Joint Open Genome and Omics Platform (JoGo)

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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
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(179): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18990.hp1 NA18945.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0063 a0001c0001t0001 a0001c0001t0063	a0001c0001t0001g0036 a0001c0001t0063g0053 a0001c0001t0001g0036 a0001c0001t0063g0053	2	169	0.0118	186	c.48- others(203): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(179): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTCTACGTG TACACACATATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0032 a0001c0001t0015g0032	1	169	0.0059	186	c.48- others(203): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACAT ATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(179): Show ATATATATATAAATATATATATTTATAAATATATATATTTATATATATAA ATATATATATTTATAAATATATATATTTATATATATAAATATATATATTT ATAAATATATATTTATATATATAAATATATATATTTATAAATATATATTT ATATATATAAATATATATATTTATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG03041.hp2 HG02622.hp1 HG02896.hp1 HG03041.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0007 a0004c0005t0001 a0001c0001t0001 a0002c0003t0007 a0004c0005t0001	a0001c0001t0001g0067 a0002c0003t0007g0061 a0004c0005t0001g0060 a0001c0001t0001g0067 a0002c0003t0007g0061 a0004c0005t0001g0060	3	104	0.0289	186	c.34+ others(203): Show c.34+75810_34+75811insAATATATATATTTATAAATATATATATT TATATATATAAATATATATTTATAAATATATATATTTATATATATAAATA TATATTTATAAATATATATATTTATATATATAAATATATATATTTATAAA TATATATATTTATATATATAAATATATATATTTATAAATATATATATTTA TATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AHRR_chr5_316714_443285	357220	G G	GGAGTGGA others(179): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	268	0.0037	186	c.244 others(203): Show c.244+3356_244+3357insGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357294	C C	CTCAGTCA others(179): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0200 a0003c0004t0004g0200	1	268	0.0037	186	c.244 others(203): Show c.244+3418_244+3419insGGGAAGAGCGCCCGGGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735314	T T	TATATATA others(179): Show TATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATATACATATATAAATATATATACATATATAAA TATATATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	462	0.0022	186	c.151 others(203): Show c.151+5622_151+5623insTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATTTATATATGTATATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT ATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(179): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATATACATATATAAATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02132.hp2 others(6): Show HG01256.hp1 HG01258.hp1 HG02132.hp2 HG03490.hp2 HG03492.hp1 NA18956.hp1 NA18974.hp1 NA19054.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0026	a0001c0001t0001g0073 a0001c0001t0003g0274 a0001c0001t0003g0275 others(5): Show a0001c0001t0001g0073 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0005g0281 a0001c0001t0005g0343 a0001c0001t0005g0344 a0001c0001t0005g0345 a0001c0001t0026g0006	9	462	0.0195	186	c.151 others(203): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735390	A A	AATATATA others(179): Show AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAAATATATATATACATATATAAA TATATATACATATATAAATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18968.hp2 NA19007.hp2 NA18940.hp1 NA18968.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0007g0238 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0007g0238	3	462	0.0065	186	c.151 others(203): Show c.151+5546_151+5547insTTATATATGTATATATATATTTATATAT GTATATATATTTATATATGTATATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ALLC_chr2_3653200_3707671	3690433	C C	CCTCCCCT others(179): Show CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	274	0.0037	186	c.512 others(203): Show c.512-5283_512-5282insTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKS1B_chr12_98738974_99989936	99387860	T T	TAAGAATT others(179): Show TAAGAATTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0023 a0001c0003t0004g0023	1	48	0.0208	186	c.175 others(207): Show c.1756+11770_1756+11771insGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATTACAATTCTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GAGCGGGG others(179): Show GAGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGC GCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGGCGCGCAGGGGCGGGGCGG GGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAG GGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0240 a0001c0008t0004g0240	1	396	0.0025	186	c.217 others(203): Show c.2179-105_2179-104insGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGGCGCGC AGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCAG CGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGC AGCGGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03540.hp1 NA20129.hp1 HG03139.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	3	442	0.0068	186	c.30 others(197): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA AC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0005 a0001c0001t0016g0005 a0001c0001t0006g0005 a0001c0001t0016g0005	2	442	0.0045	186	c.30 others(197): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA AC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1889400	A A	ATCTGTGA others(179): Show ATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGA GTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTG AGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGT GAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0001 a0001c0103t0001	a0001c0103t0001g0040 a0001c0103t0001g0040	1	363	0.0028	186	c.118 others(205): Show c.1182+3818_1182+3819insCTGTGAGGAGACACTGAGTGGGGTGA GGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACAC TGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCT GTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGG GGTGAGGGGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221344	T T	TATAGATA others(179): Show TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 HG01109.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0144 a0001c0001t0008g0017 a0001c0001t0001g0144 a0001c0001t0008g0017	2	274	0.0073	186	c.670 others(203): Show c.670+3467_670+3468insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATATAGATATATA TAGACATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(179): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	264	0.0038	186	c.102 others(203): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049218	A A	AGAACACA others(179): Show AGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	308	0.0033	186	c.55 others(197): Show c.5512_*5513insCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCC CCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC TCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGT TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2885		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049445	G G	GGGAACAC others(179): Show GGGAACACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGAGAACACAT GGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAA CACATGGGGGCAGAGGAGAATACATGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	308	0.0033	186	c.52 others(197): Show c.5285_*5286insTCCTCTGCCCCCATGTATTCTCCTCTGCCCCCAT GTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCC CTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCATGTATTCTCCTCTGCCCCCATGTGTT CC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2658		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(179): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAGGG AAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGGGGA GGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGGGA GGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(51): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00673.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02040.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18951.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA19007.hp1 NA19012.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0007c0009 a0010c0006 a0001c0001 a0007c0009 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0007c0009t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0007c0009t0002 a0010c0006t0002	a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0065 others(51): Show a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0214 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0007c0009t0002g0137 a0010c0006t0002g0043	54	216	0.2500	186	c.311 others(203): Show c.311-1323_311-1322insACCCTCCCCTCCCCTCCCATCTCCCCTC CCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTC TCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCC CTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCT TCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATG7_chr3_11267397_11562665	11487803	A A	AGTAGGGG others(179): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCAGCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0039 a0001c0002t0026 a0001c0002t0039	a0001c0002t0026g0281 a0001c0002t0039g0007 a0001c0002t0026g0281 a0001c0002t0039g0007	2	292	0.0069	186	c.207 others(207): Show c.2079+60878_2079+60879insTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA GCTCCCTCCCGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(179): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCTCCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG03130.hp1 others(2): Show HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp1 NA19240.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0002c0012 a0004c0006 others(1): Show a0002c0002 a0002c0012 a0004c0006 a0006c0018	a0002c0002t0006 a0002c0012t0006 a0004c0006t0006 others(1): Show a0002c0002t0006 a0002c0012t0006 a0004c0006t0006 a0006c0018t0006	a0002c0002t0006g0308 a0002c0002t0006g0309 a0002c0012t0006g0042 others(2): Show a0002c0002t0006g0308 a0002c0002t0006g0309 a0002c0012t0006g0042 a0004c0006t0006g0045 a0006c0018t0006g0310	5	378	0.0132	186	c.960 others(203): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCTCCCCCTCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP9B_chr18_79064394_79383283	79335982	A A	AGCCCTCC others(179): Show AGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	298	0.0034	186	c.202 others(203): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336043	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0193 a0002c0005t0001g0193	1	298	0.0034	186	c.202 others(203): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336063	T T	TGCTCCCC others(179): Show TGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	298	0.0034	186	c.202 others(203): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(179): Show ACCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0169 a0005c0016t0001g0169	1	298	0.0034	186	c.202 others(203): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG02818.hp2 HG01106.hp2 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103	3	298	0.0101	186	c.202 others(203): Show c.2029-465_2029-464insACCATGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	298	0.0034	186	c.202 others(203): Show c.2029-463_2029-462insCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02630.hp2 HG02922.hp2 HG01952.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097	3	298	0.0101	186	c.202 others(203): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG03540.hp2 HG02109.hp1 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0007 a0001c0006t0004 a0001c0006t0007	a0001c0006t0004g0273 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0004g0273 a0001c0006t0007g0285 a0001c0006t0007g0286	3	298	0.0101	186	c.202 others(203): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0270 a0004c0008t0001g0270	1	298	0.0034	186	c.202 others(203): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(179): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18952.hp2 NA19011.hp1 others(2): Show NA18949.hp1 NA18952.hp2 NA19011.hp1 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0081	5	298	0.0168	186	c.202 others(203): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(179): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0132 a0001c0015t0001g0132	1	298	0.0034	186	c.202 others(203): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTG CCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(179): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	298	0.0034	186	c.202 others(203): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03540.hp1 NA20129.hp1 HG03139.hp2 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0039 a0001c0007t0008g0040 a0001c0007t0008g0043 a0001c0007t0008g0039 a0001c0007t0008g0040 a0001c0007t0008g0043	3	378	0.0079	186	c.22 others(197): Show c.2219_*2220insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGAGAACTGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTG GG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0015 a0001c0007 a0005c0015	a0001c0007t0008 a0005c0015t0008 a0001c0007t0008 a0005c0015t0008	a0001c0007t0008g0277 a0005c0015t0008g0281 a0001c0007t0008g0277 a0005c0015t0008g0281	2	378	0.0053	186	c.22 others(197): Show c.2219_*2220insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTG GG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AZU1_chr19_822837_837018	833996	T T	TAAAAATA others(179): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	186	c.21 others(197): Show c.2119_*2120insAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1979		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82984480	G G	GGGGAGAG others(179): Show GGGGAGAGGCCACAGGAGGACGCAGGGAGAGGCCACAGGAGGATGCAGGG AGAGACCACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGA GGCCACAGGAGGACGCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACC ACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0039 a0001c0006t0018 a0001c0001t0039 a0001c0006t0018	a0001c0001t0039g0260 a0001c0006t0018g0015 a0001c0001t0039g0260 a0001c0006t0018g0015	2	266	0.0075	186	c.460 others(205): Show c.460-18735_460-18734insTGTGTGCTCACATGGCCTCTCCCCTG CATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGCGTC CTCCTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCCCCTGCATAATC ACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGCGTCCTCCTGT GGCCTCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(179): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGGAGG GAGGGAGGAGGGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0072 a0001c0021t0001g0072	1	184	0.0054	186	c.784 others(201): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGGAGGGAGGGAGGAGGGGAGGGAGGGAGGGAGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTTATATA others(179): Show TTTATATATATTATATATATATTTATATATATATATAATATATATATTTA TATATATATATATTATATATATATTTATATATATATATTATATATATATT TATATATATATATATATTATATATATTTATATATATATATATATTATATA TATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	216	0.0046	186	c.-2- others(203): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATAATATATATATATATATAAATATATATAATATATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATATAAATATATATATTATATATATATATAAATATATATATAAT ATATATAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(179): Show ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0003 a0001c0032t0003	a0001c0032t0003g0091 a0001c0032t0003g0091	1	386	0.0026	186	c.-81 others(205): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATATATATATACCCATGGGTATATATATATATATA TATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(179): Show ATATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19063.hp2 HG02015.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0048 a0001c0002t0001g0056	2	386	0.0052	186	c.-81 others(205): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TATATATACCCATGGGTATATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATACCCATGGGTATATATATATATATATA TATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(179): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0314 a0001c0003t0003g0314	1	386	0.0026	186	c.-81 others(205): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1431109	G G	GTCTGGTC others(179): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0116 a0002c0002t0008g0116	1	360	0.0028	186	c.92- others(201): Show c.92-4931_92-4930insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431769	G G	GTCTGGTC others(179): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	360	0.0028	186	c.92- others(201): Show c.92-4271_92-4270insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1438090	T T	TCCCCCAC others(179): Show TCCCCCACAGCTGGCACCAAAGGCCCCTGCGTCCCCCACAGCTGGCACCA AAGGCCCCTGCGTCCCCCACAGCTGGCACCAAAGGCCCCTGCGACCCCCA CAGCTGGCACCAAAGGCCCCTGCGACCCCCACAGCTGGCACCAAAGGCCC CTGCGACCCCCACAGCTGGCACCAAAGGCCCCTGCGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0069	a0002c0002t0069g0231 a0002c0002t0069g0231	1	360	0.0028	186	c.187 others(199): Show c.187-69_187-68insCCCTGCGACCCCCACAGCTGGCACCAAAGGCC CCTGCGACCCCCACAGCTGGCACCAAAGGCCCCTGCGTCCCCCACAGCTG GCACCAAAGGCCCCTGCGTCCCCCACAGCTGGCACCAAAGGCCCCTGCGA CCCCCACAGCTGGCACCAAAGGCCCCTGCGACCCCCACAGCTGGCACCAA AGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126565092	T T	TTATATAT others(179): Show TTATATATAAAATATATATTATATATAATATATAAAATATATATTATATA TAAAATATAAAATATATATTATATATAAAATATAAAATATATATTATATA TAAAATATAAAATATATATTATATATAAAATATAAAATATATATTATATA AAATATATATTATATATAATATATAAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0012 a0012c0019t0012	a0012c0019t0012g0125 a0012c0019t0012g0125	1	218	0.0046	186	c.314 others(205): Show c.314-51154_314-51153insTAATATATATTTTATATATTATATAT AATATATATTTTATATAATATATATTTTATATTTTATATATAATATATAT TTTATATTTTATATATAATATATATTTTATATTTTATATATAATATATAT TTTATATTTTATATATAATATATATTTTATATATTATATATAATATATAT TTTATATATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TATGTATA others(179): Show TATGTATACATATCTGTATACATATCTGTATACATATGTATACATATCTG TATACATATGTATACATATCTGTATACATATGTATACATATCTGTATACA TATGTATACAGATCTGTATACATATGTATACATATCTGTATACATATGTA TACATATCTGTATACATATGTATACATATCTGTATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0026 a0005c0006t0001g0026	1	342	0.0029	186	c.366 others(203): Show c.366+3806_366+3807insGTATACAGATATGTATACATATGTATAC AGATATGTATACATATGTATACAGATATGTATACATATGTATACAGATCT GTATACATATGTATACAGATATGTATACATATGTATACAGATATGTATAC ATATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATAT GTATACAT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176950	T T	TATGTATA others(179): Show TATGTATACAGATATGTATACATATGTATACAGATCTGTATACATATGTA TACAGATCTGTATACATATGTATACAGATCTGTATACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATACATATGTATACAGATCTGTA TACATATGTATACAGATATGTATACATATGTATACAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	342	0.0029	186	c.366 others(203): Show c.366+3794_366+3795insCTGTATACATATGTATACATATCTGTAT ACATATGTATACAGATCTGTATACATATGTATACAGATCTGTATACATAT GTATACATATCTGTATACATATGTATACAGATCTGTATACATATGTATAC AGATCTGTATACATATGTATACAGATCTGTATACATATGTATACATATCT GTATACAT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1031396	G G	GGGGCAGA others(179): Show GGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCT GCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAG AGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGG GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 others(2): Show a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0303 a0002c0002t0003g0304	5	326	0.0153	186	c.130 others(205): Show c.130-21254_130-21253insGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031433	G G	GGGCAGAG others(179): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGCGGCAGAGACCT GCAGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAG AGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02970.hp2 others(1): Show HG02622.hp2 HG02809.hp1 HG02970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0014g0172 others(1): Show a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0014g0172 a0001c0001t0014g0174	4	326	0.0123	186	c.130 others(205): Show c.130-21291_130-21290insGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCGCCCCCGGACCACTCTGCCCTCCCTGCA GGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar

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