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
GNG7_chr19_2506219_2707694	2637302	TGCTGGTT others(37): Show TGCTGGTTTTGTCATCAGGACAGGCAGCCACGGCCCTCACTTGGC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	204	0.0049	-44	c.-78 others(61): Show c.-78+8878_-78+8921delGCCAAGTGAGGGCCGTGGCTGCCTGTCC TGATGACAAAACCAGC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GOLGA1_chr9_124873275_124946083	124936222	TATTTCCT others(37): Show TATTTCCTCTTAAATATAGGAGCCAGTGATAATGTAGATCTGGTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0327 a0001c0005t0005g0327	1	372	0.0027	-44	c.135 others(61): Show c.135+2311_135+2354delTACCAGATCTACATTATCACTGGCTCCT ATATTTAAGAGGAAAT	GOLGA1	ENSG00000136935.14	transcript	ENST00000373555.9	protein_coding	3/22			chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132787597	TGGGACCC others(37): Show TGGGACCCTTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG02056.hp2 others(2): Show HG00642.hp2 HG01255.hp1 HG02056.hp2 HG03130.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 a0001c0001 a0001c0003 a0002c0010	a0001c0001t0030 a0001c0003t0001 a0001c0003t0004 others(2): Show a0001c0001t0030 a0001c0003t0001 a0001c0003t0004 a0001c0003t0039 a0002c0010t0038	a0001c0001t0030g0181 a0001c0003t0001g0228 a0001c0003t0004g0204 others(2): Show a0001c0001t0030g0181 a0001c0003t0001g0228 a0001c0003t0004g0204 a0001c0003t0039g0217 a0002c0010t0038g0077	5	278	0.0180	-44	c.281 others(61): Show c.2812-854_2812-811delGTGGTCTCCGGGGAGGGGTCCCGGGGTC TCCGGGGAAGGGTCCC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787605	TTCCCCGG others(37): Show TTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCACGGGACCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02717.hp1 HG02027.hp1 HG02717.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0016 a0001c0001 a0014c0016	a0001c0001t0001 a0014c0016t0019 a0001c0001t0001 a0014c0016t0019	a0001c0001t0001g0143 a0014c0016t0019g0055 a0001c0001t0001g0143 a0014c0016t0019g0055	2	193	0.0104	-44	c.281 others(61): Show c.2812-862_2812-819delGGGGTCCCGTGGTCTCCGGGGAGGGGTC CCGGGGTCTCCGGGGA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132819033	AACTGCTG others(37): Show AACTGCTGACTGGTGGGTGGGCCAGTTCACAGTCAAAGAACCAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02559.hp2 others(11): Show HG02055.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0001 a0001c0003t0014 a0001c0003t0018 others(8): Show a0001c0003t0001 a0001c0003t0014 a0001c0003t0018 a0001c0003t0043 a0001c0003t0044 a0001c0003t0062 a0001c0003t0063 a0001c0003t0064 a0001c0003t0065 a0001c0003t0081 a0002c0010t0038	a0001c0003t0001g0074 a0001c0003t0014g0071 a0001c0003t0014g0072 others(11): Show a0001c0003t0001g0074 a0001c0003t0014g0071 a0001c0003t0014g0072 a0001c0003t0014g0073 a0001c0003t0018g0076 a0001c0003t0018g0156 a0001c0003t0043g0044 a0001c0003t0044g0045 a0001c0003t0062g0069 a0001c0003t0063g0054 a0001c0003t0064g0075 a0001c0003t0065g0070 a0001c0003t0081g0308 a0002c0010t0038g0077	14	306	0.0458	-44	c.134 others(61): Show c.134-2265_134-2222delCTTGGTTCTTTGACTGTGAACTGGCCCA CCCACCAGTCAGCAGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GP6_chr19_55008705_55043264	55029336	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02738.hp1 HG04184.hp1 others(1): Show HG01496.hp1 HG02738.hp1 HG04184.hp1 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0037 a0001c0001 a0002c0002 a0002c0037	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0037t0001	a0001c0001t0001g0211 a0002c0002t0001g0135 a0002c0002t0002g0134 others(1): Show a0001c0001t0001g0211 a0002c0002t0001g0135 a0002c0002t0002g0134 a0002c0037t0001g0132	4	411	0.0097	-44	c.326 others(61): Show c.326-1518_326-1475delAAAAAATATATATATATATATATATATA TATATATATATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029338	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02897.hp1 NA18946.hp2 others(3): Show HG01175.hp1 HG02897.hp1 NA18946.hp2 NA18962.hp1 NA19010.hp2 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0205 a0002c0002t0001g0133	6	359	0.0167	-44	c.326 others(61): Show c.326-1520_326-1477delAAAAAAAATATATATATATATATATATA TATATATATATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029340	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 NA18962.hp2 HG02717.hp2 HG03041.hp1 NA18962.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0031 a0001c0001 a0019c0031	a0001c0001t0001 a0019c0031t0002 a0001c0001t0001 a0019c0031t0002	a0001c0001t0001g0154 a0001c0001t0001g0236 a0019c0031t0002g0383 a0001c0001t0001g0154 a0001c0001t0001g0236 a0019c0031t0002g0383	3	400	0.0075	-44	c.326 others(61): Show c.326-1522_326-1479delAAAAAAAAAATATATATATATATATATA TATATATATATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GPAT3_chr4_83531108_83610875	83579009	CTTCTTTC others(37): Show CTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp2 HG02809.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0318 a0001c0001t0014g0181 a0001c0001t0005g0318 a0001c0001t0014g0181	2	322	0.0062	-44	c.209 others(61): Show c.209-2552_209-2509delTTCTTTCCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11			chr4	TogoVar
GPC5_chr13_91393621_92872237	92385417	TATACATA others(37): Show TATACATATATACATATATACATATATACATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG02896.hp1 others(2): Show HG01109.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0004t0001g0024	5	38	0.1316	-44	c.156 others(67): Show c.1561+240430_1561+240473delTACATATATACATATATACATA TATACATATATACATATATACA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPD1L_chr3_32101620_32173709	32121501	CTCTCTAT others(37): Show CTCTCTATATATATTTCTCTCTATATATATTTCTATGTATATATT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02257.hp2 others(11): Show HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp2 HG02976.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0107 a0001c0001t0001g0108 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0308 a0001c0001t0002g0280	14	283	0.0495	-44	c.48- others(59): Show c.48-6571_48-6528delCTATATATATTTCTCTCTATATATATTTCT ATGTATATATTTCT	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPD2_chr2_156431379_156591403	156489863	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCCCTCCCCTCCCCTCCTTCCTTCACTACCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0159 a0002c0002t0005g0159	1	252	0.0040	-44	c.103 others(61): Show c.103-6170_103-6127delCTTCCCCTCCCCTCCCCTCCTTCCTTCA CTACCCTCCTTCCTTC	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPR151_chr5_146508144_146521190	146520651	TATATATA others(37): Show TATATATATATATATATATATATATATATATGTACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02074.hp1 HG02080.hp1 others(17): Show HG01943.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02257.hp2 HG02735.hp1 HG03710.hp2 NA18939.hp1 NA18940.hp2 NA18946.hp1 NA18959.hp1 NA18968.hp1 NA18972.hp2 NA18983.hp1 NA19004.hp2 NA19007.hp2 NA19057.hp1 NA19058.hp1 NA19083.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	20	417	0.0480	-44	c.-45 others(55): Show c.-4582_-4539delGTGTGTGTGTGTACATATATATATATATATATAT ATATATATAT	GPR151	ENSG00000173250.3	transcript	ENST00000311104.3	protein_coding		4462		chr5	TogoVar
GPR174_chrX_79139688_79180318	79141738	CTATGCAG others(37): Show CTATGCAGAGCCATGGCTCTTCATATGCAGAGCCATGGCTCTTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA18966.hp1 HG02723.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0001 a0002c0002t0003g0066 a0001c0001t0001g0001 a0002c0002t0003g0066	2	227	0.0088	-44	c.-41 others(55): Show c.-4132_-4089delTATGCAGAGCCATGGCTCTTCATATGCAGAGCCA TGGCTCTTCA	GPR174	ENSG00000147138.3	transcript	ENST00000645147.2	protein_coding		2949		chrX	TogoVar
GPRIN1_chr5_176590802_176615156	176611362	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02273.hp1 HG02615.hp1 others(1): Show HG01981.hp1 HG02273.hp1 HG02615.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	4	29	0.1379	-44	c.-14 others(55): Show c.-1451_-1408delATATATATATATATATATATATATATATATATAT ATATATATAT	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		1207		chr5	TogoVar
GPX5_chr6_28520881_28539955	28528813	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	24	0.0417	-44	c.88- others(57): Show c.88-614_88-571delATATATATATATATATATATATATATATATAT ATATATATATAT	GPX5	ENSG00000224586.7	transcript	ENST00000412168.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRAMD4_chr22_46615386_46684785	46635567	GCCCCCGG others(37): Show GCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0049 a0001c0001t0010g0049	1	189	0.0053	-44	c.163 others(61): Show c.163-2272_163-2229delCCCCCGGCCACTCCTGTCCTGGGAGGCC GTGTCTTCCCTGCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998627	TATACATA others(37): Show TATACATATATATGTACACATATACATATACATATATATGTACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0131 a0004c0004t0002g0131	1	416	0.0024	-44	c.167 others(61): Show c.1678-334_1678-291delCATATATATGTACACATATACATATACA TATATATGTACACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRID1_chr10_85594552_86371795	86226547	CCTCCCAC others(37): Show CCTCCCACCCCAGCACACCCTCACTCCCACCCCAGCACACCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03195.hp1 HG02257.hp2 HG02970.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0039 a0001c0003t0057 a0001c0001t0003 a0001c0003t0039 a0001c0003t0057	a0001c0001t0003g0055 a0001c0003t0039g0053 a0001c0003t0057g0046 a0001c0001t0003g0055 a0001c0003t0039g0053 a0001c0003t0057g0046	3	34	0.0882	-44	c.236 others(63): Show c.236-19943_236-19900delTGAGGGTGTGCTGGGGTGGGAGTGAG GGTGTGCTGGGGTGGGAG	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	2/15			chr10	TogoVar
GRID2_chr4_92298966_93779566	93524783	GTGTATAT others(37): Show GTGTATATATATATATATATATATATATATATGTATGTATGTATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 NA19030.hp1 others(2): Show HG03098.hp2 HG03486.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0007 a0001c0006t0002 a0001c0001t0001 a0001c0004t0007 a0001c0006t0002	a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0004t0007g0028 a0001c0006t0002g0030	5	28	0.1786	-44	c.219 others(63): Show c.2193+9374_2193+9417delGTATATATATATATATATATATATAT ATATGTATGTATGTATAT	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRID2_chr4_92298966_93779566	93533245	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	5	0.2000	-44	c.219 others(65): Show c.2193+17863_2193+17906delCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTC	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK1_chr21_29531933_29944996	29691120	GGCCATCA others(37): Show GGCCATCATGGTGAAACCCCATCTCTAATAAAAATACAAAAATTA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	162	0.0062	-44	c.287 others(61): Show c.287-1179_287-1136delTAATTTTTGTATTTTTATTAGAGATGGG GTTTCACCATGATGGC	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	2/17			chr21	TogoVar
GRIK3_chr1_36790527_37039515	36986421	TCCATCCA others(37): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCAGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0021 a0002c0001t0001g0021	1	112	0.0089	-44	c.115 others(63): Show c.115+47529_115+47572delGCTGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGG	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15			chr1	TogoVar
GRIN2D_chr19_48388668_48449931	48427716	TGTGATCC others(37): Show TGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0314 a0001c0002t0002g0314	1	364	0.0027	-44	c.225 others(63): Show c.2252+5776_2252+5819delTCCGCCCGTCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGA	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GRM5_chr11_88499642_89070982	88687535	TATACACA others(37): Show TATACACACACACACACACATATATATTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	120	0.0083	-44	c.912 others(63): Show c.912-34176_912-34133delTATATATATATATATATAATATATAT GTGTGTGTGTGTGTGTAT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7128636	AGCTGGGA others(37): Show AGCTGGGATTACAGGTACCCACCACCACGCCCAGCTAATTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG06807.hp2 HG02145.hp1 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0001 a0001c0009t0001 a0001c0010t0002 a0001c0002t0001 a0001c0009t0001 a0001c0010t0002	a0001c0002t0001g0031 a0001c0009t0001g0049 a0001c0010t0002g0077 a0001c0002t0001g0031 a0001c0009t0001g0049 a0001c0010t0002g0077	3	76	0.0395	-44	c.520 others(63): Show c.520-17815_520-17772delGCTGGGATTACAGGTACCCACCACCA CGCCCAGCTAATTTTTTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9			chr3	TogoVar
GSG1L_chr16_27782528_28068714	27888482	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG01433.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0023 a0001c0001t0003 a0001c0002t0023	a0001c0001t0003g0215 a0001c0002t0023g0013 a0001c0001t0003g0215 a0001c0002t0023g0013	2	183	0.0109	-44	c.398 others(61): Show c.398-3888_398-3845delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSPT1_chr16_11863128_11920956	11874440	AAAAGCCA others(37): Show AAAAGCCAAGTTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	370	0.0027	-44	c.186 others(63): Show c.1861+1277_1862-1270delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGCTAACTTGGCTTT	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	14/14			chr16	TogoVar
GUCD1_chr22_24535438_24560138	24555094	CCGCCACC others(37): Show CCGCCACCGCCGCCGCTGCGGAGGAGAGAACGGGAGGCGGCGGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0041 a0001c0001t0039g0041	1	412	0.0024	-44	c.-14 others(53): Show c.-147_-104delAGCCGCCGCCTCCCGTTCTCTCCTCCGCAGCGGCGG CGGTGGCG	GUCD1	ENSG00000138867.17	transcript	ENST00000435822.6	protein_coding	1/6	104		chr22	TogoVar
GUCY2C_chr12_14607632_14701599	14696951	ATATATAA others(37): Show ATATATAAAGTGTATATATATATATATATATATATATATAAAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0213	1	208	0.0048	-44	c.-54 others(53): Show c.-547_-504delCACTTTATATATATATATATATATATATATATACAC TTTATATA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		353		chr12	TogoVar
GULP1_chr2_188286874_188600926	188368910	AATATATA others(37): Show AATATATATATATGTATATATATATGTGTGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG02559.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0019 a0001c0001t0003g0020	2	158	0.0127	-44	c.-17 others(65): Show c.-171-14840_-171-14797delGTATATATATATGTGTGTATATAT ATATATATATATATATATAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG2_chrX_2823930_2887818	2844790	ATATACAT others(37): Show ATATACATGTATGTGTATATATTTATATATACGTATGTGTATATG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18956.hp2 NA18986.hp1 others(1): Show NA18939.hp2 NA18956.hp2 NA18986.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0006 a0002c0002t0002g0148 a0002c0002t0002g0149	4	314	0.0127	-44	c.149 others(61): Show c.149+1439_149+1482delTACATGTATGTGTATATATTTATATATA CGTATGTGTATATGTA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(37): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18983.hp1 NA18985.hp1 others(1): Show NA18944.hp1 NA18983.hp1 NA18985.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0281 a0001c0001t0001g0282	4	237	0.0169	-44	c.149 others(61): Show c.149+1699_149+1742delATACACGTGTGTATGTATATTTATATAC ACGTGTGTATGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H2AC20_chr1_149881918_149892411	149886834	AAGCCATA others(37): Show AAGCCATATTAGGACCAATGAAAAACTCGTTCTTGACCCCACCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	-44	c.-14 others(52): Show c.-140_-97delAGCCATATTAGGACCAATGAAAAACTCGTTCTTGACC CCACCCC	H2AC20	ENSG00000184260.6	transcript	ENST00000331380.4	protein_coding		83		chr1	TogoVar
H2AC21_chr1_149882469_149892965	149886834	AAGCCATA others(37): Show AAGCCATATTAGGACCAATGAAAAACTCGTTCTTGACCCCACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	-44	c.64 others(53): Show c.646_*689delGGGGTGGGGTCAAGAACGAGTTTTTCATTGGTCCTA ATATGGCT	H2AC21	ENSG00000184270.6	transcript	ENST00000331128.6	protein_coding		634		chr1	TogoVar
H2BC21_chr1_149879459_149891682	149886834	AAGCCATA others(37): Show AAGCCATATTAGGACCAATGAAAAACTCGTTCTTGACCCCACCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	364	0.0027	-44	c.-23 others(53): Show c.-238_-195delGGGGTGGGGTCAAGAACGAGTTTTTCATTGGTCCTA ATATGGCT	H2BC21	ENSG00000184678.11	transcript	ENST00000369155.4	protein_coding		153		chr1	TogoVar
HAGH_chr16_1802629_1831825	1823799	AGAACACA others(37): Show AGAACACAGGAACTAACTCATGCTCACATTCATGGAAATCAATTG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	434	0.0023	-44	c.77- others(57): Show c.77-806_77-763delCAATTGATTTCCATGAATGTGAGCATGAGTTA GTTCCTGTGTTC	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	1/8			chr16	TogoVar
HAVCR1_chr5_157024413_157064116	157044444	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19090.hp2 NA19005.hp2 NA19090.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0271 a0004c0005t0001g0272 a0004c0005t0001g0271 a0004c0005t0001g0272	2	342	0.0058	-44	c.782 others(61): Show c.782-1806_782-1763delCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044603	GAAAGAAA others(37): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0034 a0005c0006t0002g0034	1	340	0.0029	-44	c.782 others(61): Show c.782-1965_782-1922delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HBM_chr16_160978_171764	164733	GGCGGGGC others(37): Show GGCGGGGCCGCGGGGCGGGGTCGCGGGGCGGGGCGGGGTGGGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	-44	c.-12 others(55): Show c.-1264_-1221delGCGGGGCCGCGGGGCGGGGTCGCGGGGCGGGGCG GGGTGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1244		chr16	TogoVar
HCN2_chr19_584881_622159	604694	AATGCGGG others(37): Show AATGCGGGTTTTGCTGGGGCAGGGCCAGACATCAGGGGTGGGGAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02647.hp1 HG02818.hp2	a0001 a0001	a0001c0032 a0001c0098 a0001c0032 a0001c0098	a0001c0032t0004 a0001c0098t0006 a0001c0032t0004 a0001c0098t0006	a0001c0032t0004g0381 a0001c0098t0006g0064 a0001c0032t0004g0381 a0001c0098t0006g0064	2	405	0.0049	-44	c.105 others(61): Show c.1057-363_1057-320delCGGGTTTTGCTGGGGCAGGGCCAGACAT CAGGGGTGGGGATATG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HECTD4_chr12_112155195_112387431	112323965	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0195 a0016c0014t0001g0195	1	89	0.0112	-44	c.178 others(61): Show c.178-4267_178-4224delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HENMT1_chr1_108643295_108666093	108658056	CACACATA others(37): Show CACACATATATATGTACACACACACACACACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	434	0.0023	-44	c.22- others(57): Show c.22-521_22-478delATATATGTGTGTGTGTGTGTGTGTGTGTGTAC ATATATATGTGT	HENMT1	ENSG00000162639.16	transcript	ENST00000651461.1	protein_coding	2/7			chr1	TogoVar
HERPUD2_chr7_35627659_35700135	35682288	CGTGTGTG others(37): Show CGTGTGTGTGTGTATATATAGATATATACACATACACACGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	363	0.0028	-44	c.148 others(61): Show c.148-9054_148-9011delACACACGTGTGTATGTGTATATATCTAT ATATACACACACACAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43181116	GGAGAGGG others(37): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	225	0.0044	-44	c.101 others(62): Show c.1013-1025_1013-982delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHIPL1_chr14_99640129_99685569	99656836	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01346.hp1 HG01981.hp2 others(8): Show HG00423.hp1 HG01346.hp1 HG01981.hp2 HG02071.hp2 HG02258.hp2 HG03195.hp1 HG03471.hp2 HG03704.hp2 NA19030.hp1 NA19067.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0006 a0001c0002 a0002c0001 a0002c0006	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0002c0001t0001 a0002c0001t0003 a0002c0006t0002	a0001c0002t0002g0086 a0001c0002t0003g0029 a0001c0002t0007g0212 others(8): Show a0001c0002t0002g0086 a0001c0002t0003g0029 a0001c0002t0007g0212 a0001c0002t0011g0030 a0001c0002t0011g0275 a0001c0002t0014g0079 a0002c0001t0001g0253 a0002c0001t0001g0259 a0002c0001t0003g0243 a0002c0001t0003g0278 a0002c0006t0002g0092	11	283	0.0389	-44	c.903 others(59): Show c.903-147_903-104delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIP1_chr7_75528298_75743941	75663962	ATATATAT others(37): Show ATATATATATACACATATATGTGTATATATATACACATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	125	0.0080	-44	c.121 others(63): Show c.121-64759_121-64716delCACATATATGTGTATATATATACACA TATATGTGTATATATATA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41824762	TATATATA others(37): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01167.hp1 others(3): Show HG00642.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 NA18942.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0033	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0005c0005 a0033c0020	a0001c0001t0068 a0001c0004t0006 a0001c0004t0007 others(3): Show a0001c0001t0068 a0001c0004t0006 a0001c0004t0007 a0002c0002t0045 a0005c0005t0066 a0033c0020t0008	a0001c0001t0068g0124 a0001c0004t0006g0088 a0001c0004t0007g0087 others(3): Show a0001c0001t0068g0124 a0001c0004t0006g0088 a0001c0004t0007g0087 a0002c0002t0045g0015 a0005c0005t0066g0016 a0033c0020t0008g0069	6	128	0.0469	-44	c.-80 others(65): Show c.-801+93607_-801+93650delCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824764	TATATATA others(37): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp2 HG03669.hp1 others(1): Show HG01358.hp1 HG02040.hp2 HG03669.hp1 HG03669.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0017 a0002c0002t0037 a0002c0002t0062 others(1): Show a0001c0001t0017 a0002c0002t0037 a0002c0002t0062 a0005c0005t0070	a0001c0001t0017g0118 a0002c0002t0037g0094 a0002c0002t0062g0014 others(1): Show a0001c0001t0017g0118 a0002c0002t0037g0094 a0002c0002t0062g0014 a0005c0005t0070g0066	4	125	0.0320	-44	c.-80 others(65): Show c.-801+93605_-801+93648delCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824766	TATATATA others(37): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01261.hp2 others(4): Show HG00621.hp1 HG00639.hp2 HG01261.hp2 HG04204.hp2 NA18946.hp2 NA18950.hp2 NA19003.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0072 a0002c0002t0002 a0005c0005t0017	a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0002g0011 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0002g0011 a0001c0001t0012g0010 a0001c0001t0072g0006 a0002c0002t0002g0114 a0005c0005t0017g0012	7	127	0.0551	-44	c.-80 others(65): Show c.-801+93603_-801+93646delCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar

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