stop_gained|HIGH|MSI2|ENSPANG00000022319|transcript|ENSPANT00000002154.1|protein_coding|6/11|c.415G>T|p.Gly139*|659/1090|415/846|139/281||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 0 2 1 2 1 0 0 1 0 1 1 2 1 1 1 1 0 1 0 0 0 2 1 1 0 0 0 1 0 0 1 2 0 0 0 0 1 1 0 1 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 0 0 1 1 0 2 0 0 0 1 0 0 1 1 0 2 0 1 0 1 1 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 2 16 38806217 G A A|stop_gained|HIGH|CUEDC1|ENSPANG00000022308|transcript|ENSPANT00000002164.1|protein_coding|5/15|c.397C>T|p.Arg133*|397/1137|397/1134|133/377||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 39547493 G A A|stop_gained&splice_region_variant|HIGH|TEX14|ENSPANG00000022303|transcript|ENSPANT00000002379.1|protein_coding|4/27|c.253C>T|p.Arg85*|253/5126|253/3165|85/1054|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 41587671 C T T|stop_gained|HIGH|NACA2|ENSPANG00000005472|transcript|ENSPANT00000005626.1|protein_coding|1/1|c.40C>T|p.Gln14*|40/648|40/648|14/215||,T|intron_variant|MODIFIER|ENSPANG00000029056|ENSPANG00000029056|transcript|ENSPANT00000030814.1|lincRNA|1/1|n.71-8712C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 41587785 C T T|stop_gained|HIGH|NACA2|ENSPANG00000005472|transcript|ENSPANT00000005626.1|protein_coding|1/1|c.154C>T|p.Gln52*|154/648|154/648|52/215||,T|intron_variant|MODIFIER|ENSPANG00000029056|ENSPANG00000029056|transcript|ENSPANT00000030814.1|lincRNA|1/1|n.71-8598C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 16 42532109 A T T|stop_gained|HIGH|PPM1D|ENSPANG00000022160|transcript|ENSPANT00000002513.2|protein_coding|8/10|c.1232T>A|p.Leu411*|1464/2050|1232/1818|411/605||,T|downstream_gene_variant|MODIFIER|U6|ENSPANG00000027216|transcript|ENSPANT00000017964.1|snRNA||n.*3086A>T|||||3086|,T|intron_variant|MODIFIER|PPM1D|ENSPANG00000022160|transcript|ENSPANT00000002515.1|protein_coding|4/4|c.1018-3752T>A|||||| 0 1 1 1 1 1 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 16 42532151 G C C|stop_gained|HIGH|PPM1D|ENSPANG00000022160|transcript|ENSPANT00000002513.2|protein_coding|8/10|c.1190C>G|p.Ser397*|1422/2050|1190/1818|397/605||,C|downstream_gene_variant|MODIFIER|U6|ENSPANG00000027216|transcript|ENSPANT00000017964.1|snRNA||n.*3128G>C|||||3128|,C|intron_variant|MODIFIER|PPM1D|ENSPANG00000022160|transcript|ENSPANT00000002515.1|protein_coding|4/4|c.1018-3794C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 16 43162312 G C C|stop_gained|HIGH|MYO19|ENSPANG00000022136|transcript|ENSPANT00000002619.1|protein_coding|3/25|c.105C>G|p.Tyr35*|398/3182|105/2889|35/962|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 45478234 G T T|stop_gained|HIGH|ENSPANG00000021998|ENSPANG00000021998|transcript|ENSPANT00000004064.1|protein_coding|1/4|c.62C>A|p.Ser21*|62/2879|62/555|21/184||,T|upstream_gene_variant|MODIFIER|SNORA21|ENSPANG00000002124|transcript|ENSPANT00000022766.1|snoRNA||n.-2239C>A|||||2239|,T|upstream_gene_variant|MODIFIER|SNORA21|ENSPANG00000010842|transcript|ENSPANT00000011868.1|snoRNA||n.-907C>A|||||907| 0 1 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 16 45700512 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000021989|ENSPANG00000021989|transcript|ENSPANT00000004078.1|protein_coding|9/12|c.1708-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 1 2 2 1 0 1 0 1 0 1 1 0 0 1 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 1 0 0 1 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 2 0 0 1 1 1 0 0 0 0 0 1 2 1 2 1 0 0 1 0 0 0 1 1 1 1 0 0 0 0 0 16 45763751 A C C|splice_donor_variant&intron_variant|HIGH|PLXDC1|ENSPANG00000021982|transcript|ENSPANT00000004063.1|protein_coding|3/13|c.399+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 47468525 C A A|stop_gained|HIGH|KRT26|ENSPANG00000021624|transcript|ENSPANT00000007475.1|protein_coding|6/8|c.1006G>T|p.Glu336*|1006/1404|1006/1404|336/467||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 16 47954331 A T T|splice_acceptor_variant&intron_variant|HIGH|KRTAP9-1|ENSPANG00000021573|transcript|ENSPANT00000008625.1|protein_coding|4/5|c.618-2A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|KRTAP9-1|ENSPANG00000021573|transcript|ENSPANT00000008816.2|protein_coding|2/3|c.109A>T|p.Ser37Cys|109/480|109/480|37/159||WARNING_TRANSCRIPT_NO_STOP_CODON,T|missense_variant|MODERATE|KRTAP9-1|ENSPANG00000021573|transcript|ENSPANT00000008820.1|protein_coding|2/3|c.109A>T|p.Ser37Cys|109/507|109/507|37/168||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KRTAP9-1|ENSPANG00000021573|transcript|ENSPANT00000008624.2|protein_coding|2/2|c.351-215A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|intron_variant|MODIFIER|KRTAP9-1|ENSPANG00000021573|transcript|ENSPANT00000008817.1|protein_coding|2/2|c.408-6547A>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 16 48389218 G A A|stop_gained|HIGH|HAP1|ENSPANG00000021515|transcript|ENSPANT00000010365.1|protein_coding|17/18|c.1756C>T|p.Gln586*|1756/1830|1756/1830|586/609||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000012080|transcript|ENSPANT00000000982.1|misc_RNA||n.*2490C>T|||||2490| 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 2 0 1 0 0 1 0 0 0 0 0 2 0 1 0 0 0 0 0 1 0 0 0 0 1 0 1 1 0 1 1 1 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 2 0 1 1 0 0 0 0 2 0 2 1 2 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 16 48392958 C T T|stop_gained|HIGH|HAP1|ENSPANG00000021515|transcript|ENSPANT00000010365.1|protein_coding|10/18|c.1022G>A|p.Trp341*|1022/1830|1022/1830|341/609||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|Metazoa_SRP|ENSPANG00000012080|transcript|ENSPANT00000000982.1|misc_RNA||n.-971G>A|||||971| 0 0 0 0 0 0 0 0 0 0 0 0 2 0 2 2 0 1 0 0 1 0 0 0 0 0 2 0 1 1 0 0 0 0 1 0 0 0 0 1 0 1 1 0 1 1 1 0 0 1 1 0 1 0 0 0 0 1 0 0 0 1 1 0 1 0 0 0 0 2 1 1 1 1 0 0 0 2 1 2 1 2 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 16 48612214 T G G|splice_acceptor_variant&intron_variant|HIGH|TTC25|ENSPANG00000021478|transcript|ENSPANT00000010742.1|protein_coding|10/14|c.1183-1T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 2 0 0 1 0 0 0 1 0 2 0 0 0 2 1 0 1 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 1 2 0 0 1 1 0 1 0 0 0 2 0 0 0 0 1 0 2 0 2 0 0 2 0 0 2 0 2 0 0 0 1 0 1 1 0 0 0 1 1 1 1 NA 0 1 2 0 1 0 16 49473590 G A A|splice_donor_variant&intron_variant|HIGH|CNTD1|ENSPANG00000021411|transcript|ENSPANT00000012158.1|protein_coding|4/6|c.580+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 1 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 51288398 G A A|splice_donor_variant&intron_variant|HIGH|DBF4B|ENSPANG00000021279|transcript|ENSPANT00000014535.1|protein_coding|2/12|c.82+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 51434885 G A A|stop_gained|HIGH|HIGD1B|ENSPANG00000021282|transcript|ENSPANT00000014538.1|protein_coding|1/3|c.24G>A|p.Trp8*|343/703|24/300|8/99||,A|downstream_gene_variant|MODIFIER|EFTUD2|ENSPANG00000021284|transcript|ENSPANT00000014554.1|protein_coding||c.*3573C>T|||||3553| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 52945672 C G G|stop_gained|HIGH|SPPL2C|ENSPANG00000006582|transcript|ENSPANT00000006412.1|protein_coding|1/1|c.2037C>G|p.Tyr679*|2037/2052|2037/2052|679/683||WARNING_TRANSCRIPT_NO_STOP_CODON 1 2 2 1 0 1 0 1 0 2 1 2 0 2 1 0 0 1 1 1 0 1 1 1 1 2 1 2 1 2 1 0 1 0 0 0 1 1 2 1 1 2 1 2 1 2 2 1 1 0 0 0 1 1 1 1 0 0 0 1 2 2 1 2 2 1 0 2 1 0 2 0 2 2 0 2 2 1 2 0 0 2 1 2 0 0 0 1 2 0 0 1 2 1 1 1 2 1 1 0 16 53390708 C T T|stop_gained|HIGH|ENSPANG00000021166|ENSPANG00000021166|transcript|ENSPANT00000017727.1|protein_coding|1/22|c.13C>T|p.Gln5*|13/7780|13/4878|5/1625|| 0 0 0 0 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 16 53556701 T A A|stop_gained|HIGH|CDC27|ENSPANG00000021169|transcript|ENSPANT00000017770.1|protein_coding|6/19|c.505A>T|p.Lys169*|877/2706|505/2334|169/777|| 0 NA 0 NA 0 0 NA 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 54228528 C T T|stop_gained|HIGH|ENSPANG00000021124|ENSPANG00000021124|transcript|ENSPANT00000012980.1|protein_coding|1/2|c.25C>T|p.Gln9*|25/372|25/372|9/123||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|EFCAB3|ENSPANG00000021129|transcript|ENSPANT00000022508.1|protein_coding|8/11|c.644+2936C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 54530314 G A A|splice_acceptor_variant&intron_variant|HIGH|MRC2|ENSPANG00000021066|transcript|ENSPANT00000006081.1|protein_coding|23/29|c.3289-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|U6|ENSPANG00000010845|transcript|ENSPANT00000010958.1|snRNA||n.*2853G>A|||||2853| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 1 0 NA 0 NA 0 0 0 0 0 0 0 NA NA 0 NA 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 16 55399089 C T T|stop_gained|HIGH|KCNH6|ENSPANG00000021041|transcript|ENSPANT00000026481.1|protein_coding|10/14|c.2176C>T|p.Arg726*|2176/3166|2176/2985|726/994|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 56296589 C T T|stop_gained|HIGH|MILR1|ENSPANG00000020703|transcript|ENSPANT00000028936.1|protein_coding|4/9|c.421C>T|p.Arg141*|613/1224|421/1032|141/343|| 2 1 1 1 0 1 1 0 1 1 1 1 2 1 1 2 0 0 0 0 1 0 1 0 1 0 1 2 1 0 0 0 0 0 0 1 1 0 1 2 1 0 1 1 1 0 0 0 1 0 1 0 1 1 0 0 0 0 1 1 0 0 1 0 0 1 0 2 0 0 0 0 1 0 0 1 0 1 0 2 0 0 0 1 0 0 0 0 0 0 1 1 1 0 0 0 0 1 1 0 16 59586288 C T T|stop_gained|HIGH|ENSPANG00000020523|ENSPANG00000020523|transcript|ENSPANT00000023778.1|protein_coding|6/10|c.583C>T|p.Arg195*|583/1509|583/1509|195/502||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 16 60395492 C A A|splice_donor_variant&intron_variant|HIGH|ABCA8|ENSPANG00000020480|transcript|ENSPANT00000022343.1|protein_coding|2/38|c.301+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 60542177 G A A|stop_gained|HIGH|ABCA6|ENSPANG00000020467|transcript|ENSPANT00000021783.1|protein_coding|18/38|c.2398C>T|p.Gln800*|2519/4903|2398/4782|800/1593|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 65737052 A C C|splice_acceptor_variant&intron_variant|HIGH|GPR142|ENSPANG00000020281|transcript|ENSPANT00000022296.1|protein_coding|1/3|c.31-2A>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|ENSPANG00000027977|ENSPANG00000027977|transcript|ENSPANT00000029423.1|lincRNA||n.*1393T>G|||||1393|,C|downstream_gene_variant|MODIFIER|ENSPANG00000027977|ENSPANG00000027977|transcript|ENSPANT00000029708.1|lincRNA||n.*1393T>G|||||1393|,C|intron_variant|MODIFIER|ENSPANG00000027977|ENSPANG00000027977|transcript|ENSPANT00000030877.1|lincRNA|1/1|n.449+2040T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 16 65870416 C T T|stop_gained|HIGH|CD300A|ENSPANG00000020283|transcript|ENSPANT00000022706.1|protein_coding|7/7|c.844C>T|p.Gln282*|1558/5018|844/900|282/299|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 16 66281169 C T T|stop_gained|HIGH|OTOP2|ENSPANG00000020240|transcript|ENSPANT00000026909.1|protein_coding|6/7|c.1249C>T|p.Gln417*|1333/2135|1249/1689|417/562|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 67243482 C T T|start_lost|HIGH|WBP2|ENSPANG00000020075|transcript|ENSPANT00000022700.1|protein_coding|1/7|c.3G>A|p.Met1?|3/834|3/834|1/277|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 16 67479722 C T T|stop_gained|HIGH|ZACN|ENSPANG00000020046|transcript|ENSPANT00000025402.1|protein_coding|5/9|c.412C>T|p.Arg138*|412/1230|412/1230|138/409||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|GALR2|ENSPANG00000020045|transcript|ENSPANT00000027546.1|protein_coding||c.*2659C>T|||||2659|WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|EXOC7|ENSPANG00000020049|transcript|ENSPANT00000020412.1|protein_coding||c.*3359G>A|||||3359|,T|downstream_gene_variant|MODIFIER|EXOC7|ENSPANG00000020049|transcript|ENSPANT00000027220.2|protein_coding||c.*3092G>A|||||3092| 1 1 1 0 0 1 0 0 0 1 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 67703243 C T T|stop_gained|HIGH|QRICH2|ENSPANG00000020029|transcript|ENSPANT00000027545.1|protein_coding|3/25|c.110G>A|p.Trp37*|110/4998|110/4998|37/1665||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 71079907 C G G|stop_gained|HIGH|ENPP7|ENSPANG00000019832|transcript|ENSPANT00000010697.1|protein_coding|2/5|c.327C>G|p.Tyr109*|327/1377|327/1377|109/458|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 72681516 G A A|stop_gained|HIGH|TMEM105|ENSPANG00000019489|transcript|ENSPANT00000026636.1|protein_coding|2/2|c.166C>T|p.Gln56*|166/384|166/384|56/127||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 16 73055451 C T T|stop_gained|HIGH|CCDC137|ENSPANG00000019327|transcript|ENSPANT00000003698.1|protein_coding|6/6|c.799C>T|p.Gln267*|799/870|799/870|267/289|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 73055478 C T T|stop_gained|HIGH|CCDC137|ENSPANG00000019327|transcript|ENSPANT00000003698.1|protein_coding|6/6|c.826C>T|p.Arg276*|826/870|826/870|276/289|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 1 0 16 73606661 C A A|stop_gained|HIGH|SLC16A3|ENSPANG00000018922|transcript|ENSPANT00000018936.1|protein_coding|3/5|c.243C>A|p.Cys81*|618/1773|243/1398|81/465||,A|downstream_gene_variant|MODIFIER|ENSPANG00000013270|ENSPANG00000013270|transcript|ENSPANT00000015736.1|miRNA||n.*20C>A|||||20|,A|downstream_gene_variant|MODIFIER|CSNK1D|ENSPANG00000018853|transcript|ENSPANT00000019612.2|protein_coding||c.*3264G>T|||||3264| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 16 74104462 G A A|stop_gained|HIGH|FN3K|ENSPANG00000018744|transcript|ENSPANT00000025130.1|protein_coding|1/6|c.195G>A|p.Trp65*|195/1612|195/1500|65/499|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 16 74104649 C T T|stop_gained|HIGH|FN3K|ENSPANG00000018744|transcript|ENSPANT00000025130.1|protein_coding|1/6|c.382C>T|p.Arg128*|382/1612|382/1500|128/499|| 1 2 2 1 1 2 1 1 1 2 1 2 1 1 1 0 1 1 0 1 0 1 2 1 0 1 1 1 2 0 0 0 0 2 0 1 0 0 1 1 1 0 1 1 1 1 1 0 1 2 2 0 1 0 1 0 0 0 0 0 1 1 1 0 0 0 0 1 2 0 2 0 0 2 0 1 1 1 1 1 0 1 0 1 2 1 1 1 1 1 0 2 0 2 1 1 1 1 0 2 16 74104727 G T T|stop_gained|HIGH|FN3K|ENSPANG00000018744|transcript|ENSPANT00000025130.1|protein_coding|1/6|c.460G>T|p.Glu154*|460/1612|460/1500|154/499|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 1 0 0 NA 0 1 0 0 0 0 0 0 NA 0 0 0 1 0 0 17 913615 C T T|stop_gained|HIGH|GJA3|ENSPANG00000018279|transcript|ENSPANT00000005234.1|protein_coding|1/1|c.43C>T|p.Gln15*|43/1299|43/1299|15/432||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 1091465 C T T|stop_gained|HIGH|ENSPANG00000009317|ENSPANG00000009317|transcript|ENSPANT00000010428.1|protein_coding|1/8|c.278G>A|p.Trp93*|278/1761|278/1761|93/586|| 0 1 1 0 1 1 0 1 0 0 1 2 0 0 0 0 1 1 0 0 0 0 1 0 2 2 0 0 0 2 0 0 1 0 0 0 1 0 1 0 0 0 1 0 0 1 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 1 0 1 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 1 0 2 1 17 9938469 A T T|stop_gained|HIGH|MEDAG|ENSPANG00000021857|transcript|ENSPANT00000027423.1|protein_coding|2/5|c.391A>T|p.Lys131*|391/894|391/894|131/297|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 1 0 1 1 1 0 0 0 2 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 0 2 0 0 0 1 0 0 1 0 0 0 0 0 0 0 17 9939901 T A A|stop_gained|HIGH|MEDAG|ENSPANG00000021857|transcript|ENSPANT00000027423.1|protein_coding|3/5|c.405T>A|p.Tyr135*|405/894|405/894|135/297|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 12452654 G A A|stop_gained|HIGH|ENSPANG00000006353|ENSPANG00000006353|transcript|ENSPANT00000019850.1|protein_coding|1/1|c.418C>T|p.Arg140*|418/1101|418/1101|140/366||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 2 0 1 0 0 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 2 0 17 15004111 G A A|stop_gained|HIGH|ENSPANG00000022864|ENSPANG00000022864|transcript|ENSPANT00000025713.1|protein_coding|1/2|c.4C>T|p.Arg2*|314/1499|4/375|2/124|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 17 20030223 T G G|stop_lost&splice_region_variant|HIGH|RGCC|ENSPANG00000007573|transcript|ENSPANT00000010820.1|protein_coding|4/4|c.484T>G|p.Ter162Gluext*?|1139/1141|484/486|162/161|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 17 20030225 A T T|stop_lost&splice_region_variant|HIGH|RGCC|ENSPANG00000007573|transcript|ENSPANT00000010820.1|protein_coding|4/4|c.486A>T|p.Ter162Tyrext*?|1141/1141|486/486|162/161|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 21418820 C T T|stop_gained&splice_region_variant|HIGH|EPSTI1|ENSPANG00000012981|transcript|ENSPANT00000000594.1|protein_coding|8/10|c.689G>A|p.Trp230*|1600/5400|689/870|230/289|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 17 23731195 G A A|splice_donor_variant&intron_variant|HIGH|GTF2F2|ENSPANG00000023048|transcript|ENSPANT00000008200.1|protein_coding|6/7|c.486+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 17 24806036 G A A|splice_donor_variant&intron_variant|HIGH|RUBCNL|ENSPANG00000012223|transcript|ENSPANT00000018614.1|protein_coding|4/13|c.829+2C>T|||||| 0 1 0 1 0 1 1 1 1 0 1 1 0 0 1 0 1 0 1 0 0 1 1 1 1 2 0 0 0 1 0 0 1 0 0 0 1 0 1 1 0 0 1 2 1 0 0 0 1 0 0 0 0 2 1 0 0 0 0 0 0 1 0 1 0 NA 0 0 1 2 1 0 0 1 0 0 2 2 2 0 2 1 0 1 0 0 2 0 0 0 1 0 1 1 1 1 1 1 2 1 17 27520453 C G G|stop_gained|HIGH|MLNR|ENSPANG00000005882|transcript|ENSPANT00000025911.1|protein_coding|1/2|c.801C>G|p.Tyr267*|801/1239|801/1239|267/412|| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 28185596 C G G|stop_gained|HIGH|ENSPANG00000012862|ENSPANG00000012862|transcript|ENSPANT00000025808.1|protein_coding|1/2|c.1850C>G|p.Ser617*|1850/2325|1850/2325|617/774||WARNING_TRANSCRIPT_NO_STOP_CODON,G|upstream_gene_variant|MODIFIER|Y_RNA|ENSPANG00000011838|transcript|ENSPANT00000020524.1|misc_RNA||n.-2732G>C|||||2732| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 29299190 G A A|stop_gained|HIGH|ENSPANG00000017675|ENSPANG00000017675|transcript|ENSPANT00000025910.1|protein_coding|6/17|c.514C>T|p.Gln172*|514/1878|514/1878|172/625||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 17 30356465 G T T|stop_gained|HIGH|NEK5|ENSPANG00000005102|transcript|ENSPANT00000013289.1|protein_coding|15/19|c.1487C>A|p.Ser496*|2103/2737|1487/2121|496/706||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 17 30387278 C A A|splice_donor_variant&intron_variant|HIGH|NEK5|ENSPANG00000005102|transcript|ENSPANT00000013289.1|protein_coding|3/18|c.312+1G>T||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 17 30731634 T A A|start_lost|HIGH|SUGT1|ENSPANG00000025937|transcript|ENSPANT00000014180.1|protein_coding|1/13|c.2T>A|p.Met1?|2/1032|2/1032|1/343|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 17 49618470 C T T|stop_gained|HIGH|ENSPANG00000014125|ENSPANG00000014125|transcript|ENSPANT00000016174.1|protein_coding|2/2|c.568C>T|p.Arg190*|568/945|568/945|190/314|| 1 0 1 1 1 0 1 1 1 1 1 0 1 0 1 1 0 0 0 0 0 0 1 0 1 0 1 0 1 1 1 1 0 1 0 1 0 2 1 1 0 1 0 1 NA 1 1 0 0 1 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 1 0 1 1 0 0 0 1 0 0 0 0 1 1 1 0 0 1 0 1 1 NA 0 0 1 0 1 1 0 0 1 0 1 17 69172579 T C C|stop_lost|HIGH|ENSPANG00000004995|ENSPANG00000004995|transcript|ENSPANT00000013941.1|protein_coding|4/4|c.1024T>C|p.Ter342Glnext*?|1547/2043|1024/1026|342/341|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 2 0 0 1 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 17 79979634 G A A|stop_gained|HIGH|METTL21C|ENSPANG00000004347|transcript|ENSPANT00000006155.1|protein_coding|1/4|c.16C>T|p.Arg6*|16/1359|16/855|6/284|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 17 88951794 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000027628|ENSPANG00000027628|transcript|ENSPANT00000029381.1|lincRNA|2/2|n.272+1G>A||||||,A|downstream_gene_variant|MODIFIER|ENSPANG00000009383|ENSPANG00000009383|transcript|ENSPANT00000021146.1|protein_coding||c.*3566G>A|||||3322|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 89835515 T C C|start_lost|HIGH|F10|ENSPANG00000000902|transcript|ENSPANT00000001329.1|protein_coding|1/7|c.2T>C|p.Met1?|182/1773|2/1593|1/530||,C|intron_variant|MODIFIER|F10|ENSPANG00000000902|transcript|ENSPANT00000018105.1|protein_coding|1/7|c.65-195T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 17 89879983 G A A|stop_gained|HIGH|PROZ|ENSPANG00000004418|transcript|ENSPANT00000005835.1|protein_coding|6/9|c.570G>A|p.Trp190*|570/1170|570/1170|190/389|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 17 90126235 A G G|stop_lost|HIGH|ADPRHL1|ENSPANG00000008250|transcript|ENSPANT00000008018.1|protein_coding|9/9|c.1168T>C|p.Ter390Argext*?|1168/2368|1168/1170|390/389||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 1 1 1 1 1 1 0 0 0 0 0 2 0 2 0 0 0 0 1 0 1 0 0 2 2 2 0 0 0 0 0 0 0 2 0 0 0 0 1 1 1 0 0 1 0 0 0 1 0 0 0 1 0 0 1 0 2 0 0 0 1 0 2 0 2 1 0 1 0 1 1 2 1 0 0 0 2 1 0 0 0 0 1 0 0 18 981929 G A A|splice_donor_variant&intron_variant|HIGH|PTPN2|ENSPANG00000012298|transcript|ENSPANT00000006509.1|protein_coding|2/9|c.65+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 1187211 C T T|stop_gained&splice_region_variant|HIGH|ENSPANG00000026396|ENSPANG00000026396|transcript|ENSPANT00000014549.1|protein_coding|2/3|c.86G>A|p.Trp29*|86/141|86/141|29/46||WARNING_TRANSCRIPT_NO_START_CODON,T|5_prime_UTR_variant|MODIFIER|SPIRE1|ENSPANG00000011825|transcript|ENSPANT00000014450.1|protein_coding|1/17|c.-481C>T|||||481| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 1851759 T G G|splice_acceptor_variant&intron_variant|HIGH|PIEZO2|ENSPANG00000012600|transcript|ENSPANT00000021328.1|protein_coding|7/53|c.1052-2A>C||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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0 0 0 0 0 0 0 1 1 1 0 0 NA 0 1 0 0 0 1 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 1 0 0 1 0 0 1 0 0 0 0 1 0 0 0 18 14506333 T A A|splice_donor_variant&intron_variant|HIGH|CTAGE1|ENSPANG00000021861|transcript|ENSPANT00000006436.1|protein_coding|3/3|c.2346+2A>T||||||,A|upstream_gene_variant|MODIFIER|ENSPANG00000008171|ENSPANG00000008171|transcript|ENSPANT00000007592.1|protein_coding||c.-2015A>T|||||2015|WARNING_TRANSCRIPT_NO_START_CODON 1 0 0 1 0 0 1 0 1 0 0 0 0 1 1 0 0 NA 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 0 0 18 14506479 G A 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T|stop_gained|HIGH|CABYR|ENSPANG00000007685|transcript|ENSPANT00000004606.1|protein_coding|4/5|c.1285G>T|p.Glu429*|1330/2123|1285/1464|429/487|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 18 18325418 A G G|splice_acceptor_variant&intron_variant|HIGH|TAF4B|ENSPANG00000008355|transcript|ENSPANT00000019295.1|protein_coding|9/14|c.1836-2A>G|||||| 1 0 1 1 0 1 1 1 1 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 NA NA NA 2 1 0 2 0 0 0 0 0 1 NA 0 1 1 0 0 1 1 1 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 1 1 1 0 1 1 0 0 0 0 0 1 0 0 0 0 0 1 1 1 0 0 0 1 NA 0 0 0 0 0 18 19189024 C T T|start_lost|HIGH|CHST9|ENSPANG00000020899|transcript|ENSPANT00000013791.1|protein_coding|2/6|c.3G>A|p.Met1?|332/1664|3/1335|1/444|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 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A|stop_gained|HIGH|TMSB10|ENSPANG00000005663|transcript|ENSPANT00000012380.1|protein_coding|1/1|c.106C>T|p.Gln36*|106/129|106/129|36/42||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 1 0 0 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 18 40488600 A G G|stop_lost&splice_region_variant|HIGH|ENSPANG00000020949|ENSPANG00000020949|transcript|ENSPANT00000028815.1|protein_coding|3/3|c.718T>C|p.Ter240Glnext*?|718/720|718/720|240/239|| 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 1 NA 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 NA 0 1 0 0 0 0 0 0 2 0 0 0 NA 0 0 0 1 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 1 1 0 0 0 0 NA 1 0 18 40668525 G A A|splice_donor_variant&intron_variant|HIGH|CTIF|ENSPANG00000017087|transcript|ENSPANT00000026658.1|protein_coding|3/12|c.228+1G>A||||||,A|intron_variant|MODIFIER|CTIF|ENSPANG00000017087|transcript|ENSPANT00000008462.2|protein_coding|2/11|c.180+5907G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 18 49834162 T C C|start_lost|HIGH|NARS|ENSPANG00000019006|transcript|ENSPANT00000005082.1|protein_coding|1/14|c.1A>G|p.Met1?|201/6032|1/1677|1/558|| 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 2 0 0 1 1 1 0 0 0 0 1 0 0 0 2 0 0 0 0 1 1 0 0 0 1 0 0 1 1 1 1 0 0 0 0 1 0 1 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 2 0 1 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 1 0 1 1 18 51290507 G A A|stop_gained|HIGH|ENSPANG00000017577|ENSPANG00000017577|transcript|ENSPANT00000019322.1|protein_coding|13/15|c.1755G>A|p.Trp585*|1937/5834|1755/2070|585/689|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 51463467 A G G|splice_acceptor_variant&intron_variant|HIGH|GRP|ENSPANG00000012397|transcript|ENSPANT00000004081.1|protein_coding|2/2|c.364-2A>G|||||| 1 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 52888564 C T T|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000012688|ENSPANG00000012688|transcript|ENSPANT00000005776.1|protein_coding|3/7|c.513+2C>T||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 1 0 1 0 1 0 0 1 2 0 0 0 1 1 2 0 1 1 0 1 1 2 1 2 1 2 0 0 1 2 0 0 2 1 1 1 1 2 1 1 1 1 1 1 1 0 2 0 1 1 1 2 1 0 0 2 1 0 1 2 1 0 0 0 1 1 0 0 0 0 1 1 0 0 1 0 0 1 0 2 1 0 1 1 2 0 0 1 1 1 0 1 1 1 1 18 52888850 T G G|stop_gained|HIGH|ENSPANG00000012688|ENSPANG00000012688|transcript|ENSPANT00000005776.1|protein_coding|6/8|c.791T>G|p.Leu264*|791/1257|791/1257|264/418||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 52889019 C T T|stop_gained|HIGH|ENSPANG00000012688|ENSPANG00000012688|transcript|ENSPANT00000005776.1|protein_coding|8/8|c.946C>T|p.Arg316*|946/1257|946/1257|316/418||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 1 1 0 0 0 2 1 1 0 1 0 0 1 1 0 0 1 1 0 0 1 1 0 1 1 0 0 1 1 0 1 0 1 1 1 1 1 0 0 2 1 0 0 1 1 0 0 0 1 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 1 0 1 1 1 0 0 0 0 0 0 0 1 1 1 18 56164262 C T T|stop_gained&splice_region_variant|HIGH|SERPINB10|ENSPANG00000009799|transcript|ENSPANT00000007415.1|protein_coding|6/7|c.787C>T|p.Gln263*|796/2513|787/1194|263/397||,T|downstream_gene_variant|MODIFIER|ENSPANG00000013139|ENSPANG00000013139|transcript|ENSPANT00000020594.1|protein_coding||c.*1558G>A|||||1558|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 62367850 G C C|stop_gained|HIGH|RTTN|ENSPANG00000005969|transcript|ENSPANT00000017592.1|protein_coding|32/55|c.3933C>G|p.Tyr1311*|3933/6681|3933/6681|1311/2226|| 1 1 2 2 1 2 2 1 2 2 1 0 0 1 0 0 2 0 0 1 0 1 1 1 1 2 1 1 1 1 2 1 1 0 0 0 1 2 0 0 1 0 1 2 1 0 0 0 0 1 1 2 0 1 0 2 1 2 0 2 0 2 1 1 1 1 2 1 1 0 0 0 1 1 1 0 0 0 1 0 0 1 1 1 0 1 0 1 0 2 1 0 1 2 1 0 0 0 0 0 18 62372182 A C 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1 18 68951454 A T T|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ENSPANG00000025279|ENSPANG00000025279|transcript|ENSPANT00000005098.1|protein_coding|1/2|c.90+2T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 18 71877892 T A A|stop_gained|HIGH|HSBP1L1|ENSPANG00000011076|transcript|ENSPANT00000011171.1|protein_coding|3/3|c.149T>A|p.Leu50*|149/219|149/219|50/72||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 19 111698 C A A|stop_gained|HIGH|THEG|ENSPANG00000009831|transcript|ENSPANT00000009019.1|protein_coding|1/8|c.217G>T|p.Glu73*|217/1291|217/1152|73/383|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 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A|stop_gained|HIGH|APC2|ENSPANG00000000209|transcript|ENSPANT00000020811.1|protein_coding|1/15|c.86C>A|p.Ser29*|355/7481|86/7212|29/2403||,A|intron_variant|MODIFIER|APC2|ENSPANG00000000209|transcript|ENSPANT00000020812.2|protein_coding|1/15|c.-18-2820C>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 19 1960995 C G G|splice_donor_variant&intron_variant|HIGH|MOB3A|ENSPANG00000019262|transcript|ENSPANT00000006236.1|protein_coding|1/3|c.-122+1G>C||||||,G|intron_variant|MODIFIER|DOT1L|ENSPANG00000012743|transcript|ENSPANT00000003155.1|protein_coding|1/28|c.81+935C>G||||||,G|intron_variant|MODIFIER|DOT1L|ENSPANG00000012743|transcript|ENSPANT00000003150.2|protein_coding|1/27|c.81+935C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 NA 0 NA 0 0 0 NA 0 NA 0 0 0 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 1 1 1 0 0 0 19 2023960 C T T|splice_donor_variant&intron_variant|HIGH|DOT1L|ENSPANG00000012743|transcript|ENSPANT00000003155.1|protein_coding|25/28|c.3596+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|DOT1L|ENSPANG00000012743|transcript|ENSPANT00000003150.2|protein_coding|25/27|c.3596+2C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 1 0 0 1 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 2053055 C A 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T|splice_donor_variant&intron_variant|HIGH|SGTA|ENSPANG00000006535|transcript|ENSPANT00000000277.1|protein_coding|11/11|c.*6+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 19 2718431 G A A|stop_gained|HIGH|ZNF77|ENSPANG00000020667|transcript|ENSPANT00000012198.1|protein_coding|5/5|c.1615C>T|p.Arg539*|1615/1668|1615/1668|539/555||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 19 2718557 G A A|stop_gained|HIGH|ZNF77|ENSPANG00000020667|transcript|ENSPANT00000012198.1|protein_coding|4/5|c.1567C>T|p.Gln523*|1567/1668|1567/1668|523/555||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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T|splice_donor_variant&intron_variant|HIGH|STAP2|ENSPANG00000012127|transcript|ENSPANT00000027824.1|protein_coding|6/11|c.891+1G>A||||||,T|3_prime_UTR_variant|MODIFIER|FSD1|ENSPANG00000019255|transcript|ENSPANT00000005067.1|protein_coding|13/13|c.*3364C>T|||||3364| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 19 4165103 G A A|stop_gained|HIGH|SH3GL1|ENSPANG00000014012|transcript|ENSPANT00000018408.1|protein_coding|1/10|c.34C>T|p.Arg12*|34/6023|34/1107|12/368||,A|intron_variant|MODIFIER|SH3GL1|ENSPANG00000014012|transcript|ENSPANT00000007598.2|protein_coding|1/9|c.46-454C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 1 0 0 0 0 1 0 0 0 1 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 1 0 0 0 0 1 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 4358679 A T T|stop_gained|HIGH|SEMA6B|ENSPANG00000014342|transcript|ENSPANT00000001604.1|protein_coding|12/23|c.900T>A|p.Tyr300*|1655/3146|900/2391|300/796|| 0 0 NA 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 1 1 0 1 1 1 0 2 0 1 1 1 0 2 0 0 0 0 0 1 NA 0 1 1 2 1 NA 2 NA 0 1 0 0 NA 0 0 0 1 0 1 0 1 1 2 1 0 2 1 2 1 2 0 2 0 1 NA 0 0 1 1 2 0 0 0 0 0 1 0 1 1 0 2 0 1 1 0 0 0 1 1 1 0 19 4630261 T C C|splice_acceptor_variant&intron_variant|HIGH|PLIN3|ENSPANG00000020753|transcript|ENSPANT00000007597.1|protein_coding|3/13|c.569-2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON 2 2 2 2 2 1 1 1 2 1 1 1 1 0 2 2 0 1 1 1 1 2 1 1 1 0 2 1 1 1 2 1 0 0 2 1 1 1 2 2 0 1 2 1 1 0 1 2 1 0 1 2 1 1 0 2 1 2 2 0 0 1 1 2 0 0 1 1 2 2 0 1 1 2 1 2 0 2 1 2 1 1 2 1 0 2 1 2 1 2 0 2 1 1 1 1 1 1 0 2 19 5548537 G A A|stop_gained|HIGH|DUS3L|ENSPANG00000015039|transcript|ENSPANT00000016536.1|protein_coding|6/9|c.832C>T|p.Arg278*|832/1263|832/1263|278/420||,A|upstream_gene_variant|MODIFIER|PRR22|ENSPANG00000007769|transcript|ENSPANT00000007126.1|protein_coding||c.-1187C>T|||||1187|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 19 5631297 A T T|start_lost|HIGH|FUT6|ENSPANG00000012357|transcript|ENSPANT00000011340.1|protein_coding|1/1|c.2T>A|p.Met1?|2/1119|2/1119|1/372|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 19 6136866 G A A|stop_gained|HIGH|PSPN|ENSPANG00000005036|transcript|ENSPANT00000006138.1|protein_coding|1/2|c.88C>T|p.Gln30*|88/2451|88/618|30/205||,A|3_prime_UTR_variant|MODIFIER|ALKBH7|ENSPANG00000008106|transcript|ENSPANT00000016534.1|protein_coding|4/4|c.*932G>A|||||932|,A|downstream_gene_variant|MODIFIER|CLPP|ENSPANG00000003085|transcript|ENSPANT00000016535.1|protein_coding||c.*6650G>A|||||4350|,A|downstream_gene_variant|MODIFIER|GTF2F1|ENSPANG00000000102|transcript|ENSPANT00000021797.1|protein_coding||c.*4741C>T|||||4730| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 1 0 1 2 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 2 1 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 19 6142487 G A A|splice_donor_variant&intron_variant|HIGH|GTF2F1|ENSPANG00000000102|transcript|ENSPANT00000021797.1|protein_coding|13/16|c.928+2C>T||||||,A|downstream_gene_variant|MODIFIER|ALKBH7|ENSPANG00000008106|transcript|ENSPANT00000016534.1|protein_coding||c.*6553G>A|||||1853| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 19 6146676 G A A|splice_donor_variant&intron_variant|HIGH|GTF2F1|ENSPANG00000000102|transcript|ENSPANT00000021797.1|protein_coding|7/16|c.561+1C>T||||||,A|downstream_gene_variant|MODIFIER|ENSPANG00000005839|ENSPANG00000005839|transcript|ENSPANT00000021111.1|miRNA||n.*4411C>T|||||4411| 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 1 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 19 6673855 G T T|stop_gained|HIGH|ADGRE1|ENSPANG00000000239|transcript|ENSPANT00000008921.1|protein_coding|16/25|c.1564G>T|p.Glu522*|1564/4715|1564/2544|522/847|| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 19 6744062 T C C|splice_donor_variant&intron_variant|HIGH|ZNF557|ENSPANG00000023329|transcript|ENSPANT00000022076.1|protein_coding|5/6|c.472+2T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 7455992 G A A|stop_gained|HIGH|LRRC8E|ENSPANG00000013864|transcript|ENSPANT00000002191.1|protein_coding|2/3|c.37C>T|p.Gln13*|121/4252|37/2391|13/796||,A|downstream_gene_variant|MODIFIER|ENSPANG00000026419|ENSPANG00000026419|transcript|ENSPANT00000020387.1|protein_coding||c.*4360G>A|||||4360|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 2 0 1 0 0 1 1 0 2 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 1 2 2 0 0 1 0 0 0 0 0 1 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 1 0 1 0 1 0 1 0 2 0 2 1 0 1 0 0 0 0 0 0 0 1 2 1 0 0 0 0 0 1 1 19 8005943 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000013775|ENSPANG00000013775|transcript|ENSPANT00000016531.1|protein_coding|16/28|c.1676+2G>A|||||| 1 1 0 1 2 0 1 0 2 1 1 2 2 2 1 1 2 2 0 2 2 1 2 1 1 2 2 1 1 2 0 1 1 1 0 1 1 1 2 1 1 2 0 1 0 2 2 1 1 2 1 0 0 2 0 2 1 1 2 1 2 1 2 1 2 2 1 2 2 2 2 2 1 1 1 1 1 2 2 2 1 2 1 2 2 0 0 1 2 2 0 2 1 1 2 1 0 1 0 0 19 8236151 C T T|stop_gained|HIGH|OR7E24|ENSPANG00000001703|transcript|ENSPANT00000013517.1|protein_coding|1/1|c.121C>T|p.Gln41*|121/1014|121/1014|41/337||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 19 8236478 C T T|stop_gained|HIGH|OR7E24|ENSPANG00000001703|transcript|ENSPANT00000013517.1|protein_coding|1/1|c.448C>T|p.Arg150*|448/1014|448/1014|150/337||WARNING_TRANSCRIPT_NO_START_CODON 1 1 1 1 0 1 1 1 0 1 1 1 0 0 0 1 0 0 0 1 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 1 0 0 NA 0 1 NA 1 1 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 19 8682245 T C C|splice_acceptor_variant&intron_variant|HIGH|ZNF846|ENSPANG00000019477|transcript|ENSPANT00000006329.1|protein_coding|2/4|c.143-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 2 0 0 2 0 0 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T|stop_gained|HIGH|ADGRE3|ENSPANG00000019561|transcript|ENSPANT00000019799.1|protein_coding|12/16|c.1515G>A|p.Trp505*|1780/2218|1515/1953|505/650|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 19 13544451 C A A|stop_gained|HIGH|ADGRE2|ENSPANG00000011401|transcript|ENSPANT00000025544.1|protein_coding|12/19|c.1270G>T|p.Glu424*|1414/2601|1270/2457|424/818||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 19 13597629 C T T|stop_gained|HIGH|ENSPANG00000008166|ENSPANG00000008166|transcript|ENSPANT00000011496.1|protein_coding|1/1|c.447G>A|p.Trp149*|447/930|447/930|149/309||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 2 1 2 1 0 0 1 0 1 0 0 0 0 0 1 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0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 19 14401461 T A A|splice_donor_variant&intron_variant|HIGH|CYP4F12|ENSPANG00000012121|transcript|ENSPANT00000008078.1|protein_coding|13/13|c.1559+2T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,A|intron_variant|MODIFIER|CYP4F12|ENSPANG00000012121|transcript|ENSPANT00000004893.2|protein_coding|4/12|c.397+12191T>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 14482599 G A A|stop_gained|HIGH|ENSPANG00000005368|ENSPANG00000005368|transcript|ENSPANT00000010769.1|protein_coding|1/8|c.86G>A|p.Trp29*|568/2853|86/1119|29/372|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 1 0 0 1 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 1 1 0 0 1 0 0 1 1 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 19 14485203 C T T|stop_gained|HIGH|ENSPANG00000005368|ENSPANG00000005368|transcript|ENSPANT00000010769.1|protein_coding|2/8|c.235C>T|p.Gln79*|717/2853|235/1119|79/372|| 1 1 1 1 0 1 1 1 0 1 1 2 0 1 1 0 0 0 2 0 1 1 0 2 0 1 0 1 0 0 0 1 2 0 0 0 0 1 0 0 1 1 2 0 0 1 0 1 0 0 1 1 1 1 2 0 0 1 1 0 0 2 1 0 0 0 1 1 2 1 0 1 0 0 2 1 2 0 1 0 1 0 1 1 0 2 0 1 1 1 0 0 0 0 1 0 2 0 0 0 19 14487410 A G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000005368|ENSPANG00000005368|transcript|ENSPANT00000010769.1|protein_coding|3/7|c.398-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 19 14559393 A T T|stop_lost|HIGH|CYP4F2|ENSPANG00000012375|transcript|ENSPANT00000020857.1|protein_coding|13/13|c.1561T>A|p.Ter521Argext*?|1614/2438|1561/1563|521/520||,T|splice_donor_variant&intron_variant|HIGH|CYP4F2|ENSPANG00000012375|transcript|ENSPANT00000028745.2|protein_coding|13/13|c.1559+2T>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000003415|ENSPANG00000003415|transcript|ENSPANT00000019383.1|miRNA||n.-1754A>T|||||1754| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA NA 0 0 0 0 0 19 14600777 C T T|stop_gained|HIGH|ENSPANG00000014188|ENSPANG00000014188|transcript|ENSPANT00000010577.1|protein_coding|7/12|c.981G>A|p.Trp327*|1437/2037|981/1581|327/526|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 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T|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000013606|ENSPANG00000013606|transcript|ENSPANT00000003229.1|protein_coding|8/14|c.763-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON,T|upstream_gene_variant|MODIFIER|ENSPANG00000007893|ENSPANG00000007893|transcript|ENSPANT00000003230.1|pseudogene||n.-3771C>T|||||3771|,T|downstream_gene_variant|MODIFIER|EGLN2|ENSPANG00000007894|transcript|ENSPANT00000017735.1|protein_coding||c.*2189C>T|||||2189| 1 1 1 1 1 1 1 1 1 1 1 0 1 0 1 1 0 0 0 1 1 1 0 1 1 0 1 0 0 0 1 0 0 0 1 1 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 1 0 0 0 1 1 1 1 1 0 1 1 0 0 0 1 0 0 0 0 0 1 0 1 0 0 1 0 1 0 0 1 1 0 1 1 0 0 1 0 1 0 1 0 0 0 0 0 0 19 35219366 C A A|stop_gained|HIGH|ENSPANG00000005923|ENSPANG00000005923|transcript|ENSPANT00000012925.2|protein_coding|8/9|c.1255G>T|p.Glu419*|1255/1485|1255/1485|419/494||,A|stop_gained|HIGH|ENSPANG00000005923|ENSPANG00000005923|transcript|ENSPANT00000003234.1|protein_coding|8/9|c.1264G>T|p.Glu422*|1264/1494|1264/1494|422/497|| 0 0 0 0 0 0 0 0 0 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G|stop_gained|HIGH|CRX|ENSPANG00000010183|transcript|ENSPANT00000022627.1|protein_coding|1/7|c.27C>G|p.Tyr9*|27/930|27/930|9/309||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 1 0 0 0 0 1 0 0 0 0 0 1 0 2 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 19 41343594 C T T|start_lost|HIGH|PLA2G4C|ENSPANG00000002963|transcript|ENSPANT00000005158.1|protein_coding|2/14|c.3G>A|p.Met1?|111/4671|3/1299|1/432|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 19 41343595 A G G|start_lost|HIGH|PLA2G4C|ENSPANG00000002963|transcript|ENSPANT00000005158.1|protein_coding|2/14|c.2T>C|p.Met1?|110/4671|2/1299|1/432|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 0 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46283043 C T T|stop_gained|HIGH|ENSPANG00000007549|ENSPANG00000007549|transcript|ENSPANT00000022071.1|protein_coding|4/4|c.2314C>T|p.Gln772*|2314/2574|2314/2574|772/857|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 19 46343993 C G G|stop_gained|HIGH|ENSPANG00000008963|ENSPANG00000008963|transcript|ENSPANT00000010614.1|protein_coding|3/3|c.2169C>G|p.Tyr723*|2242/3205|2169/3132|723/1043||,G|intron_variant|MODIFIER|ENSPANG00000010431|ENSPANG00000010431|transcript|ENSPANT00000029224.1|protein_coding|1/2|c.16-25341C>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 19 46470621 G T T|stop_gained|HIGH|ZNF813|ENSPANG00000021544|transcript|ENSPANT00000013350.1|protein_coding|4/4|c.1525G>T|p.Glu509*|1525/1545|1525/1545|509/514||WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|ENSPANG00000020380|ENSPANG00000020380|transcript|ENSPANT00000010618.1|protein_coding||c.*7700G>T|||||3908| 1 0 1 1 0 0 1 1 1 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 19 46785267 G A A|stop_gained|HIGH|NLRP12|ENSPANG00000009037|transcript|ENSPANT00000020998.1|protein_coding|9/10|c.3049C>T|p.Arg1017*|3257/6728|3049/3189|1017/1062|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 NA 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47048976 C A A|start_lost|HIGH|TARM1|ENSPANG00000016444|transcript|ENSPANT00000003666.1|protein_coding|1/4|c.3G>T|p.Met1?|555/3213|3/795|1/264|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47218643 A G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|13/13|c.1773+2T>C||||||,G|downstream_gene_variant|MODIFIER|LILRB5|ENSPANG00000004008|transcript|ENSPANT00000014497.1|protein_coding||c.*2972T>C|||||2487| 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 1 NA NA 0 0 0 0 0 1 NA 0 0 0 1 1 0 0 0 0 0 0 1 0 1 0 1 NA 1 0 1 0 0 1 0 1 1 0 0 0 0 NA 1 1 0 0 0 0 1 1 0 0 1 NA 0 0 0 0 NA 0 0 0 1 0 0 0 1 1 1 0 0 0 0 0 1 NA 0 1 0 1 19 47218772 T C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|12/13|c.1648-2A>G||||||,C|downstream_gene_variant|MODIFIER|LILRB5|ENSPANG00000004008|transcript|ENSPANT00000014497.1|protein_coding||c.*2843A>G|||||2358| 0 0 0 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47223683 G A A|stop_gained|HIGH|LILRB5|ENSPANG00000004008|transcript|ENSPANT00000014497.1|protein_coding|5/9|c.610C>T|p.Gln204*|889/2138|610/1374|204/457||,A|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|11/13|c.1595-3976C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 1 0 0 NA NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47249896 C T T|stop_gained|HIGH|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000023698.1|protein_coding|6/14|c.1118G>A|p.Trp373*|1118/3296|1118/1956|373/651||,T|upstream_gene_variant|MODIFIER|ENSPANG00000019026|ENSPANG00000019026|transcript|ENSPANT00000021606.1|miRNA||n.-3719C>T|||||3719|,T|downstream_gene_variant|MODIFIER|ENSPANG00000028183|ENSPANG00000028183|transcript|ENSPANT00000029387.1|lincRNA||n.*3517G>A|||||3517|,T|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|6/13|c.1259-458G>A|||||| 1 0 1 0 0 0 1 1 1 NA NA 2 0 NA 1 1 2 NA 0 0 1 NA 1 1 1 1 NA 1 1 1 1 NA 1 1 2 2 NA 0 0 1 1 1 1 0 2 NA 0 0 1 0 NA 1 NA NA 0 NA 0 0 1 0 1 1 0 1 2 1 0 1 0 1 0 2 0 1 NA 2 1 2 2 1 0 0 1 0 1 1 1 NA NA NA 2 1 1 0 NA NA 0 0 0 1 19 47263464 G A A|stop_gained|HIGH|ENSPANG00000012100|ENSPANG00000012100|transcript|ENSPANT00000017047.1|protein_coding|3/7|c.319C>T|p.Arg107*|319/1334|319/1293|107/430||,A|intron_variant|MODIFIER|ENSPANG00000028183|ENSPANG00000028183|transcript|ENSPANT00000029387.1|lincRNA|1/1|n.676-9754C>T||||||,A|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|6/13|c.1259-14026C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47263536 G A A|stop_gained|HIGH|ENSPANG00000012100|ENSPANG00000012100|transcript|ENSPANT00000017047.1|protein_coding|3/7|c.247C>T|p.Gln83*|247/1334|247/1293|83/430||,A|intron_variant|MODIFIER|ENSPANG00000028183|ENSPANG00000028183|transcript|ENSPANT00000029387.1|lincRNA|1/1|n.676-9826C>T||||||,A|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|6/13|c.1259-14098C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47307957 T C C|start_lost|HIGH|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000027464.1|protein_coding|2/10|c.1A>G|p.Met1?|494/1984|1/1491|1/496||,C|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|3/13|c.356-859A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47320462 C G G|splice_donor_variant&intron_variant|HIGH|LILRA5|ENSPANG00000012247|transcript|ENSPANT00000003665.1|protein_coding|7/7|c.763+1G>C||||||,G|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|3/13|c.356-13364G>C||||||,G|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000027464.1|protein_coding|1/9|c.-49+5524G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47325988 T C C|start_lost&splice_region_variant|HIGH|LILRA5|ENSPANG00000012247|transcript|ENSPANT00000003665.1|protein_coding|2/8|c.1A>G|p.Met1?|380/2428|1/900|1/299||,C|splice_region_variant|LOW|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000027464.1|protein_coding|1/10|c.-51A>G||||||,C|5_prime_UTR_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000027464.1|protein_coding|1/10|c.-51A>G|||||18031|,C|intron_variant|MODIFIER|ENSPANG00000017572|ENSPANG00000017572|transcript|ENSPANT00000003432.2|protein_coding|3/13|c.356-18890A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 NA 19 47370344 C G G|splice_donor_variant&intron_variant|HIGH|LAIR1|ENSPANG00000021900|transcript|ENSPANT00000006326.1|protein_coding|2/9|c.70+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47427740 T G G|splice_donor_variant&intron_variant|HIGH|TTYH1|ENSPANG00000003763|transcript|ENSPANT00000016928.1|protein_coding|1/11|c.50+2T>G|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 19 47470595 C A A|stop_gained|HIGH|ENSPANG00000005787|ENSPANG00000005787|transcript|ENSPANT00000016954.1|protein_coding|1/1|c.709G>T|p.Glu237*|709/714|709/714|237/237||,A|3_prime_UTR_variant|MODIFIER|LENG8|ENSPANG00000003867|transcript|ENSPANT00000001243.1|protein_coding|15/15|c.*1880C>A|||||1880|,A|downstream_gene_variant|MODIFIER|CDC42EP5|ENSPANG00000024847|transcript|ENSPANT00000016956.1|protein_coding||c.*2170G>T|||||2170| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 47559758 C T T|stop_gained|HIGH|ENSPANG00000012788|ENSPANG00000012788|transcript|ENSPANT00000001242.1|protein_coding|3/9|c.310C>T|p.Gln104*|332/1399|310/1377|104/458|| 0 1 1 0 1 0 0 0 1 1 0 0 1 0 0 0 0 1 0 1 0 0 1 0 0 1 0 1 0 1 1 2 0 0 0 0 0 0 1 0 1 0 1 0 1 0 0 1 0 0 0 2 1 0 0 1 0 1 0 1 1 1 0 0 0 1 2 1 1 1 2 1 0 2 1 1 0 0 2 0 1 0 0 0 0 1 0 0 0 1 0 1 0 1 1 1 0 0 1 1 19 47563176 G A A|stop_gained|HIGH|ENSPANG00000012788|ENSPANG00000012788|transcript|ENSPANT00000001242.1|protein_coding|5/9|c.917G>A|p.Trp306*|939/1399|917/1377|306/458|| 1 NA 0 1 0 1 1 1 0 0 0 1 0 0 1 1 0 0 0 0 1 1 0 0 1 0 0 1 0 0 1 0 1 0 1 0 1 1 0 1 0 1 0 2 0 1 1 1 1 1 0 0 0 1 0 1 1 1 0 0 1 0 1 1 0 1 0 1 0 0 0 1 1 0 0 1 0 1 0 1 0 0 1 1 0 1 1 0 0 0 1 0 0 1 0 0 0 0 0 0 19 47593364 T A A|stop_gained|HIGH|ENSPANG00000022675|ENSPANG00000022675|transcript|ENSPANT00000022072.1|protein_coding|4/14|c.243T>A|p.Tyr81*|778/3079|243/1848|81/615||,A|upstream_gene_variant|MODIFIER|ENSPANG00000003713|ENSPANG00000003713|transcript|ENSPANT00000023936.1|miRNA||n.-2131A>T|||||2131|,A|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000029097|ENSPANG00000029097|transcript|ENSPANT00000030139.1|lincRNA|2/2|n.1218A>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 NA 0 1 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 1 0 19 47593498 C G G|stop_gained|HIGH|ENSPANG00000022675|ENSPANG00000022675|transcript|ENSPANT00000022072.1|protein_coding|4/14|c.377C>G|p.Ser126*|912/3079|377/1848|126/615||,G|upstream_gene_variant|MODIFIER|ENSPANG00000003713|ENSPANG00000003713|transcript|ENSPANT00000023936.1|miRNA||n.-2265G>C|||||2265|,G|non_coding_transcript_exon_variant|MODIFIER|ENSPANG00000029097|ENSPANG00000029097|transcript|ENSPANT00000030139.1|lincRNA|2/2|n.1084G>C|||||| 0 1 1 0 1 0 0 0 1 1 0 1 0 0 0 0 NA NA 0 0 0 0 1 1 0 2 0 1 1 1 1 0 0 0 NA NA 0 0 NA 0 0 0 2 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 1 2 0 2 0 0 2 0 0 2 0 2 0 0 NA 0 0 0 0 0 0 0 0 0 1 1 1 0 1 1 0 2 0 19 47670911 G A A|stop_gained|HIGH|ENSPANG00000009163|ENSPANG00000009163|transcript|ENSPANT00000029122.1|protein_coding|4/8|c.527G>A|p.Trp176*|666/1642|527/1503|176/500|| 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 19 47706119 T C C|stop_lost&splice_region_variant|HIGH|KIR3DL3|ENSPANG00000002646|transcript|ENSPANT00000026279.1|protein_coding|9/9|c.1426T>C|p.Ter476Argext*?|1426/1428|1426/1428|476/475||,C|upstream_gene_variant|MODIFIER|ENSPANG00000000222|ENSPANG00000000222|transcript|ENSPANT00000021135.1|protein_coding||c.-2703T>C|||||2703|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 19 47708823 T C C|start_lost|HIGH|ENSPANG00000000222|ENSPANG00000000222|transcript|ENSPANT00000021135.1|protein_coding|1/12|c.2T>C|p.Met1?|2/1278|2/1278|1/425||WARNING_TRANSCRIPT_NO_STOP_CODON,C|downstream_gene_variant|MODIFIER|KIR3DL3|ENSPANG00000002646|transcript|ENSPANT00000026279.1|protein_coding||c.*2702T>C|||||2702| 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 19 47712083 T C C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000000222|ENSPANG00000000222|transcript|ENSPANT00000021135.1|protein_coding|3/11|c.126+1T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 1 0 0 1 0 1 1 1 0 0 0 0 1 1 0 0 0 1 0 1 0 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 2 0 1 2 0 0 0 1 0 0 0 1 0 0 0 1 0 1 1 0 0 2 0 1 0 0 2 0 1 0 NA 0 1 0 0 0 0 0 2 0 0 0 0 1 1 0 0 0 0 2 0 1 0 1 1 0 0 0 NA 0 19 47712208 T C C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ENSPANG00000000222|ENSPANG00000000222|transcript|ENSPANT00000021135.1|protein_coding|4/11|c.250-1T>C||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 NA 0 NA 0 19 47753213 G C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000016636|ENSPANG00000016636|transcript|ENSPANT00000022986.1|protein_coding|6/8|c.812-1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000016636|ENSPANG00000016636|transcript|ENSPANT00000016484.2|protein_coding|6/7|c.806-1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 NA 0 NA 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 NA 0 0 0 0 NA 0 0 0 0 0 NA 0 NA 0 0 NA NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 19 47753536 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000016636|ENSPANG00000016636|transcript|ENSPANT00000022986.1|protein_coding|8/8|c.1034+1C>T||||||WARNING_TRANSCRIPT_NO_START_CODON,T|synonymous_variant|LOW|ENSPANG00000016636|ENSPANG00000016636|transcript|ENSPANT00000016484.2|protein_coding|8/8|c.1029C>T|p.Asn343Asn|1066/1669|1029/1125|343/374|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 NA 0 0 0 0 NA 0 NA 0 0 0 NA 0 0 NA 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 NA 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 1 19 47772811 G T T|stop_gained|HIGH|ENSPANG00000014396|ENSPANG00000014396|transcript|ENSPANT00000009068.1|protein_coding|7/7|c.967G>T|p.Glu323*|1188/1895|967/1188|323/395||,T|downstream_gene_variant|MODIFIER|U6|ENSPANG00000027167|transcript|ENSPANT00000018836.1|snRNA||n.*2423C>A|||||2423| 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 1 1 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 NA NA NA 19 48062091 T C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000012785|ENSPANG00000012785|transcript|ENSPANT00000010057.1|protein_coding|8/10|c.1049-2A>G||||||,C|upstream_gene_variant|MODIFIER|TNNI3|ENSPANG00000018446|transcript|ENSPANT00000014785.1|protein_coding||c.-3149A>G|||||3149|WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 1 0 2 0 1 1 2 0 0 0 0 1 1 1 0 0 0 0 0 1 0 1 0 1 0 0 0 1 0 2 1 0 2 0 0 1 1 0 1 1 0 0 2 0 0 0 0 2 0 2 1 2 0 0 1 0 0 2 0 2 0 1 0 0 0 0 0 2 1 0 1 0 2 0 0 0 0 2 1 1 2 19 48222432 C T T|stop_gained|HIGH|BRSK1|ENSPANG00000001626|transcript|ENSPANT00000010864.1|protein_coding|22/25|c.2116C>T|p.Gln706*|2116/2271|2116/2271|706/756||WARNING_TRANSCRIPT_NO_STOP_CODON,T|downstream_gene_variant|MODIFIER|TMEM150B|ENSPANG00000017120|transcript|ENSPANT00000011350.1|protein_coding||c.*3824G>A|||||3824| 0 1 1 0 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 19 50588687 C G G|splice_donor_variant&intron_variant|HIGH|ENSPANG00000012094|ENSPANG00000012094|transcript|ENSPANT00000013345.1|protein_coding|2/2|c.163+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 19 50613073 A C C|stop_gained|HIGH|ENSPANG00000008962|ENSPANG00000008962|transcript|ENSPANT00000009104.1|protein_coding|2/2|c.1434T>G|p.Tyr478*|1434/3823|1434/1602|478/533|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 19 50927772 G A A|splice_donor_variant&intron_variant|HIGH|ZNF544|ENSPANG00000008310|transcript|ENSPANT00000002186.1|protein_coding|2/4|c.33+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 446781 A G G|stop_lost&splice_region_variant|HIGH|NHLRC4|ENSPANG00000021398|transcript|ENSPANT00000018487.1|protein_coding|1/1|c.372A>G|p.Ter124Trpext*?|372/372|372/372|124/123||,G|upstream_gene_variant|MODIFIER|PIGQ|ENSPANG00000009993|transcript|ENSPANT00000003980.1|protein_coding||c.-4951A>G|||||2808|,G|downstream_gene_variant|MODIFIER|PRR35|ENSPANG00000009930|transcript|ENSPANT00000025383.1|protein_coding||c.*3501A>G|||||3501| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 603355 C T T|stop_gained|HIGH|CCDC78|ENSPANG00000015756|transcript|ENSPANT00000026530.1|protein_coding|13/13|c.1244G>A|p.Trp415*|1244/1299|1244/1299|415/432||WARNING_TRANSCRIPT_NO_STOP_CODON,T|upstream_gene_variant|MODIFIER|HAGHL|ENSPANG00000004810|transcript|ENSPANT00000026529.1|protein_coding||c.-4531C>T|||||4044|,T|downstream_gene_variant|MODIFIER|METRN|ENSPANG00000020545|transcript|ENSPANT00000006821.1|protein_coding||c.*5877C>T|||||1838|WARNING_TRANSCRIPT_NO_START_CODON,T|downstream_gene_variant|MODIFIER|FAM173A|ENSPANG00000019981|transcript|ENSPANT00000003995.1|protein_coding||c.*420C>T|||||420|,T|downstream_gene_variant|MODIFIER|METRN|ENSPANG00000020545|transcript|ENSPANT00000003989.2|protein_coding||c.*5877C>T|||||1838| 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 1 2 0 1 1 0 1 0 0 0 0 0 0 1 0 0 2 0 0 0 1 1 1 0 2 1 1 0 2 1 2 1 1 0 0 0 0 0 0 2 1 0 0 0 0 0 0 1 0 0 0 0 0 1 0 2 0 0 1 1 1 0 1 0 1 0 1 0 0 0 0 0 0 20 605110 G A A|stop_gained|HIGH|CCDC78|ENSPANG00000015756|transcript|ENSPANT00000026530.1|protein_coding|8/13|c.703C>T|p.Gln235*|703/1299|703/1299|235/432||WARNING_TRANSCRIPT_NO_STOP_CODON,A|upstream_gene_variant|MODIFIER|HAGHL|ENSPANG00000004810|transcript|ENSPANT00000026529.1|protein_coding||c.-2776G>A|||||2289|,A|downstream_gene_variant|MODIFIER|METRN|ENSPANG00000020545|transcript|ENSPANT00000006821.1|protein_coding||c.*7632G>A|||||3593|WARNING_TRANSCRIPT_NO_START_CODON,A|downstream_gene_variant|MODIFIER|FAM173A|ENSPANG00000019981|transcript|ENSPANT00000003995.1|protein_coding||c.*2175G>A|||||2175|,A|downstream_gene_variant|MODIFIER|METRN|ENSPANG00000020545|transcript|ENSPANT00000003989.2|protein_coding||c.*7632G>A|||||3593| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 655231 C A A|splice_donor_variant&intron_variant|HIGH|MSLNL|ENSPANG00000020543|transcript|ENSPANT00000004814.1|protein_coding|5/11|c.361+1G>T||||||,A|downstream_gene_variant|MODIFIER|MSLN|ENSPANG00000023076|transcript|ENSPANT00000024764.1|protein_coding||c.*4737C>A|||||2865|,A|downstream_gene_variant|MODIFIER|ENSPANG00000002955|ENSPANG00000002955|transcript|ENSPANT00000002838.1|miRNA||n.*3228C>A|||||3228| 0 0 0 0 0 0 0 0 NA 0 0 0 1 0 1 NA 2 NA 0 0 0 0 NA 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 NA 1 1 1 0 0 0 1 2 0 0 NA 0 0 NA 0 0 0 0 0 1 0 2 0 0 0 1 0 1 0 0 1 0 NA 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 2 0 0 1 0 NA 0 0 0 NA 0 0 20 678731 G A A|stop_gained|HIGH|GNG13|ENSPANG00000026005|transcript|ENSPANT00000023174.1|protein_coding|1/2|c.22C>T|p.Gln8*|22/201|22/201|8/66||WARNING_TRANSCRIPT_NO_STOP_CODON,A|downstream_gene_variant|MODIFIER|CHTF18|ENSPANG00000015902|transcript|ENSPANT00000020123.1|protein_coding||c.*1016G>A|||||1016| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 694142 G A A|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|PRR25|ENSPANG00000017905|transcript|ENSPANT00000023173.1|protein_coding|5/6|c.876+1G>A||||||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 0 0 0 0 1 1 0 0 0 2 1 0 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 1 1 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 1 0 2 0 1 0 0 1 0 0 0 0 0 0 0 0 1 1 0 0 1 0 0 1 0 20 1041872 T C C|start_lost|HIGH|CACNA1H|ENSPANG00000009726|transcript|ENSPANT00000022755.1|protein_coding|1/33|c.2T>C|p.Met1?|2/7059|2/7059|1/2352||,C|intron_variant|MODIFIER|CACNA1H|ENSPANG00000009726|transcript|ENSPANT00000009864.2|protein_coding|1/34|c.316-1506T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 1 0 0 0 NA 0 0 0 0 0 0 0 1 0 NA 0 0 0 1 1 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 NA 0 1 1 0 0 0 20 1109114 C A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000024732|ENSPANG00000024732|transcript|ENSPANT00000022339.1|protein_coding|1/4|c.61+1G>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 1 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 2 1 2 0 0 0 0 0 0 0 0 1 0 0 1 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 2 0 0 0 1 0 1 0 0 0 0 0 0 0 0 20 1125153 C G G|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000017868|ENSPANG00000017868|transcript|ENSPANT00000005887.1|protein_coding|4/4|c.733-1G>C||||||,G|upstream_gene_variant|MODIFIER|ENSPANG00000017867|ENSPANG00000017867|transcript|ENSPANT00000018817.1|protein_coding||c.-4389G>C|||||3963|WARNING_TRANSCRIPT_NO_START_CODON,G|upstream_gene_variant|MODIFIER|ENSPANG00000028782|ENSPANG00000028782|transcript|ENSPANT00000029956.1|lincRNA||n.-1554G>C|||||1554| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 1127740 C T T|stop_gained|HIGH|ENSPANG00000017868|ENSPANG00000017868|transcript|ENSPANT00000005887.1|protein_coding|2/5|c.273G>A|p.Trp91*|300/1188|273/897|91/298||,T|upstream_gene_variant|MODIFIER|ENSPANG00000028782|ENSPANG00000028782|transcript|ENSPANT00000029956.1|lincRNA||n.-4141G>A|||||4141|,T|downstream_gene_variant|MODIFIER|ENSPANG00000017869|ENSPANG00000017869|transcript|ENSPANT00000018473.1|protein_coding||c.*4795G>A|||||4551| 1 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 20 1366352 C T T|stop_gained|HIGH|PTX4|ENSPANG00000021087|transcript|ENSPANT00000005544.1|protein_coding|2/2|c.939G>A|p.Trp313*|1441/3619|939/1086|313/361|| 0 0 1 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 20 1555703 C T T|stop_gained|HIGH|CRAMP1|ENSPANG00000017496|transcript|ENSPANT00000005568.2|protein_coding|21/21|c.3847C>T|p.Gln1283*|4141/8092|3847/3852|1283/1283||,T|stop_gained|HIGH|CRAMP1|ENSPANG00000017496|transcript|ENSPANT00000005569.1|protein_coding|22/22|c.3733C>T|p.Gln1245*|3733/7684|3733/3738|1245/1245||,T|upstream_gene_variant|MODIFIER|HN1L|ENSPANG00000016521|transcript|ENSPANT00000023079.1|protein_coding||c.-4241C>T|||||4200| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 1855503 T C C|splice_donor_variant&intron_variant|HIGH|TBL3|ENSPANG00000007024|transcript|ENSPANT00000005580.1|protein_coding|7/21|c.884+2T>C||||||,C|downstream_gene_variant|MODIFIER|RNF151|ENSPANG00000019234|transcript|ENSPANT00000005574.1|protein_coding||c.*3661T>C|||||3661|WARNING_TRANSCRIPT_NO_START_CODON,C|downstream_gene_variant|MODIFIER|NOXO1|ENSPANG00000000513|transcript|ENSPANT00000000989.1|protein_coding||c.*3914A>G|||||3914| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 2600854 C T T|stop_gained|HIGH|ENSPANG00000016595|ENSPANG00000016595|transcript|ENSPANT00000011891.1|protein_coding|1/6|c.102G>A|p.Trp34*|102/1122|102/1122|34/373|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 20 2608733 T G G|stop_gained|HIGH|PRSS33|ENSPANG00000003889|transcript|ENSPANT00000010440.1|protein_coding|4/7|c.480T>G|p.Tyr160*|480/837|480/837|160/278|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 20 2608984 G A A|stop_gained|HIGH|PRSS33|ENSPANG00000003889|transcript|ENSPANT00000010440.1|protein_coding|5/7|c.528G>A|p.Trp176*|528/837|528/837|176/278|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 20 3197018 T C C|splice_donor_variant&intron_variant|HIGH|ZSCAN32|ENSPANG00000009599|transcript|ENSPANT00000018326.1|protein_coding|1/11|c.285+2A>G||||||WARNING_TRANSCRIPT_NO_START_CODON,C|intron_variant|MODIFIER|ENSPANG00000029060|ENSPANG00000029060|transcript|ENSPANT00000030882.1|lincRNA|1/1|n.254-22T>C||||||,C|intron_variant|MODIFIER|ENSPANG00000029060|ENSPANG00000029060|transcript|ENSPANT00000029691.1|lincRNA|2/2|n.217-22T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 2 1 2 1 1 0 2 2 2 2 0 0 1 0 1 0 0 0 0 0 0 1 0 0 2 1 0 2 2 1 1 2 2 0 2 0 0 0 2 0 1 0 0 1 1 2 0 2 1 0 2 0 0 2 0 2 0 0 1 2 0 0 2 0 2 0 1 0 0 1 0 1 1 2 1 2 0 20 4595280 C T T|stop_gained|HIGH|C16orf71|ENSPANG00000010335|transcript|ENSPANT00000024850.1|protein_coding|8/8|c.1465C>T|p.Arg489*|1516/1608|1465/1557|489/518||,T|downstream_gene_variant|MODIFIER|ZNF500|ENSPANG00000017589|transcript|ENSPANT00000019924.1|protein_coding||c.*3986G>A|||||3986| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 4876865 C T T|splice_acceptor_variant&intron_variant|HIGH|NAGPA|ENSPANG00000019368|transcript|ENSPANT00000026527.1|protein_coding|10/10|c.1239-1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 20 4897882 G A A|stop_gained|HIGH|C16orf89|ENSPANG00000023483|transcript|ENSPANT00000013696.1|protein_coding|7/8|c.937C>T|p.Arg313*|1033/1182|937/1086|313/361|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 8463067 A G G|splice_acceptor_variant&intron_variant|HIGH|METTL22|ENSPANG00000012449|transcript|ENSPANT00000012301.1|protein_coding|1/10|c.-170-2A>G|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 20 8616562 G A A|stop_gained|HIGH|TMEM186|ENSPANG00000025186|transcript|ENSPANT00000018476.1|protein_coding|2/2|c.514C>T|p.Gln172*|549/677|514/642|172/213||,A|upstream_gene_variant|MODIFIER|PMM2|ENSPANG00000026497|transcript|ENSPANT00000015917.2|protein_coding||c.-1818G>A|||||1669|,A|upstream_gene_variant|MODIFIER|PMM2|ENSPANG00000026497|transcript|ENSPANT00000015926.1|protein_coding||c.-1818G>A|||||1669| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 11443205 G A A|stop_gained|HIGH|ENSPANG00000022238|ENSPANG00000022238|transcript|ENSPANT00000010108.1|protein_coding|4/4|c.472C>T|p.Arg158*|472/573|472/573|158/190||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 16438120 T C C|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000027616|ENSPANG00000027616|transcript|ENSPANT00000031108.1|lincRNA|1/3|n.367-2A>G||||||,C|intron_variant|MODIFIER|XYLT1|ENSPANG00000005647|transcript|ENSPANT00000008472.1|protein_coding|9/11|c.1667+9T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 20 19380402 G A A|splice_donor_variant&intron_variant|HIGH|ENSPANG00000000945|ENSPANG00000000945|transcript|ENSPANT00000008794.1|protein_coding|1/6|c.-28+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 2 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 20 21278554 G T T|stop_gained|HIGH|PALB2|ENSPANG00000018524|transcript|ENSPANT00000012372.1|protein_coding|13/13|c.3551C>A|p.Ser1184*|3551/4499|3551/3555|1184/1184|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 20 22497439 A C C|stop_lost&splice_region_variant|HIGH|TNRC6A|ENSPANG00000018523|transcript|ENSPANT00000018812.1|protein_coding|18/18|c.4763A>C|p.Ter1588Serext*?|4763/4764|4763/4764|1588/1587|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 25008973 T G G|stop_gained|HIGH|IL4R|ENSPANG00000025457|transcript|ENSPANT00000012396.1|protein_coding|3/9|c.273T>G|p.Tyr91*|291/2496|273/2478|91/825|| 1 1 NA 1 1 0 1 0 1 0 1 1 2 0 1 2 2 0 1 1 0 1 2 1 2 0 1 2 1 0 1 2 1 1 0 0 2 1 2 1 1 2 1 2 1 2 2 2 0 2 0 1 2 1 1 1 0 2 1 1 2 0 2 0 2 2 1 2 0 1 0 1 1 0 2 2 1 0 0 1 0 1 0 0 1 1 1 2 1 1 0 1 1 1 1 2 1 0 0 NA 20 27231091 C T T|stop_gained|HIGH|ZNF646|ENSPANG00000000984|transcript|ENSPANT00000027163.1|protein_coding|1/2|c.3850C>T|p.Arg1284*|3929/5587|3850/5508|1284/1835||,T|downstream_gene_variant|MODIFIER|PRSS53|ENSPANG00000000985|transcript|ENSPANT00000000088.2|protein_coding||c.*3629G>A|||||3629| 0 0 1 1 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 20 28117732 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000005021|ENSPANG00000005021|transcript|ENSPANT00000001490.1|protein_coding|10/12|c.657+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 28764759 A T T|stop_gained|HIGH|ENSPANG00000007621|ENSPANG00000007621|transcript|ENSPANT00000019249.1|protein_coding|7/8|c.1311T>A|p.Tyr437*|1311/1473|1311/1473|437/490||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 1 0 20 29120304 T A A|stop_gained|HIGH|VPS35|ENSPANG00000015747|transcript|ENSPANT00000009595.1|protein_coding|6/17|c.637A>T|p.Arg213*|722/2476|637/2391|213/796|| 0 1 1 1 NA 1 1 1 NA 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 20 29120355 G A A|stop_gained|HIGH|VPS35|ENSPANG00000015747|transcript|ENSPANT00000009595.1|protein_coding|6/17|c.586C>T|p.Arg196*|671/2476|586/2391|196/796|| 0 0 0 NA NA NA NA NA NA NA 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 NA 0 0 0 NA 0 0 0 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 20 38284877 C A A|stop_lost&splice_region_variant|HIGH|ENSPANG00000015994|ENSPANG00000015994|transcript|ENSPANT00000012281.1|protein_coding|8/8|c.923G>T|p.Ter308Leuext*?|1478/1479|923/924|308/307|| 2 2 2 2 2 2 2 2 2 2 2 1 0 1 1 0 2 2 2 2 1 2 1 2 2 2 1 2 2 2 2 2 2 1 2 2 2 2 0 0 1 2 2 2 1 2 2 2 1 2 2 2 2 0 2 2 1 2 2 2 2 2 1 2 2 2 2 1 2 2 2 2 2 2 2 0 2 2 2 0 2 2 1 2 2 1 2 0 2 2 1 1 2 2 2 2 2 2 1 2 20 39200268 C A A|stop_gained|HIGH|ENSPANG00000016266|ENSPANG00000016266|transcript|ENSPANT00000026587.1|protein_coding|2/3|c.102C>A|p.Cys34*|233/1041|102/330|34/109||,A|downstream_gene_variant|MODIFIER|MT1E|ENSPANG00000019229|transcript|ENSPANT00000024178.1|protein_coding||c.*4586C>A|||||3542| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 39214777 G C C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020493|ENSPANG00000020493|transcript|ENSPANT00000024181.2|protein_coding|1/1|c.28+1G>C||||||,C|splice_donor_variant&intron_variant|HIGH|ENSPANG00000020493|ENSPANG00000020493|transcript|ENSPANT00000024755.1|protein_coding|1/2|c.28+1G>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 20 39215473 G A A|stop_gained|HIGH|ENSPANG00000020493|ENSPANG00000020493|transcript|ENSPANT00000024181.2|protein_coding|2/2|c.132G>A|p.Trp44*|217/311|132/207|44/68||,A|intron_variant|MODIFIER|ENSPANG00000020493|ENSPANG00000020493|transcript|ENSPANT00000024755.1|protein_coding|2/2|c.94+38G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 1 0 20 39249018 G T T|stop_gained|HIGH|MT1M|ENSPANG00000022878|transcript|ENSPANT00000027217.1|protein_coding|4/4|c.180C>A|p.Cys60*|381/514|180/186|60/61||,T|downstream_gene_variant|MODIFIER|ENSPANG00000022112|ENSPANG00000022112|transcript|ENSPANT00000020305.1|protein_coding||c.*2989C>A|||||2854| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 1 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 1 1 1 0 2 0 1 0 0 1 0 0 1 0 0 0 0 0 1 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 1 0 20 39262091 C T T|stop_gained|HIGH|ENSPANG00000006265|ENSPANG00000006265|transcript|ENSPANT00000015579.1|protein_coding|3/3|c.178C>T|p.Arg60*|178/210|178/210|60/69||WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 20 40404718 G A A|splice_acceptor_variant&intron_variant|HIGH|ENSPANG00000023902|ENSPANG00000023902|transcript|ENSPANT00000015980.1|protein_coding|1/3|c.40-1G>A||||||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 2 1 1 2 2 1 0 1 1 1 2 1 2 0 1 2 0 0 0 0 0 2 0 0 2 0 2 2 1 1 1 0 0 1 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 1 1 2 1 2 0 0 0 0 0 0 2 0 0 0 0 2 0 0 2 0 2 0 0 1 1 0 1 1 0 0 0 0 0 0 0 0 20 40563510 C T T|stop_gained|HIGH|TEPP|ENSPANG00000005253|transcript|ENSPANT00000006883.1|protein_coding|2/9|c.91C>T|p.Arg31*|91/819|91/819|31/272||,T|intron_variant|MODIFIER|ZNF319|ENSPANG00000015991|transcript|ENSPANT00000007783.1|protein_coding|3/3|c.1629-9623G>A|||||| 1 1 0 0 1 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 20 41128094 T A A|splice_acceptor_variant&intron_variant|HIGH|CNOT1|ENSPANG00000020901|transcript|ENSPANT00000016845.1|protein_coding|37/52|c.4875-2A>T|||||| 1 1 0 0 1 1 0 0 1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 2 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 NA 20 48932867 A G G|splice_donor_variant&intron_variant|HIGH|DYNC1LI2|ENSPANG00000025999|transcript|ENSPANT00000009053.2|protein_coding|13/14|c.1405+2T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|DYNC1LI2|ENSPANG00000025999|transcript|ENSPANT00000009059.1|protein_coding|12/12|c.1379-288T>C|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 48932868 C G G|splice_donor_variant&intron_variant|HIGH|DYNC1LI2|ENSPANG00000025999|transcript|ENSPANT00000009053.2|protein_coding|13/14|c.1405+1G>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|DYNC1LI2|ENSPANG00000025999|transcript|ENSPANT00000009059.1|protein_coding|12/12|c.1379-289G>C|||||| 2 0 1 1 0 0 1 0 1 1 1 1 2 1 2 2 2 2 0 1 2 0 1 1 1 0 1 0 1 0 0 0 1 2 0 1 1 0 2 2 0 0 0 0 0 0 0 1 0 1 0 1 1 0 1 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2 0 2 0 2 0 0 0 1 1 1 0 0 0 0 1 1 0 0 2 0 0 0 0 1 20 49154451 C T T|stop_gained|HIGH|CES2|ENSPANG00000009781|transcript|ENSPANT00000025501.1|protein_coding|3/12|c.571C>T|p.Gln191*|571/1935|571/1935|191/644|| 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 1 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 1 0 1 0 20 49281040 C T T|splice_donor_variant&intron_variant|HIGH|ENSPANG00000028998|ENSPANG00000028998|transcript|ENSPANT00000030984.1|lincRNA|1/1|n.10+1G>A||||||,T|intron_variant|MODIFIER|CBFB|ENSPANG00000008068|transcript|ENSPANT00000022091.1|protein_coding|4/5|c.400-880C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 50905016 C T T|stop_gained|HIGH|ENSPANG00000007114|ENSPANG00000007114|transcript|ENSPANT00000017152.1|protein_coding|1/3|c.254G>A|p.Trp85*|254/813|254/813|85/270||WARNING_TRANSCRIPT_NO_START_CODON,T|intron_variant|MODIFIER|CDH3|ENSPANG00000021962|transcript|ENSPANT00000028051.1|protein_coding|2/24|c.160+6567C>T|||||| 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 2 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 1 1 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 20 50939535 G C C|splice_donor_variant&intron_variant|HIGH|CDH3|ENSPANG00000021962|transcript|ENSPANT00000028051.1|protein_coding|10/24|c.1424+1G>C|||||| 0 NA NA NA 0 NA NA NA NA 0 NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 0 NA 0 0 0 NA 0 NA 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA NA 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 20 51620240 A G G|start_lost|HIGH|ENSPANG00000018697|ENSPANG00000018697|transcript|ENSPANT00000026453.1|protein_coding|1/6|c.2T>C|p.Met1?|2/3363|2/1938|1/645||,G|downstream_gene_variant|MODIFIER|ENSPANG00000018000|ENSPANG00000018000|transcript|ENSPANT00000012739.1|protein_coding||c.*3815T>C|||||3815|WARNING_TRANSCRIPT_NO_STOP_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 NA 0 0 0 0 0 0 20 54542516 G A A|splice_donor_variant&intron_variant|HIGH|PKD1L3|ENSPANG00000006310|transcript|ENSPANT00000026225.1|protein_coding|4/31|c.585+1G>A|||||| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 56901274 C A A|stop_gained|HIGH|RPS4Y1|ENSPANG00000022801|transcript|ENSPANT00000027212.1|protein_coding|3/3|c.553G>T|p.Gly185*|553/777|553/777|185/258||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 56901601 G A A|stop_gained|HIGH|RPS4Y1|ENSPANG00000022801|transcript|ENSPANT00000027212.1|protein_coding|3/3|c.226C>T|p.Arg76*|226/777|226/777|76/258||WARNING_TRANSCRIPT_NO_START_CODON 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 56941996 C G G|stop_gained|HIGH|ENSPANG00000024448|ENSPANG00000024448|transcript|ENSPANT00000028133.1|protein_coding|5/7|c.492C>G|p.Tyr164*|492/789|492/789|164/262|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 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20 68252916 G A A|stop_gained|HIGH|MTHFSD|ENSPANG00000021729|transcript|ENSPANT00000024321.1|protein_coding|8/8|c.1072C>T|p.Gln358*|1129/1212|1072/1155|358/384|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 20 70314857 C T T|stop_gained|HIGH|ZC3H18|ENSPANG00000024391|transcript|ENSPANT00000021085.1|protein_coding|9/30|c.1012C>T|p.Gln338*|1012/5522|1012/2940|338/979|| 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 71459440 G A A|stop_gained|HIGH|FANCA|ENSPANG00000008150|transcript|ENSPANT00000024279.1|protein_coding|37/43|c.3736C>T|p.Gln1246*|3736/6429|3736/4371|1246/1456|| 1 0 0 1 0 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 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