Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp1 others(26): Show HG00140.hp2 HG00597.hp1 HG00738.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02155.hp2 HG02647.hp2 HG03453.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18947.hp2 NA18959.hp1 NA18972.hp2 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19072.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19089.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0004 a0003c0002 others(1): Show a0001c0001 a0002c0004 a0003c0002 a0014c0012	a0001c0001t0001 a0002c0004t0001 a0003c0002t0001 others(4): Show a0001c0001t0001 a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0007 a0003c0002t0011 a0014c0012t0001	a0001c0001t0001g0265 a0002c0004t0001g0033 a0002c0004t0001g0077 others(16): Show a0001c0001t0001g0265 a0002c0004t0001g0033 a0002c0004t0001g0077 a0002c0004t0001g0104 a0002c0004t0001g0142 a0002c0004t0001g0175 a0002c0004t0001g0186 a0002c0004t0001g0251 a0003c0002t0001g0071 a0003c0002t0001g0092 a0003c0002t0001g0103 a0003c0002t0001g0268 a0003c0002t0002g0003 a0003c0002t0002g0031 a0003c0002t0002g0228 a0003c0002t0002g0234 a0003c0002t0007g0095 a0003c0002t0011g0227 a0014c0012t0001g0232	29	438	0.0662	40	c.489 others(53): Show c.489+55_489+94dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACE2_chrX_15556033_15605960	15593391	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	264	0.0038	40	c.346 others(57): Show c.346-1070_346-1069insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17			chrX	TogoVar
ACER3_chr11_76855918_77031797	77005982	T T	TATTATAT others(33): Show TATTATATATATATACATATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02148.hp1 HG00741.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0077 a0001c0001t0030g0015 a0001c0001t0004g0077 a0001c0001t0030g0015	2	346	0.0058	40	c.497 others(57): Show c.497+7163_497+7164insTATATATATATACATATATATATATTAT ATATATATACAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR3_chr2_236564825_236587354	236582738	G G	GGTGTCCT others(33): Show GGTGTCCTCATCTGTACCACCTGTGTGCTTCCAGGGCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	394	0.0025	40	c.11 others(51): Show c.1184_*1185insGTGTCCTCATCTGTACCACCTGTGTGCTTCCAGG GCCAGT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		385		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	382	0.0026	40	c.-38 others(51): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGG AGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	382	0.0026	40	c.-38 others(51): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGG AGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	382	0.0026	40	c.-38 others(51): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGG AGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA19004.hp1 HG03516.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0266 a0001c0001t0001g0238 a0001c0001t0001g0266	2	382	0.0052	40	c.-38 others(51): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGG AGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	382	0.0026	40	c.-38 others(51): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGG AAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	382	0.0026	40	c.-38 others(51): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAAG AAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(33): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	150	0.0067	40	c.105 others(61): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110958993	C C	CAGGCCTG others(33): Show CAGGCCTGCACGGCCCCTCCAGGCAGATGAGACCCCTCGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	150	0.0067	40	c.105 others(61): Show c.1059+25352_1059+25391dupAGGCCTGCACGGCCCCTCCAGGCA GATGAGACCCCTCGTG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0172 a0001c0002t0004g0171 a0001c0002t0003g0172 a0001c0002t0004g0171	2	368	0.0054	40	c.121 others(57): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0130 a0003c0004t0003g0130	1	350	0.0029	40	c.132 others(57): Show c.132-7623_132-7622insTCCTTTCTTTCTTTCTTTCTTCCTTTCT TTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0297 a0001c0001t0001g0016 a0001c0001t0001g0297	2	364	0.0055	40	c.159 others(57): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	364	0.0028	40	c.159 others(57): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA TATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	364	0.0028	40	c.159 others(57): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(33): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18951.hp1 NA18957.hp2 others(1): Show HG01255.hp1 NA18951.hp1 NA18957.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0009 a0001c0001 a0002c0003 a0002c0009	a0001c0001t0003 a0002c0003t0005 a0002c0009t0002 a0001c0001t0003 a0002c0003t0005 a0002c0009t0002	a0001c0001t0003g0243 a0002c0003t0005g0271 a0002c0003t0005g0274 others(1): Show a0001c0001t0003g0243 a0002c0003t0005g0271 a0002c0003t0005g0274 a0002c0009t0002g0270	4	290	0.0138	40	c.135 others(59): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTCCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(33): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18982.hp2 HG04204.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0221 a0001c0001t0003g0215 a0001c0001t0003g0221	2	290	0.0069	40	c.135 others(59): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(33): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02886.hp1 others(1): Show HG02723.hp2 HG02818.hp1 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0004 a0001c0003t0004 a0001c0001t0005 a0001c0002t0004 a0001c0003t0004	a0001c0001t0005g0391 a0001c0002t0004g0042 a0001c0002t0004g0372 others(1): Show a0001c0001t0005g0391 a0001c0002t0004g0042 a0001c0002t0004g0372 a0001c0003t0004g0046	4	416	0.0096	40	c.40 others(51): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL9_chr19_8692400_8703795	8699489	A A	AGGGAGGC others(33): Show AGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	356	0.0028	40	c.-78 others(49): Show c.-789_-788insCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCC TCCC	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		695		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp2 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0205 a0001c0001t0001g0166 a0001c0001t0001g0205	2	284	0.0070	40	c.106 others(59): Show c.106-24791_106-24790insTATATATATATATATATATATACACA CACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	284	0.0035	40	c.106 others(59): Show c.106-24791_106-24790insTATATATATATATATACACACACACA CACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01928.hp1 others(4): Show HG01123.hp1 HG01168.hp1 HG01928.hp1 HG02004.hp1 HG02004.hp2 NA18990.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0010t0002	a0001c0001t0001g0032 a0001c0001t0001g0158 a0001c0001t0001g0327 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0158 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0012g0337 a0001c0002t0002g0278 a0001c0010t0002g0160	7	344	0.0204	40	c.876 others(53): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673488	C C	CATATATA others(33): Show CATATATATTTATATATATGAATATATATTTATATATATGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(19): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0020 a0001c0004 a0001c0006 a0001c0020	a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 others(4): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047 a0001c0020t0001	a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 others(19): Show a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239 a0001c0020t0001g0234	22	314	0.0701	40	c.162 others(59): Show c.162+25619_162+25620insGAATATATATTTATATATATGAATAT ATATTTATATATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38673488	C C	CATATATA others(33): Show CATATATATTTTTATATATGAATATATATTTATATATATGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG04199.hp2 HG01943.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0226 a0001c0004t0005g0243 a0001c0002t0001g0226 a0001c0004t0005g0243	2	314	0.0064	40	c.162 others(59): Show c.162+25591_162+25592insTTATATATGAATATATATTTATATAT ATGAATATATATTT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735670	C C	CGCGGGGC others(33): Show CGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02293.hp2 HG02273.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0078 a0001c0001t0010g0082 a0001c0001t0010g0078 a0001c0001t0010g0082	2	314	0.0064	40	c.62 others(51): Show c.6238_*6239insGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTT CTGGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4082		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735727	G G	GGGGGCGG others(33): Show GGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	314	0.0032	40	c.62 others(51): Show c.6295_*6296insGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4139		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735797	C C	CGGGGCGG others(33): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0087 a0001c0003t0003g0087	1	314	0.0032	40	c.63 others(51): Show c.6365_*6366insGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG GTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4209		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735817	G G	GCGGGCGG others(33): Show GCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0247 a0001c0015t0004g0247	1	314	0.0032	40	c.63 others(51): Show c.6385_*6386insCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4229		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(33): Show GGGGCGGGGCGGTGGTTCTGGCGGGCGGGGCGGGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	314	0.0032	40	c.64 others(51): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGGCGGGCGGGGCGGGG TTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735917	C C	CGGGGCGG others(33): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18612.hp2 NA18939.hp1 others(1): Show HG03704.hp2 NA18612.hp2 NA18939.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0044 a0001c0001t0004 a0001c0001t0044	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0264 others(1): Show a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0044g0259	4	314	0.0127	40	c.64 others(51): Show c.6485_*6486insGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGG GTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4329		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735972	C C	CGGGGGTT others(33): Show CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	314	0.0032	40	c.65 others(51): Show c.6540_*6541insGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGG GTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4384		chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3025587	G G	GGCCACAC others(33): Show GGCCACACAGGGAGTTGAGAGCAGAGCTCAGCCCAGAGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	40	c.27 others(51): Show c.2767_*2768insGCCACACAGGGAGTTGAGAGCAGAGCTCAGCCCA GAGTCC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		2685		chr1	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02886.hp1 HG02897.hp2 others(6): Show HG01106.hp2 HG02886.hp1 HG02897.hp2 HG03225.hp1 HG03453.hp2 HG06807.hp1 HG06807.hp2 NA18949.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0029 a0001c0001t0035 others(3): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0035 a0001c0002t0001 a0002c0003t0005 a0002c0004t0002	a0001c0001t0001g0013 a0001c0001t0001g0145 a0001c0001t0001g0198 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0145 a0001c0001t0001g0198 a0001c0001t0029g0014 a0001c0001t0035g0142 a0001c0002t0001g0085 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0004t0002g0099	9	216	0.0417	40	c.544 others(57): Show c.544+1852_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0027	a0002c0008t0027g0105 a0002c0008t0027g0105	1	216	0.0046	40	c.544 others(57): Show c.544+1891_544+1892insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01884.hp1 HG02109.hp1 others(1): Show HG00558.hp1 HG01884.hp1 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0036 a0001c0001t0001 a0001c0001t0011 a0001c0001t0036	a0001c0001t0001g0180 a0001c0001t0001g0210 a0001c0001t0011g0165 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0210 a0001c0001t0011g0165 a0001c0001t0036g0185	4	216	0.0185	40	c.544 others(57): Show c.544+1824_544+1825insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54096290	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(169): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0002c0003t0002 a0002c0003t0005 a0002c0005t0002 a0003c0004t0007 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0115 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0004g0114 a0001c0001t0004g0121 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0238 a0001c0001t0004g0251 a0001c0001t0004g0272 a0001c0001t0010g0207 a0001c0001t0011g0126 a0001c0001t0012g0264 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0122 a0001c0002t0002g0271 a0001c0002t0003g0064 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0096 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0005g0017 a0001c0002t0005g0035 a0001c0002t0005g0039 a0001c0002t0005g0062 a0001c0002t0005g0068 a0001c0002t0006g0002 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0008g0092 a0001c0002t0008g0094 a0001c0002t0009g0084 a0001c0002t0009g0086 a0001c0002t0013g0040 a0001c0002t0014g0063 a0001c0002t0015g0097 a0001c0002t0016g0055 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0012 a0002c0003t0002g0019 a0002c0003t0002g0021 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0049 a0002c0003t0002g0090 a0002c0003t0002g0093 a0002c0003t0005g0015 a0002c0005t0002g0168 a0003c0004t0007g0003 a0003c0004t0007g0004 a0004c0006t0001g0185	172	272	0.6324	40	c.277 others(59): Show c.277+38964_277+38965insAAGAGGCGCTCCTCACTTCCTAGATG GGATGGCGGCCGGG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0107 a0002c0006t0003g0107	1	408	0.0025	40	c.108 others(59): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0228 a0001c0004t0005g0228	1	408	0.0025	40	c.973 others(55): Show c.973-422_973-421insATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	386	0.0026	40	c.-16 others(57): Show c.-163-281_-163-280insATATATATATATATATATATATATATAT ATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655674	A A	ATATATAT others(33): Show ATATATATACTATATATAGTATATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00639.hp1 others(41): Show HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG01081.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02148.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18971.hp1 NA18975.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0024 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0109 a0001c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0149 others(41): Show a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0002g0103 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0010g0137 a0001c0001t0024g0168 a0001c0001t0043g0147 a0001c0001t0044g0126 a0001c0001t0048g0341 a0001c0001t0048g0342 a0001c0001t0102g0122 a0001c0001t0104g0104 a0001c0001t0105g0141 a0001c0001t0109g0105 a0001c0002t0001g0115 a0001c0002t0001g0119	44	342	0.1287	40	c.585 others(57): Show c.585+9422_585+9423insCTATATATAGTATATATATATACTATAT ATAGTATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655704	A A	ATATACTA others(33): Show ATATACTATATATAGTATATATATATACTATATATAGTGTG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	342	0.0029	40	c.585 others(57): Show c.585+9392_585+9393insCACACTATATATAGTATATATATATACT ATATATAGTATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	230	0.0044	40	c.324 others(59): Show c.324-36161_324-36160insAAAAAAAAAAAAAATATATATATATA TATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88113695	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	230	0.0044	40	c.474 others(55): Show c.474-886_474-885insTATATATATATATATATATATATATAATAT ATATATTATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM8_chr10_133257423_133281868	133264870	T T	TTCCTGCT others(33): Show TTCCTGCTGCAGCCTCTGCCCCATCTACCTCCATGCCCAGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03516.hp1 HG02970.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	3	386	0.0078	40	c.232 others(59): Show c.2320-1145_2320-1106dupGCTGGGCATGGAGGTAGATGGGGCAG AGGCTGCAGCAGGA	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22			chr10	TogoVar
ADAM8_chr10_133257423_133281868	133265226	A A	AGCTCCTG others(33): Show AGCTCCTGCTGCAGCCTCTGCCCCATCTACCGCCACGCCCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03579.hp1 others(1): Show HG02965.hp1 HG03130.hp2 HG03579.hp1 HG03579.hp2	a0008 a0012 a0016 a0008 a0012 a0016	a0008c0022 a0012c0015 a0016c0021 a0008c0022 a0012c0015 a0016c0021	a0008c0022t0002 a0012c0015t0006 a0012c0015t0007 others(1): Show a0008c0022t0002 a0012c0015t0006 a0012c0015t0007 a0016c0021t0002	a0008c0022t0002g0156 a0012c0015t0006g0174 a0012c0015t0007g0175 others(1): Show a0008c0022t0002g0156 a0012c0015t0006g0174 a0012c0015t0007g0175 a0016c0021t0002g0157	4	386	0.0104	40	c.232 others(59): Show c.2320-1501_2320-1462dupCGGGCGTGGCGGTAGATGGGGCAGAG GCTGCAGCAGGAGC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22			chr10	TogoVar
ADAMTS13_chr9_133417367_133464386	133460471	C C	CGGCGGGG others(33): Show CGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01891.hp1 others(9): Show HG01099.hp2 HG01433.hp1 HG01891.hp1 HG02055.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0003 a0012c0060 a0001c0001 a0003c0003 a0012c0060	a0001c0001t0001 a0003c0003t0001 a0012c0060t0001 a0001c0001t0001 a0003c0003t0001 a0012c0060t0001	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0289 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0298 a0012c0060t0001g0198	12	364	0.0330	40	c.12 others(51): Show c.1291_*1292insGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGC GGCGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1086		chr9	TogoVar
ADAMTS15_chr11_130443645_130481645	130470149	T T	TATATATA others(33): Show TATATATATATACACATGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	398	0.0025	40	c.172 others(57): Show c.1720+712_1720+713insATATATATACACATGTATATATATATAT ATATATATACAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100058268	C C	CCCTATCC others(33): Show CCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02015.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG02015.hp2 NA18964.hp2 NA19009.hp2 NA19012.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0002c0001 a0003c0009 others(3): Show a0001c0002 a0002c0001 a0003c0009 a0004c0003 a0004c0028 a0005c0020	a0001c0002t0002 a0002c0001t0038 a0003c0009t0050 others(3): Show a0001c0002t0002 a0002c0001t0038 a0003c0009t0050 a0004c0003t0001 a0004c0028t0001 a0005c0020t0005	a0001c0002t0002g0169 a0002c0001t0038g0051 a0003c0009t0050g0086 others(4): Show a0001c0002t0002g0169 a0002c0001t0038g0051 a0003c0009t0050g0086 a0004c0003t0001g0136 a0004c0028t0001g0155 a0005c0020t0005g0220 a0005c0020t0005g0221	7	228	0.0307	40	c.213 others(59): Show c.2138-4215_2138-4214insAGGGTTAGAGCCGGGATAGGGGTGTT AGAGCCGGGATAGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar

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