Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GP1BB_chr22_19718539_19729771	19726364	A A	ACGCTGTG others(93): Show ACGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGG GGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03710.hp1 NA18942.hp2 others(1): Show HG02809.hp1 HG03710.hp1 NA18942.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	394	0.0102	100	c.19 others(111): Show c.1900_*1901insCGCTGTGGACGCCGTGAGGACGCTGTCGGGGCCG TGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCT GTGGACGCGGTGAGGG	GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding		1594		chr22	TogoVar
GPC5_chr13_91393621_92872237	91571778	C C	CACACATA others(93): Show CACACATATACGTGTGTGTATATATACACACACGTACGTGTGTGTATATA TACACATATACGTGTGTGTATATATACACACACGTACGTGTGTGTATATA T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	41	0.0244	100	c.326 others(121): Show c.326-121377_326-121376insGTACGTGTGTGTATATATACACAT ATACGTGTGTGTATATATACACACACGTACGTGTGTGTATATATACACAT ATACGTGTGTGTATATATACACACAC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66629173	A A	ATATTTAT others(93): Show ATATTTATATACGTATATAAATATATATTTATATACGTATATAAATATGT ATATAAATATATATTTATATACGTATATAAATATGTATATAAATATATAT T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	108	0.0093	100	c.65- others(117): Show c.65-51931_65-51930insTTATATACGTATATAAATATATATTTAT ATACGTATATAAATATGTATATAAATATATATTTATATACGTATATAAAT ATGTATATAAATATATATTTAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683357	T T	TGTTCATA others(93): Show TGTTCATATATATATGTTCATATATATGTATATGTTCATATATATGTACA TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTT C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	223	0.0045	100	c.143 others(117): Show c.143+2172_143+2173insGTTCATATATATATGTTCATATATATGT ATATGTTCATATATATGTACATATATATGTTCATATATATATGTTCATAT ATATATGTTCATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TATATATA others(93): Show TATATATATATATGTTCATATATATATGTTCATATATATGTATATGTTCA TATATATGTACATATATATGTTCATATATATATGTTCATATATATATGTT C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	206	0.0049	100	c.143 others(117): Show c.143+2194_143+2195insATATGTTCATATATATATGTTCATATAT ATGTATATGTTCATATATATGTACATATATATGTTCATATATATATGTTC ATATATATATGTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TTCATATA others(93): Show TTCATATATATATGTTCATATATATATGTTCATATATATGTATATGTTCA TATATATGTACATATATATGTTCATATATATATGTTCATATATATATGTT C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp2 HG02109.hp2 others(1): Show HG01255.hp1 HG01934.hp2 HG02109.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0098	4	209	0.0191	100	c.143 others(117): Show c.143+2186_143+2187insTCATATATATATGTTCATATATATATGT TCATATATATGTATATGTTCATATATATGTACATATATATGTTCATATAT ATATGTTCATATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218278	C C	CAACACCA others(93): Show CAACACCACCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACC ACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCACCCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	35	0.0286	100	c.27 others(111): Show c.2760_*2761insAACACCACCCCCAACACCCCAATAACCCCCCAAC ACCACCACCAACACCACCACAACACCATCCCCAACACCACCCCCAATACC ACCCCCACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1109		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218278	C C	CAACACCA others(93): Show CAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACC ACCACAACACCATCCCCAACACCACCCCCAACACCACCCCCACCACCCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	35	0.0286	100	c.27 others(111): Show c.2760_*2761insAACACCATCCCCAACACCCCAATAACCCCCCAAC ACCACCACCAACACCACCACAACACCATCCCCAACACCACCCCCAACACC ACCCCCACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1109		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218278	C C	CAACACCA others(93): Show CAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACC ACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCACCCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	35	0.0286	100	c.27 others(111): Show c.2760_*2761insAACACCATCCCCAACACCCCAATAACCCCCCAAC ACCACCACCAACACCACCACAACACCATCCCCAACACCACCCCCAATACC ACCCCCACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1109		chr8	TogoVar
GPR139_chr16_20023239_20078890	20041128	A A	AAGGAAAG others(93): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0039 a0001c0001t0022g0039	1	85	0.0118	100	c.128 others(117): Show c.128-8460_128-8459insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTTTCCT	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR158_chr10_25170001_25607229	25241372	C C	CTCTCTTC others(93): Show CTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0018 a0002c0002t0012g0018	1	54	0.0185	100	c.100 others(121): Show c.1008+20256_1008+20257insCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTCTCTTCTCTTCTCTT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRIK1_chr21_29531933_29944996	29707442	C C	CCCTTCCT others(93): Show CCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01952.hp1 HG01192.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0036 a0001c0003t0001g0018 a0001c0001t0001g0036 a0001c0003t0001g0018	2	143	0.0140	100	c.119 others(119): Show c.119-13380_119-13379insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGAAGGAAGGAAGGGAGGAAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888161	T T	TTTTCTTT others(93): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	99	0.0101	100	c.118 others(119): Show c.118+51221_118+51222insGAAAGAAAGAAAGAAAGAAAGGAAGG AAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRM5_chr11_88499642_89070982	88687571	A A	ATTATATA others(93): Show ATTATATATATATTATATATATATTATATATATATAATATATATATTATA TATATATTATATATATTATATATATATTATATATATTATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	87	0.0115	100	c.912 others(119): Show c.912-34169_912-34168insATATATATATATATAATATATATAAT ATATATATAATATATATAATATATATATAATATATATATTATATATATAT AATATATATATAATATATATATAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7103764	T T	TTCTCTTT others(93): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTGTCTCTCTCTCCCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	69	0.0145	100	c.520 others(119): Show c.520-42685_520-42684insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTCTCTGTCTCTCTCTCCCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTCTCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSG1L_chr16_27782528_28068714	27828111	A A	ACCTATTG others(93): Show ACCTATTGATCCATCCATTCATCCAGCCATCCATCTACCTACCCATCCAC CCGCTCACCTGTCCAGCCATCTGTCTATCCATCTACCCATCCACTCACTC T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG03139.hp1 others(5): Show HG02486.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010	a0001c0001t0002g0047 a0001c0001t0004g0227 a0001c0001t0010g0024 others(5): Show a0001c0001t0002g0047 a0001c0001t0004g0227 a0001c0001t0010g0024 a0001c0002t0001g0095 a0001c0002t0001g0102 a0001c0002t0009g0014 a0001c0002t0009g0106 a0001c0002t0010g0008	8	238	0.0336	100	c.830 others(115): Show c.830+578_830+677dupAGAGTGAGTGGATGGGTAGATGGATAGACA GATGGCTGGACAGGTGAGCGGGTGGATGGGTAGGTAGATGGATGGCTGGA TGAATGGATGGATCAATAGG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	5/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27869795	T T	TTGTCTCT others(93): Show TTGTCTCTGTCTCCCTCCATCTCTCTCTCTCTGTCTCCCTCCATCTCTCT CTCCATCTCTCTCTGTCTCTGTCTCCCTCCATCTCTCTCTCCATCTCTCT C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0085 a0001c0001t0028g0085	1	238	0.0042	100	c.550 others(119): Show c.550+14690_550+14691insGAGAGAGATGGAGAGAGAGATGGAGG GAGACAGAGACAGAGAGAGATGGAGAGAGAGATGGAGGGAGACAGAGAGA GAGAGATGGAGGGAGACAGAGACA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169639	A A	ATAATGTA others(93): Show ATAATGTATATTATATAATATATTGTATATTATATAATATATTGTATATT ATATAATATATTGTATATTGTATAATATATTGTATATTGTATAATATATT G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0056 a0001c0001t0042g0056	1	380	0.0026	100	c.-34 others(115): Show c.-34-829_-34-828insATGTATATTATATAATATATTGTATATTAT ATAATATATTGTATATTATATAATATATTGTATATTGTATAATATATTGT ATATTGTATAATATATTGTA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106968776	T T	TAGACCAT others(93): Show TAGACCATAACATTGGTGCAATACAGTGTCTAAGCTGCCCACAAAGGCTA AAATAAAATTCATTTATAACACAGTGGAAAATTCTGAAAAGTACTTCCAA A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp2 HG01081.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0027 a0002c0011t0013 a0001c0001t0027 a0002c0011t0013	a0001c0001t0027g0001 a0002c0011t0013g0031 a0001c0001t0027g0001 a0002c0011t0013g0031	2	19	0.1053	100	c.487 others(117): Show c.487+9842_487+9843insTTTGGAAGTACTTTTCAGAATTTTCCAC TGTGTTATAAATGAATTTTATTTTAGCCTTTGTGGGCAGCTTAGACACTG TATTGCACCAATGTTATGGTCT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106968776	T T	TAGACCAT others(93): Show TAGACCATAACATTGGTGCATAACAGTGTCTAAGCTGCCCACAAAGGCTA AAATAAAATTCATTTATAACACAGTGGAAAATTCTGAAAAGTACTTCCAA A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(232): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(95): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0017 a0001c0002t0021 a0001c0002t0032 a0001c0002t0039 a0001c0002t0067 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0014 a0001c0003t0016 a0001c0003t0018 a0001c0003t0029 a0001c0003t0034 a0001c0003t0050 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0023 a0001c0004t0058 a0001c0005t0003 a0001c0005t0004 a0001c0005t0009 a0001c0005t0015 a0001c0005t0020 a0001c0006t0005 a0001c0006t0006 a0001c0006t0025 a0001c0007t0005 a0001c0007t0042 a0001c0008t0054 a0001c0008t0070 a0001c0009t0001 a0001c0010t0005 a0001c0013t0004 a0001c0014t0001 a0001c0015t0068	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(232): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0138 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0003g0014 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0150 a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0143 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0027 a0001c0001t0005g0100 a0001c0001t0005g0106 a0001c0001t0005g0124 a0001c0001t0005g0139 a0001c0001t0005g0159 a0001c0001t0005g0170 a0001c0001t0006g0036 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0006g0140 a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0175 a0001c0001t0007g0010 a0001c0001t0007g0026 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0149 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0169 a0001c0001t0008g0022 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0058 a0001c0001t0008g0081 a0001c0001t0008g0148 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0119 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0105 a0001c0001t0010g0127 a0001c0001t0011g0123 a0001c0001t0011g0130 a0001c0001t0011g0136 a0001c0001t0011g0137 a0001c0001t0011g0141 a0001c0001t0012g0092 a0001c0001t0012g0108 a0001c0001t0013g0032 a0001c0001t0013g0064 a0001c0001t0013g0065 a0001c0001t0015g0109 a0001c0001t0015g0112 a0001c0001t0016g0172 a0001c0001t0017g0076 a0001c0001t0019g0090 a0001c0001t0022g0028 a0001c0001t0022g0113 a0001c0001t0023g0012 a0001c0001t0024g0153 a0001c0001t0024g0166 a0001c0001t0026g0068 a0001c0001t0028g0073 a0001c0001t0030g0168 a0001c0001t0033g0004 a0001c0001t0035g0077 a0001c0001t0036g0120 a0001c0001t0037g0079 a0001c0001t0038g0097 a0001c0001t0040g0083 a0001c0001t0041g0067 a0001c0001t0043g0041 a0001c0001t0044g0029 a0001c0001t0045g0111 a0001c0001t0046g0030 a0001c0001t0048g0003 a0001c0001t0049g0152 a0001c0001t0051g0117 a0001c0001t0052g0122 a0001c0001t0053g0104 a0001c0001t0055g0099 a0001c0001t0057g0038 a0001c0001t0059g0057 a0001c0001t0060g0061 a0001c0001t0062g0005 a0001c0001t0063g0134 a0001c0001t0064g0147 a0001c0001t0065g0011 a0001c0001t0066g0002 a0001c0001t0069g0101 a0001c0001t0071g0082 a0001c0001t0072g0095 a0001c0002t0001g0202 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0201 a0001c0002t0003g0228 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0005g0222 a0001c0002t0006g0189 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0012g0177 a0001c0002t0012g0181 a0001c0002t0017g0224 a0001c0002t0021g0178 a0001c0002t0021g0179 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0002t0067g0176 a0001c0003t0002g0229 a0001c0003t0002g0239 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0240 a0001c0003t0003g0243 a0001c0003t0003g0247 a0001c0003t0004g0235 a0001c0003t0004g0236 a0001c0003t0004g0249 a0001c0003t0009g0237 a0001c0003t0009g0251 a0001c0003t0014g0241 a0001c0003t0014g0245 a0001c0003t0014g0248 a0001c0003t0016g0238 a0001c0003t0016g0246 a0001c0003t0018g0253 a0001c0003t0018g0254 a0001c0003t0029g0242 a0001c0003t0034g0244 a0001c0003t0050g0252 a0001c0004t0001g0190 a0001c0004t0001g0212 a0001c0004t0001g0219 a0001c0004t0002g0211 a0001c0004t0002g0214 a0001c0004t0002g0221 a0001c0004t0003g0223 a0001c0004t0005g0205 a0001c0004t0005g0227 a0001c0004t0006g0199 a0001c0004t0006g0218 a0001c0004t0006g0220 a0001c0004t0006g0226 a0001c0004t0023g0225 a0001c0004t0058g0217 a0001c0005t0003g0051 a0001c0005t0003g0052 a0001c0005t0003g0053 a0001c0005t0004g0048 a0001c0005t0009g0049 a0001c0005t0015g0044 a0001c0005t0020g0046 a0001c0005t0020g0047 a0001c0006t0005g0203 a0001c0006t0005g0210 a0001c0006t0005g0213 a0001c0006t0006g0216 a0001c0006t0025g0200 a0001c0006t0025g0209 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0007t0042g0133 a0001c0008t0054g0020 a0001c0008t0070g0024 a0001c0009t0001g0135 a0001c0010t0005g0171 a0001c0013t0004g0250 a0001c0014t0001g0255 a0001c0015t0068g0256	235	252	0.9325	100	c.487 others(117): Show c.487+9842_487+9843insTTTGGAAGTACTTTTCAGAATTTTCCAC TGTGTTATAAATGAATTTTATTTTAGCCTTTGTGGGCAGCTTAGACACTG TTATGCACCAATGTTATGGTCT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GYG2_chrX_2823930_2887818	2844508	A A	ATGTGTAT others(93): Show ATGTGTATACGCACGCATGCGTATGTGTGTATACGCACGCATGCGTATGT GTGTATACGCACACGCATGCGTATGTGTGTATACGCACACGCATGCGTAT G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0005	a0011c0011t0005g0042 a0011c0011t0005g0042	1	313	0.0032	100	c.149 others(117): Show c.149+1167_149+1168insGCATGCGTATGTGTGTATACGCACGCAT GCGTATGTGTGTATACGCACACGCATGCGTATGTGTGTATACGCACACGC ATGCGTATGTGTGTATACGCAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845553	T T	TTATATAC others(93): Show TTATATACACATGTGTGTATGTATATTTATATACACATGTGTGTATGTAT ATTTATATACACATGTGTGTATGTATATTTATATACACATGTGTGTATGT A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	121	0.0083	100	c.149 others(117): Show c.149+2208_149+2209insATGTGTGTATGTATATTTATATACACAT GTGTGTATGTATATTTATATACACATGTGTGTATGTATATTTATATACAC ATGTGTGTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAAA others(93): Show AAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0256 a0003c0003t0001g0256	1	180	0.0056	100	c.106 others(119): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTTTCTTTTCTTTCTTTTCTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HCN2_chr19_584881_622159	604795	G G	GGGGGTCC others(93): Show GGGGGTCCTGCAGTGAAGGCTGTAGAGGTGGGCGGGGGTCCTGGGGTGGG GGCTGTGGGTTTGGAGGGCAGGGGTCCCGGGGCAGGGCTGCAGGGTGGGG T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0004 a0001c0042t0004	a0001c0042t0004g0015 a0001c0042t0004g0015	1	406	0.0025	100	c.105 others(117): Show c.1057-263_1057-262insGTCCTGCAGTGAAGGCTGTAGAGGTGGG CGGGGGTCCTGGGGTGGGGGCTGTGGGTTTGGAGGGCAGGGGTCCCGGGG CAGGGCTGCAGGGTGGGGTGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(93): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAAATATATAACATATAAATATATATAATATATAAATA T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02896.hp2 others(3): Show HG02451.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG06807.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0003g0081 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0003g0081 a0001c0001t0003g0082 a0002c0002t0001g0095 a0005c0007t0001g0096	6	132	0.0455	100	c.199 others(115): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAAATATATAACATATAAA TATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	16	0.0625	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GAACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02809.hp2 NA19089.hp2 HG01192.hp1 HG02809.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0082	3	18	0.1667	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	16	0.0625	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	16	0.0625	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG01261.hp2 others(5): Show HG01167.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG02258.hp1 HG02615.hp2 HG03209.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0139 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0194 a0001c0001t0002g0167 a0002c0002t0003g0016 a0002c0002t0005g0175	8	23	0.3478	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04199.hp1 HG01978.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0130 a0001c0001t0001g0002 a0001c0001t0001g0130	2	17	0.1176	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43179666	T T	TCCCCCCA others(93): Show TCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	16	0.0625	100	c.101 others(119): Show c.1012+1452_1012+1453insCGGGGTGGCTGGCCGGGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HIGD1C_chr12_50947544_50975607	50948895	G G	GGGGAGGG others(93): Show GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	322	0.0031	100	c.-38 others(111): Show c.-3884_-3883insGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGGAGGGGAGGGGTA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3648		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948909	G G	GGGGGAGG others(93): Show GGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	356	0.0028	100	c.-38 others(111): Show c.-3870_-3869insGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3634		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014003	T T	TCCTCTCT others(93): Show TCCTCTCTTCTCCTCTCTTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0007 a0001c0001t0058g0007	1	253	0.0040	100	c.26 others(111): Show c.2622_*2623insCCTCTCTTCTCCTCTCTTCTCCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1235		chr12	TogoVar
HPS5_chr11_18273676_18327140	18276287	A A	AAGGCAGC others(93): Show AAGGCAGCTAAGGCCTAGCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCAGGCCCCCCCCGCCGCACCGACA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0345 a0001c0001t0006g0345	1	370	0.0027	100	c.35 others(111): Show c.3594_*3595insCTGTCGGTGCGGCGGGGGGGGCCTGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGC TAGGCCTTAGCTGCCT	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding		2388		chr11	TogoVar
HS3ST2_chr16_22809162_22921338	22818951	C C	CTTCCCTC others(93): Show CTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTC A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03492.hp1 HG01993.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0317 a0001c0001t0001g0157 a0001c0001t0001g0317	2	213	0.0094	100	c.485 others(117): Show c.485+3860_485+3861insCTCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTT CCTTCCTTCCTTCCTTCATTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26057820	G G	GCAGGTAG others(93): Show GCAGGTAGAGCTGAGCCTTCATCTGTCTGTGTGAAGAAGAGAGATGCAGG TCTGGGCCAGGTAAAGCCTCCCTCTTACTGTGGAGTGTATTACGGGAGTT T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0049 a0001c0007t0006g0049	1	164	0.0061	100	c.735 others(119): Show c.735-77787_735-77688dupTAGAGCTGAGCCTTCATCTGTCTGTG TGAAGAAGAGAGATGCAGGTCTGGGCCAGGTAAAGCCTCCCTCTTACTGT GGAGTGTATTACGGGAGTTTCAGG	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B11_chr4_87331515_87396188	87378885	T T	TATATAAA others(93): Show TATATAAATATATATATAAATATAAATAAATATATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATATAAATATATATATA A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG01361.hp1 others(5): Show HG01167.hp2 HG01255.hp1 HG01361.hp1 HG02004.hp1 NA18961.hp1 NA18993.hp1 NA19000.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0046 others(5): Show a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071	8	337	0.0237	100	c.318 others(117): Show c.318+3369_318+3370insTTATATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATATTTATTT ATATTTATATATATATTTATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(93): Show GCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCC TCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCC T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	28	0.0357	100	c.124 others(115): Show c.1249-57_1249-56insGCCGCCTCCCCGCCTCCCCGCGCCGCCTCC CCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HUS1B_chr6_650939_662100	658647	A A	ATATATAT others(93): Show ATATATATATATATATATATATATTTTATATATATATATATATATATATA TATTTTATATATATATATATATTTTATATATATATATATATATATATATT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	100	c.-17 others(111): Show c.-1704_-1703insAAATATATATATATATATATATATATAAAATATA TATATATATATAAAATATATATATATATATATATATATATAAAATATATA TATATATATATATATA	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1548		chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33322511	T T	TATATATA others(93): Show TATATATACGGAATATATATACGGAATATATATACGGAATATATATACGG AATATATATACGGAATATATATACGGAATATATATACGGAATATATATGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01981.hp1 HG03239.hp1 others(2): Show HG01257.hp1 HG01981.hp1 HG03239.hp1 NA19072.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0145 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0011g0011	5	306	0.0163	100	c.-25 others(111): Show c.-2545_-2544insATATATACGGAATATATATACGGAATATATATAC GGAATATATATACGGAATATATATACGGAATATATATACGGAATATATAT ACGGAATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2458		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33337686	C C	CTGTATAC others(93): Show CTGTATACATACATATACACACATTGTGTATACATACATATACACACATT GTGTATACATACATATACACACATTGTGTATACATACATATACACACATT G	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18522.hp1 HG01934.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0014 a0002c0002t0002 a0002c0004t0014	a0002c0002t0002g0189 a0002c0004t0014g0193 a0002c0002t0002g0189 a0002c0004t0014g0193	2	189	0.0106	100	c.200 others(117): Show c.200+2110_200+2111insATTGTGTATACATACATATACACACATT GTGTATACATACATATACACACATTGTGTATACATACATATACACACATT GTGTATACATACATATACACAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATT others(93): Show AATATATTATATATTATATATTATATATAATATATATTATATATTATATA TAATATATAATATATAATATATTATATATAATATATAATTTATAATATAT T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	8	0.1250	100	c.862 others(115): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATATATTATATATTATATATAATATATAATATATATTATATATA ATATATAATATATAATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATT others(93): Show AATATATTATATATTATATATTATATATAATATATATTATATATTATATA TAATATATAATTTATAATATATTATATATAATATATAATTTATAATATAT T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(17): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp2 NA18944.hp2 NA18990.hp2 NA19005.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0009 a0002c0003t0003g0017 a0002c0003t0003g0022 others(7): Show a0002c0003t0003g0009 a0002c0003t0003g0017 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0078 a0002c0003t0003g0080 a0002c0003t0003g0081	20	27	0.7407	100	c.862 others(115): Show c.862-890_862-889insAATATATTATAAATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATATTATATATA ATATATAATATATAATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	ATAATATA others(93): Show ATAATATATTATATATTATATATAATATATAATATATTATATATTATATA TAATATATAATTTATAATATATTATATATAATATATAATATATTATATAT T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	8	0.1250	100	c.862 others(115): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATATATTA	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IGF2R_chr6_159964082_160116504	159980215	G G	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0260 a0001c0005t0009g0260	1	301	0.0033	100	c.149 others(119): Show c.149+10838_149+10839insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGAAAAGAAAGAAAGAAAGAA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	159980218	A A	AGAAAGAA others(93): Show AGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0060 a0028c0033t0060	a0028c0033t0060g0140 a0028c0033t0060g0140	1	294	0.0034	100	c.149 others(119): Show c.149+10830_149+10831insGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGAA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	159980226	A A	AGAAGGAA others(93): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0256 a0002c0003t0001g0256	1	290	0.0034	100	c.149 others(119): Show c.149+10834_149+10835insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	159980231	G G	GGAAGAAA others(93): Show GGAAGAAAGGAAGAAAGGAAGGAAGAAAGAAAGGAAGAAAGAAAGGAAGA AAGAAAGGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0076	a0001c0002t0076g0293 a0001c0002t0076g0293	1	297	0.0034	100	c.149 others(119): Show c.149+10836_149+10837insGAAGAAAGGAAGAAAGGAAGGAAGAA AGAAAGGAAGAAAGAAAGGAAGAAAGAAAGGAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAGA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47			chr6	TogoVar

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