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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03017.hp1 HG00558.hp2 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0317 a0001c0003t0002g0318	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 NA18906.hp1 HG01981.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0294 a0001c0009t0002g0367 a0001c0003t0002g0294 a0001c0009t0002g0367	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA19081.hp1 HG02723.hp2 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0004 a0001c0003t0001 a0001c0005t0004	a0001c0003t0001g0132 a0001c0005t0004g0177 a0001c0003t0001g0132 a0001c0005t0004g0177	2	412	0.0049	30	c.41 others(41): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02896.hp1 NA19058.hp1 HG00733.hp2 HG02896.hp1 NA19058.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0002 a0005c0014 a0011c0029 a0002c0002 a0005c0014 a0011c0029	a0002c0002t0050 a0005c0014t0003 a0011c0029t0002 a0002c0002t0050 a0005c0014t0003 a0011c0029t0002	a0002c0002t0050g0317 a0005c0014t0003g0199 a0011c0029t0002g0163 a0002c0002t0050g0317 a0005c0014t0003g0199 a0011c0029t0002g0163	3	322	0.0093	30	c.127 others(47): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03453.hp2 HG03710.hp2 others(1): Show HG00642.hp2 HG03453.hp2 HG03710.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002	a0002c0002t0002g0038 a0002c0002t0002g0128 a0002c0002t0003g0266 others(1): Show a0002c0002t0002g0038 a0002c0002t0002g0128 a0002c0002t0003g0266 a0002c0005t0002g0057	4	322	0.0124	30	c.127 others(47): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATTTAT others(23): Show TTATTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	322	0.0031	30	c.127 others(47): Show c.1272+388_1272+389insTATATATATATATATATATATATATAAA TA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG02015.hp1 HG02451.hp2 others(2): Show HG01255.hp2 HG02015.hp1 HG02451.hp2 NA18957.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0015 a0002c0003t0041 a0002c0002t0015 a0002c0003t0041	a0002c0002t0015g0194 a0002c0002t0015g0206 a0002c0002t0015g0219 others(2): Show a0002c0002t0015g0194 a0002c0002t0015g0206 a0002c0002t0015g0219 a0002c0002t0015g0223 a0002c0003t0041g0063	5	254	0.0197	30	c.17 others(39): Show c.173_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17				202		chr16	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	357	0.0028	30	c.93+ others(45): Show c.93+2806_93+2835dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	357	0.0028	30	c.642 others(47): Show c.642-2334_642-2333insATATATATATATATTTTTTTTTTTTTTT TT		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0003 a0013c0015t0003	a0013c0015t0003g0014 a0013c0015t0003g0014	2	392	0.0051	30	c.149 others(39): Show c.1496_1497insCCCGGCCCCGGCCCCGGCCCCATCCCCGGC	p.Ala others(43): Show p.Ala499_Pro500insProAlaProAlaProAlaProSerProAla	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding	3/4	1637/2245	1496/1959	499/652			chr19	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG01099.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0015 a0002c0002t0004 a0002c0003t0003 a0001c0001t0015 a0002c0002t0004 a0002c0003t0003	a0001c0001t0015g0037 a0002c0002t0004g0035 a0002c0002t0004g0036 others(6): Show a0001c0001t0015g0037 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014	9	426	0.0211	30	c.-42 others(49): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605036	A A	ATATATAT others(23): Show ATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0034 a0002c0002t0004g0034	1	426	0.0024	30	c.-42 others(49): Show c.-429+1509_-429+1510insTATATATATATATTATATATATATAT ATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT7_chr20_34839720_34877856	34845112	T T	TCACCACC others(23): Show TCACCACCACCACCACCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	354	0.0028	30	c.18 others(39): Show c.186_*215dupGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG		GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	15/15				215		chr20	TogoVar
GGTLC2_chr22_22639614_22652898	22645133	C C	CCCCCTCC others(23): Show CCCCCTCCCAAAGTGCTGGCATTACAGGCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp2 NA21309.hp1 HG03486.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312	3	412	0.0073	30	c.-35 others(45): Show c.-35+426_-35+427insCCCTCCCAAAGTGCTGGCATTACAGGCCTC		GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42419263	T T	TATATATA others(23): Show TATATATATATATATATGTCATATTCATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0021 a0003c0005t0005 a0003c0005t0021	a0003c0005t0005g0034 a0003c0005t0021g0032 a0003c0005t0005g0034 a0003c0005t0021g0032	2	210	0.0095	30	c.-47 others(41): Show c.-4704_-4703insATATATATATATATATGTCATATTCATGAG		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding					4175		chr5	TogoVar
GHR_chr5_42418439_42726878	42576046	T T	TAATAAAA others(23): Show TAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0196 a0003c0003t0026g0196	1	210	0.0048	30	c.70+ others(47): Show c.70+10129_70+10158dupATAAAATAAAATAAAATAAAATAAAATA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02027.hp1 HG02083.hp1 others(2): Show HG01258.hp1 HG02027.hp1 HG02083.hp1 NA18995.hp2 NA19006.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0012 a0002c0002t0001 a0003c0003t0003 a0001c0004t0012 a0002c0002t0001 a0003c0003t0003	a0001c0004t0012g0177 a0002c0002t0001g0192 a0003c0003t0003g0091 others(2): Show a0001c0004t0012g0177 a0002c0002t0001g0192 a0003c0003t0003g0091 a0003c0003t0003g0153 a0003c0003t0003g0179	5	210	0.0238	30	c.70+ others(47): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAATAA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02615.hp2 HG00438.hp2 HG02615.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0138 a0003c0003t0003g0164 a0002c0002t0001g0138 a0003c0003t0003g0164	2	210	0.0095	30	c.70+ others(47): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAATAAAATAA AA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02717.hp2 NA18942.hp2 others(2): Show HG01943.hp1 HG02717.hp2 NA18942.hp2 NA18953.hp1 NA18953.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0026 a0002c0001t0002g0072 a0002c0001t0002g0073 others(2): Show a0002c0001t0002g0026 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0109 a0002c0001t0004g0074	5	376	0.0133	30	c.-44 others(47): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATATA TA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(23): Show TATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01167.hp1 others(23): Show HG00609.hp2 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG02056.hp1 HG02074.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18990.hp1 NA18995.hp1 NA19011.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0017 a0001c0001t0001 a0002c0002t0002 a0002c0002t0017	a0001c0001t0001g0171 a0002c0002t0002g0004 a0002c0002t0002g0007 others(9): Show a0001c0001t0001g0171 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0022 a0002c0002t0002g0043 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0017g0187	26	322	0.0808	30	c.-8+ others(45): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTATAT		GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7						chr5	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	322	0.0031	30	c.-8+ others(45): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTATATAT		GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7						chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19058.hp2 HG00408.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0009 a0001c0001t0004 a0001c0002t0009	a0001c0001t0004g0285 a0001c0002t0009g0130 a0001c0001t0004g0285 a0001c0002t0009g0130	2	470	0.0043	30	c.205 others(47): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4						chr16	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	444	0.0023	30	c.-30 others(47): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTCTCTCTCTATATAT AT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(23): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 HG02135.hp1 HG00673.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0377 a0001c0001t0028g0378 a0001c0001t0028g0377 a0001c0001t0028g0378	2	444	0.0045	30	c.-20 others(39): Show c.-209_-180dupCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(23): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	30	c.19 others(41): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					1965		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898131	T T	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	386	0.0052	30	c.20 others(41): Show c.2031_*2032insTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					2012		chr6	TogoVar
GJA4_chr1_34787999_34800747	34797691	G G	GAGCCGGG others(23): Show GAGCCGGGGTCAGGCTGGGGCTCTGGAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	416	0.0024	30	c.24 others(41): Show c.2476_*2477insAGCCGGGGTCAGGCTGGGGCTCTGGAACTT		GJA4	ENSG00000187513.9	transcript	ENST00000342280.5	protein_coding					1945		chr1	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA18978.hp1 NA18983.hp1 HG03710.hp1 NA18978.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0024 a0001c0002t0001g0003 a0001c0002t0001g0024	3	472	0.0064	30	c.-29 others(41): Show c.-2948_-2947insAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA		GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding					2869		chr1	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02451.hp2 others(4): Show HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0032 a0001c0001t0002g0092 a0001c0001t0004g0171 others(4): Show a0001c0001t0001g0032 a0001c0001t0002g0092 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0180 a0001c0001t0007g0103 a0001c0001t0008g0101	7	286	0.0245	30	c.851 others(47): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT AT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG01993.hp1 others(6): Show HG00438.hp1 HG01952.hp1 HG01993.hp1 HG02559.hp2 NA18747.hp1 NA18967.hp1 NA18975.hp2 NA18995.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0055 a0001c0001t0002g0056 others(5): Show a0001c0001t0002g0024 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061	9	318	0.0283	30	c.194 others(45): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6						chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308208	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19004.hp1 NA19074.hp1 NA18955.hp2 NA19004.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0182	3	422	0.0071	30	c.961 others(47): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 NA18959.hp2 HG02976.hp1 HG03579.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0002g0022 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0002g0022	3	394	0.0076	30	c.76- others(45): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15						chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG06807.hp2 HG02257.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0008g0256 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0008g0256	3	416	0.0072	30	c.-26 others(41): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding					2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0194 a0001c0001t0012g0194	1	416	0.0024	30	c.457 others(47): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7981238	A A	ATTTCTTT others(23): Show ATTTCTTTCTTTCTTTCTCTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18522.hp2 HG01496.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0064 a0001c0001t0065	a0001c0001t0064g0012 a0001c0001t0065g0013 a0001c0001t0064g0012 a0001c0001t0065g0013	2	416	0.0048	30	c.457 others(49): Show c.457+11448_457+11449insCTTTTTTTCTTTCTTTCTTTCTTTCT TTCT		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	416	0.0024	30	c.696 others(47): Show c.696+1047_696+1048insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(23): Show AAAGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	342	0.0029	30	c.334 others(47): Show c.334+4945_334+4946insATATATATATATATATATATATATATAC TT		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24						chr9	TogoVar
GLDC_chr9_6527467_6650729	6646315	T T	TCTCCTCC others(23): Show TCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01433.hp2 HG02572.hp2 others(3): Show HG01256.hp1 HG01433.hp2 HG02572.hp2 HG03017.hp2 NA18945.hp2 NA19030.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0002c0010 a0006c0011 others(1): Show a0001c0001 a0002c0010 a0006c0011 a0013c0024	a0001c0001t0001 a0002c0010t0001 a0006c0011t0001 others(2): Show a0001c0001t0001 a0002c0010t0001 a0006c0011t0001 a0006c0011t0004 a0013c0024t0003	a0001c0001t0001g0217 a0002c0010t0001g0008 a0002c0010t0001g0016 others(3): Show a0001c0001t0001g0217 a0002c0010t0001g0008 a0002c0010t0001g0016 a0006c0011t0001g0084 a0006c0011t0004g0085 a0013c0024t0003g0009	6	342	0.0175	30	c.-81 others(39): Show c.-817_-816insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding					587		chr9	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAAGTATA others(23): Show AAAGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	342	0.0029	30	c.775 others(47): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC TT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01928.hp1 others(4): Show HG00558.hp2 HG01070.hp1 HG01928.hp1 HG02027.hp1 HG02300.hp1 HG04204.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0013 a0001c0005t0006 a0001c0001t0006 a0001c0001t0013 a0001c0005t0006	a0001c0001t0006g0193 a0001c0001t0006g0278 a0001c0001t0006g0308 others(4): Show a0001c0001t0006g0193 a0001c0001t0006g0278 a0001c0001t0006g0308 a0001c0001t0006g0311 a0001c0001t0006g0314 a0001c0001t0013g0309 a0001c0005t0006g0307	7	342	0.0205	30	c.775 others(47): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA TA		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLI3_chr7_41955949_42242209	42170287	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0032 a0004c0014t0005g0032	1	158	0.0063	30	c.125 others(49): Show c.125-21820_125-21819insGTGTGTGTATATATATATATATATAT ATAT		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14						chr7	TogoVar
GLI3_chr7_41955949_42242209	42182658	A A	ATATATAT others(23): Show ATATATATATATATATATACATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	158	0.0063	30	c.125 others(49): Show c.125-34191_125-34190insCACACATGTATGTATATATATATATA TATA		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14						chr7	TogoVar
GLI4_chr8_143262445_143281931	143268838	T T	TTGCTGCT others(23): Show TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0077 a0004c0008t0001g0077	1	394	0.0025	30	c.-37 others(45): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG		GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG02572.hp1 others(20): Show HG00741.hp2 HG01516.hp1 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp2 NA18951.hp1 NA18959.hp1 NA18969.hp2 NA18978.hp2 NA18988.hp1 NA18993.hp1 NA19010.hp2 NA19062.hp1 NA19067.hp1 NA19079.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0003t0004g0038 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0003t0004g0038 a0002c0001t0001g0017 a0002c0001t0001g0081 a0002c0001t0001g0089 a0002c0001t0003g0017	23	394	0.0584	30	c.-37 others(45): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG		GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIS1_chr1_53501239_53744164	53709413	C C	CATATATA others(23): Show CATATATACATATATATACATATACATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0091 a0006c0007t0004g0091	1	236	0.0042	30	c.259 others(49): Show c.259+28392_259+28393insATATATGTATATGTATATATATGTAT ATAT		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0171 a0001c0001t0029g0171	1	188	0.0053	30	c.171 others(51): Show c.1710+57938_1710+57939insTCTCTCTCTCACACACACACACAC ACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19060.hp1 NA18961.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0128 a0002c0002t0010g0092 a0002c0002t0003g0128 a0002c0002t0010g0092	2	188	0.0106	30	c.171 others(51): Show c.1710+57938_1710+57939insTCACACACACACACACACACACAC ACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01891.hp2 others(21): Show HG01106.hp1 HG01192.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02486.hp1 HG03017.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 NA18945.hp1 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA19007.hp1 NA19010.hp2 NA19070.hp1 NA19075.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0002g0035	24	269	0.0892	30	c.201 others(47): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(23): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18957.hp2 NA19060.hp2 HG02056.hp1 NA18957.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0254 a0001c0001t0002g0264 a0001c0001t0002g0232 a0001c0001t0002g0254 a0001c0001t0002g0264	3	284	0.0106	30	c.912 others(47): Show c.912+1984_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(23): Show GTTTCCTTTCGTTTCCTTTCCTTTCCTTTCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	284	0.0035	30	c.912 others(47): Show c.912+2013_912+2014insTGAAAGGAAAGGAAAGGAAACGAAAGGA AA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar

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