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
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	7	0.1429	34	c.102 others(53): Show c.1026-1053_1026-1052insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	166	0.0060	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATATA TAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	166	0.0060	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATATA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	166	0.0060	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	166	0.0060	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18955.hp2 HG00280.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0030 a0002c0002t0004g0096 a0002c0002t0002g0030 a0002c0002t0004g0096	2	167	0.0120	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATAGAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18962.hp1 HG03130.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0061 a0001c0001t0001g0194 a0001c0001t0002g0061	2	167	0.0120	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATAGAGAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	189	0.0053	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTCTCTCTATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	189	0.0053	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTCTATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19091.hp1 NA18941.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0068 a0001c0001t0002g0078	2	190	0.0105	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTATATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	189	0.0053	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTATATATATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49049824	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	21	0.0476	34	c.224 others(53): Show c.224+18394_224+18395insATATATATATATATATATATATATAT ATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01346.hp2 others(5): Show HG00639.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG03139.hp1 NA18612.hp2 NA18999.hp1 NA19009.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0003c0008t0002	a0001c0001t0001g0116 a0001c0001t0003g0151 a0001c0001t0004g0038 others(5): Show a0001c0001t0001g0116 a0001c0001t0003g0151 a0001c0001t0004g0038 a0001c0001t0004g0084 a0002c0002t0002g0043 a0002c0002t0002g0064 a0002c0002t0002g0099 a0003c0008t0002g0083	8	73	0.1096	34	c.409 others(53): Show c.409+25446_409+25447insATATATATATATATATATATATATAT ATATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	32	0.0313	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT TTTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03209.hp2 HG02040.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0160 a0002c0002t0002g0007 a0001c0001t0001g0160 a0002c0002t0002g0007	2	33	0.0606	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0139 a0010c0011t0001g0139	1	32	0.0313	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	66	0.0152	34	c.-47 others(45): Show c.-4757_-4756insTATATATATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19072.hp2 HG00597.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	67	0.0299	34	c.-47 others(45): Show c.-4757_-4756insTTTATATATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FTHL17_chrX_31066233_31077041	31066832	T T	TATGTGTA others(27): Show TATGTGTATATACACACACGTGTATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01361.hp1 others(5): Show HG00741.hp2 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG02735.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	8	333	0.0240	34	c.45 others(45): Show c.4569_*4570insGTGTGTGTATATACACGTGTGTGTATATACACAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4400		chrX	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03710.hp2 HG01261.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0097 a0001c0001t0005g0050 a0001c0001t0001g0097 a0001c0001t0005g0050	2	71	0.0282	34	c.136 others(55): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 NA18949.hp2 HG03831.hp2 HG03834.hp2 NA18949.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0229 a0002c0004t0001g0254 a0002c0004t0001g0271 a0002c0004t0001g0229 a0002c0004t0001g0254 a0002c0004t0001g0271	3	71	0.0423	34	c.-32 others(55): Show c.-326+20604_-326+20605insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677162	A A	ACGTGTGT others(27): Show ACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19240.hp2 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0217 a0001c0001t0009g0218	2	362	0.0055	34	c.835 others(51): Show c.835+7682_835+7683insCGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10			chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAGAAG others(27): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp2 HG02615.hp2 others(1): Show HG02055.hp1 HG02300.hp2 HG02615.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0330 others(1): Show a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331	4	16	0.2500	34	c.165 others(51): Show c.165+1339_165+1340insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FXR2_chr17_7586230_7619897	7610015	T T	TACATGTA others(27): Show TACATGTATATGTATACATGTATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	424	0.0024	34	c.82- others(49): Show c.82-3900_82-3867dupGTATATATATACATACATGTATACATATAC ATGT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18982.hp2 NA19062.hp2 HG02602.hp2 NA18982.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	296	0.0101	34	c.-45 others(45): Show c.-4559_-4558insTATATATATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD4_chr10_43366636_43381335	43367433	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	424	0.0024	34	c.-45 others(45): Show c.-4543_-4542insTATATATATATATATATATATATATATATATATG	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4202		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01255.hp1 HG01261.hp1 HG01981.hp1 HG02293.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0022 a0001c0001t0003g0040 a0002c0002t0001g0088 a0001c0001t0003g0022 a0001c0001t0003g0040 a0002c0002t0001g0088	7	71	0.0986	34	c.292 others(49): Show c.292+447_292+448insCACACACACACACACACACACACACACACA CACA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB1_chr5_39100252_39224563	39148153	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	137	0.0073	34	c.129 others(53): Show c.1292+5294_1292+5295insTATATATATATATATATATATATATA TATATATA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39185611	T T	TATATATA others(27): Show TATATATATACATATATATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0007 a0015c0021t0007	a0015c0021t0007g0170 a0015c0021t0007g0170	1	196	0.0051	34	c.113 others(55): Show c.1135+16214_1135+16215insGTGTGTATATATATGTATATATAT GTATATATAT	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18			chr5	TogoVar
FYTTD1_chr3_197744883_197792596	197792575	T T	TATATATA others(27): Show TATATATATATAATTATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	214	0.0047	34	c.10 others(47): Show c.10666_*10667insATATATATATAATTATATATATATATATATAT AA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4980		chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG00738.hp2 others(17): Show HG00423.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG02132.hp2 HG03041.hp1 HG03041.hp2 HG03688.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18986.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0038 a0001c0001t0049	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0027 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0006g0022 a0001c0001t0009g0118 a0001c0001t0009g0202 a0001c0001t0038g0169 a0001c0001t0049g0172	20	88	0.2273	34	c.10 others(47): Show c.10668_*10669insTATATATATATATATATATATATATATATATA TA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZD6_chr8_103293898_103337866	103328605	T T	TTGACATA others(27): Show TTGACATATACTATTTATCATATAGTATATGTCTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	364	0.0027	34	c.154 others(51): Show c.1541+204_1541+237dupTATCATATAGTATATGTCTGTGACATAT ACTATT	FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01993.hp2 HG02109.hp1 others(3): Show HG00544.hp1 HG01993.hp2 HG02109.hp1 HG03139.hp1 NA18997.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0017 a0001c0001t0020	a0001c0001t0017g0059 a0001c0001t0017g0078 a0001c0001t0017g0082 others(3): Show a0001c0001t0017g0059 a0001c0001t0017g0078 a0001c0001t0017g0082 a0001c0001t0020g0085 a0001c0001t0020g0096 a0001c0001t0020g0099	6	138	0.0435	34	c.21 others(45): Show c.2134_*2135insTATATATATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG00738.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0003g0025 a0001c0001t0002g0029 a0001c0001t0003g0025	2	139	0.0144	34	c.72+ others(51): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	91	0.0110	34	c.72+ others(51): Show c.72+36611_72+36612insAATATATATATATATATATATATATATA TATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78398021	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0134 a0001c0003t0004g0134	1	242	0.0041	34	c.75+ others(51): Show c.75+19624_75+19625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436288	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18982.hp2 HG02683.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0116 a0001c0002t0003g0096 a0001c0001t0003g0116 a0001c0002t0003g0096	2	156	0.0128	34	c.123 others(55): Show c.1236+17692_1236+17693insTTATGGATATATATATATATATAT ATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	7	0.1429	34	c.321 others(53): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC ACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0032 a0001c0007t0015g0032	1	7	0.1429	34	c.321 others(53): Show c.321+60300_321+60301insCTATCTATACACACACACACACACAC ACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0021 a0002c0022t0021	a0002c0022t0021g0060 a0002c0022t0021g0060	1	17	0.0588	34	c.321 others(53): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50309974	A A	ATTTTAGA others(27): Show ATTTTAGATTTTAGATTTTAGATTTATATTTGGAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0279 a0001c0001t0004g0279	1	366	0.0027	34	c.1-1 others(45): Show c.1-177_1-176insATCCAAATATAAATCTAAAATCTAAAATCTAAAA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50337075	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0245 a0001c0001t0006g0245	1	309	0.0032	34	c.-1+ others(51): Show c.-1+17876_-1+17909dupTATATATATATATATATATATATATATA TATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 NA21309.hp2 HG02257.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0032 a0001c0001t0012 a0001c0001t0013 a0001c0001t0032	a0001c0001t0012g0154 a0001c0001t0013g0087 a0001c0001t0032g0063 a0001c0001t0012g0154 a0001c0001t0013g0087 a0001c0001t0032g0063	3	98	0.0306	34	c.857 others(51): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT ATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152231142	T T	TAGATATA others(27): Show TAGATATATACACACATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	202	0.0050	34	c.552 others(51): Show c.552-6298_552-6297insGTGTGTATATATACATATATGTGTGTAT ATATCT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	5/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47333085	A A	AAAATATA others(27): Show AAAATATATACATATTTTTATATTCATATATTTAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	156	0.0064	34	c.544 others(53): Show c.544+12885_544+12918dupACATATTTTTATATTCATATATTTAT AAATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0052 a0001c0001t0030g0052	1	127	0.0079	34	c.108 others(53): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0066 a0001c0001t0018g0147 a0001c0001t0018g0066 a0001c0001t0018g0147	2	128	0.0156	34	c.108 others(53): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATATAAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01258.hp2 HG02486.hp1 others(2): Show HG00673.hp2 HG01258.hp2 HG02486.hp1 HG02559.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0124 others(2): Show a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0003g0114	5	139	0.0360	34	c.108 others(53): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03927.hp2 HG00733.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0168 a0001c0001t0024g0115 a0001c0001t0001g0168 a0001c0001t0024g0115	2	114	0.0175	34	c.108 others(53): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0197 a0001c0001t0014g0198 a0001c0001t0014g0197 a0001c0001t0014g0198	2	70	0.0286	34	c.108 others(53): Show c.1081-6057_1081-6056insATATATATATATATATATATATATAT ATATATAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar

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