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
ACCS_chr11_44061270_44089237	44074775	T T	TCTTTCTT others(35): Show TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0192 a0003c0002t0002g0192	1	434	0.0023	42	c.489 others(55): Show c.489+94_489+95insCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTC	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14			chr11	TogoVar
ACLY_chr17_41861918_41923951	41915799	C C	CACTTCAA others(35): Show CACTTCAAAGAGATTTTGTTGCCATTGGGAGATGCATGGACAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	292	0.0034	42	c.-23 others(59): Show c.-23-1904_-23-1903insCTGTCCATGCATCTCCCAATGGCAACAA AATCTCTTTGAAGT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	1/28			chr17	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(35): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	68	0.0147	42	c.105 others(63): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950834	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0083 a0001c0003t0002g0083	1	148	0.0068	42	c.105 others(63): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGGG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCCTTCCTTCCATCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02683.hp1 HG02486.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	165	0.0121	42	c.122 others(59): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCATCC TTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01074.hp1 others(34): Show HG00280.hp2 HG00544.hp2 HG01074.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG01943.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18998.hp2 NA19009.hp2 NA19074.hp2 NA19081.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0002t0031 a0001c0004t0004 a0001c0005t0001 a0001c0005t0006 a0001c0007t0006	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0040 others(33): Show a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0355 a0001c0001t0001g0377 a0001c0001t0004g0310 a0001c0001t0004g0354 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0204 a0001c0001t0013g0243 a0001c0001t0013g0249 a0001c0001t0015g0149 a0001c0001t0030g0100 a0001c0001t0033g0349 a0001c0002t0031g0312 a0001c0004t0004g0082 a0001c0005t0001g0203 a0001c0005t0001g0212 a0001c0005t0006g0134 a0001c0005t0006g0197 a0001c0007t0006g0114 a0001c0007t0006g0115	37	200	0.1850	42	c.122 others(59): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01071.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0209 a0001c0001t0001g0014 a0001c0001t0001g0209	3	150	0.0200	42	c.159 others(59): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	27	0.0370	42	c.159 others(59): Show c.1593+781_1593+782insAAAAAAAATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	27	0.0370	42	c.159 others(59): Show c.1593+781_1593+782insAAAATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	27	0.0370	42	c.159 others(59): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	27	0.0370	42	c.159 others(59): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95217216	C C	CACGCACC others(35): Show CACGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02486.hp1 others(2): Show HG02109.hp1 HG02145.hp1 HG02486.hp1 HG03195.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0018 a0004c0004t0001g0157 a0004c0004t0001g0158	5	312	0.0160	42	c.111 others(61): Show c.1119+2243_1119+2284dupCGCACCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGA	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS2_chr20_34871612_34932959	34873991	T T	TCTGTAGT others(35): Show TCTGTAGTGTGGTTGGAATTTTGGAGTGAGATGAGAGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	310	0.0032	42	c.-26 others(53): Show c.-2655_-2654insCTGTAGTGTGGTTGGAATTTTGGAGTGAGATGAG AGGATGGA	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding		2620		chr20	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01952.hp2 others(3): Show HG00280.hp2 HG00673.hp1 HG01952.hp2 HG01975.hp1 HG03017.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0264 a0001c0001t0001g0287 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0264 a0001c0001t0001g0287 a0001c0001t0003g0302 a0001c0001t0003g0331 a0001c0001t0006g0134	6	200	0.0300	42	c.876 others(55): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0066 a0001c0004t0002g0066	1	333	0.0030	42	c.876 others(57): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736467	T T	TTTGACCA others(35): Show TTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCCAGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0308 a0001c0001t0020g0308	1	127	0.0079	42	c.70 others(53): Show c.7035_*7036insTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCC AGGGCAGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4879		chr19	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03209.hp2 NA20805.hp2 HG01496.hp1 HG03209.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0001 a0001c0005t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0002	a0001c0001t0003g0276 a0001c0005t0001g0102 a0001c0005t0002g0112 a0001c0001t0003g0276 a0001c0005t0001g0102 a0001c0005t0002g0112	3	203	0.0148	42	c.108 others(61): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58655702	A A	ATATATAC others(35): Show ATATATACTATATATAGTATATATATATACTATATATAGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19068.hp1 NA18951.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0175 a0001c0001t0010g0113 a0001c0001t0001g0175 a0001c0001t0010g0113	2	329	0.0061	42	c.585 others(59): Show c.585+9394_585+9395insCACACTATATATAGTATATATATATACT ATATATAGTATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA20129.hp1 HG01517.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0005 a0001c0001t0001g0029	2	95	0.0211	42	c.957 others(57): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	77	0.0130	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	77	0.0130	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	77	0.0130	42	c.324 others(61): Show c.324-36161_324-36160insAAAAAAAAAATATATATATATATATA TATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM32_chr8_39102734_39289917	39154033	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0254	1	15	0.0667	42	c.525 others(59): Show c.525+2501_525+2502insATATATATATATATATATATATATATAT ATATATATATATAT	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045069	C C	CCTATGTA others(35): Show CCTATGTATGTGTATGTGTGTGTGCACACATACCTATGTATGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03139.hp2 HG02559.hp1 HG02965.hp1 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193	3	296	0.0101	42	c.130 others(61): Show c.1302+2952_1302+2953insCTATGTATGTGTATGTGTGTGTGCAC ACATACCTATGTATGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045262	A A	ACACACAC others(35): Show ACACACACCTATATGTGCGTGTGTACACACACCTATATGTGCG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	315	0.0032	42	c.130 others(61): Show c.1302+3145_1302+3146insCACACACCTATATGTGCGTGTGTACA CACACCTATATGTGCG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849591	C C	CATATGTA others(35): Show CATATGTATTGCATAGCAATATATATGTATTGCATAGCAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03139.hp2 HG02572.hp1 HG02809.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0024 a0003c0005 a0001c0024 a0003c0005	a0001c0024t0001 a0003c0005t0006 a0003c0005t0010 a0001c0024t0001 a0003c0005t0006 a0003c0005t0010	a0001c0024t0001g0050 a0003c0005t0006g0192 a0003c0005t0010g0193 a0001c0024t0001g0050 a0003c0005t0006g0192 a0003c0005t0010g0193	3	141	0.0213	42	c.489 others(61): Show c.489+31486_489+31527dupATATTGCTATGCAATACATATATATT GCTATGCAATACATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470149	T T	TATATATA others(35): Show TATATATATATATACACATGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0020 a0005c0010t0020	a0005c0010t0020g0094 a0005c0010t0020g0094	1	387	0.0026	42	c.172 others(59): Show c.1720+712_1720+713insATATATATATACACATGTATATATATAT ATATATATATACAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470182	G G	GTATATAT others(35): Show GTATATATATATACATATATATATATGTATATATATATACATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0105 a0009c0025t0003g0105	1	295	0.0034	42	c.172 others(59): Show c.1721-737_1721-736insATATATATATACATATATATATATGTAT ATATATATACATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(35): Show ACACACACACATCCCACACCACACATACACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp2 HG00639.hp1 HG02895.hp2	a0003 a0004 a0003 a0004	a0003c0017 a0004c0009 a0003c0017 a0004c0009	a0003c0017t0013 a0004c0009t0040 a0003c0017t0013 a0004c0009t0040	a0003c0017t0013g0238 a0004c0009t0040g0135 a0003c0017t0013g0238 a0004c0009t0040g0135	2	323	0.0062	42	c.318 others(61): Show c.3186+1311_3186+1312insTCCCACACCACACATACACACACATC CCACACCACACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0247 a0003c0002t0007g0247	1	56	0.0179	42	c.253 others(61): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATATATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77334748	G G	GTATACTA others(35): Show GTATACTATAGTATATATACTGTATACTATAGTATACAGTATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show HG02723.hp1 HG02922.hp2 HG03195.hp1 HG03453.hp2	a0004 a0021 a0004 a0021	a0004c0003 a0004c0029 a0021c0030 a0004c0003 a0004c0029 a0021c0030	a0004c0003t0005 a0004c0003t0011 a0004c0029t0022 others(1): Show a0004c0003t0005 a0004c0003t0011 a0004c0029t0022 a0021c0030t0048	a0004c0003t0005g0317 a0004c0003t0011g0155 a0004c0029t0022g0305 others(1): Show a0004c0003t0005g0317 a0004c0003t0011g0155 a0004c0029t0022g0305 a0021c0030t0048g0316	4	323	0.0124	42	c.185 others(61): Show c.1859+1007_1859+1008insTATACTGTATACTATAGTATACAGTA TATATACTATAGTATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129578139	T T	TATATATA others(35): Show TATATATACATATGCATGTATATGTACGTATACGTACATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20300.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0027 a0001c0001t0007g0030 a0001c0001t0002g0027 a0001c0001t0007g0030	2	224	0.0089	42	c.137 others(63): Show c.1373-18416_1373-18415insATACATATGCATGTATATGTACGT ATACGTACATATACATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	44	0.0227	42	c.161 others(61): Show c.1614+1906_1614+1907insAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(35): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp1 NA18950.hp2 others(4): Show HG02027.hp2 NA18942.hp1 NA18950.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0088 a0001c0001t0001g0143 a0001c0001t0001g0144 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0019g0146	7	161	0.0435	42	c.98- others(57): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTTCTCCTTCTCCTCCT TCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(35): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp2 NA18998.hp1 others(1): Show HG00609.hp2 HG01175.hp2 NA18998.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0047 a0001c0001t0001g0151 a0001c0001t0002g0152 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0151 a0001c0001t0002g0152 a0001c0001t0022g0155	4	138	0.0290	42	c.98- others(57): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550114	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	137	0.0073	42	c.98- others(57): Show c.98-1231_98-1230insCTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTSL2_chr9_133529704_133580519	133564314	A A	AAGAGAGA others(35): Show AAGAGAGAGGGAGAGAGAGAAAGAGAGAGAAAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0016 a0002c0009t0001g0016	1	145	0.0069	42	c.174 others(61): Show c.1748-2603_1748-2562dupAAAGAGAGAGAAAGAGAGAGGGAGAG AGAGAGGGAGAGAGAG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(35): Show CATATATACACACATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01099.hp1 others(17): Show HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG02004.hp2 HG02451.hp1 HG03130.hp2 HG03654.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp2 NA18950.hp1 NA18957.hp1 NA19043.hp2 NA19063.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0058 a0002c0002 others(7): Show a0001c0001 a0001c0058 a0002c0002 a0002c0016 a0002c0054 a0003c0003 a0005c0006 a0006c0005 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0006 a0001c0058t0001 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0058t0001 a0002c0002t0001 a0002c0016t0001 a0002c0054t0001 a0003c0003t0001 a0005c0006t0001 a0006c0005t0002 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0053 a0001c0001t0006g0183 a0001c0058t0001g0032 others(17): Show a0001c0001t0001g0053 a0001c0001t0006g0183 a0001c0058t0001g0032 a0002c0002t0001g0012 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0163 a0002c0016t0001g0173 a0002c0016t0001g0174 a0002c0054t0001g0023 a0003c0003t0001g0193 a0005c0006t0001g0154 a0006c0005t0002g0007 a0006c0005t0002g0015 a0006c0005t0002g0017 a0006c0005t0002g0027 a0008c0011t0001g0005 a0008c0011t0001g0009 a0008c0011t0001g0029 a0009c0009t0001g0008	20	126	0.1587	42	c.69+ others(59): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TATATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83801651	A A	AATATAAA others(35): Show AATATAAATATATATATATATATATATATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	133	0.0075	42	c.318 others(59): Show c.318-2994_318-2993insAATATATATATATATATATATATATAAA TATAAATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903920	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 NA18962.hp1 others(5): Show HG00099.hp2 HG00544.hp1 NA18962.hp1 NA18969.hp1 NA18986.hp1 NA19058.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0195 a0001c0001t0001g0264	8	214	0.0374	42	c.170 others(61): Show c.1700+4189_1700+4190insGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(35): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0126 a0001c0002t0126	a0001c0002t0126g0182 a0001c0002t0126g0182	1	264	0.0038	42	c.-39 others(51): Show c.-391_-390insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TCCCTCCC others(35): Show TCCCTCCCGGTGTTCACTCCCCTCTGCATCCCGGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0014 a0005c0010t0006g0014	1	98	0.0102	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACCGGGATGCAGAGGGGA GTGAACACCGGGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TGCATCCC others(35): Show TGCATCCCGGTGTTTACTCCCCTCTCCCTCCCAGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02055.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0043 a0002c0002t0005g0033 a0002c0002t0002g0043 a0002c0002t0005g0033	2	99	0.0202	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACTGGGAGGGAGAGGGGA GTAAACACCGGGATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239212	T T	TGTCTCCC others(35): Show TGTCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0053 a0002c0002t0043g0053	1	98	0.0102	42	c.136 others(61): Show c.1361+2918_1361+2919insGAGTAAACACCGGGAGACAGAGGGGA GTAAACACCGGGAGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239216	T T	TCCCGGTG others(35): Show TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	95	0.0105	42	c.136 others(61): Show c.1361+2914_1361+2915insGGGGGAGTAAACACCGGGAGGGAGAG GGGAGTAAACACCGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1293228	G G	GGGAGGGA others(35): Show GGGAGGGAGAGAGGGACGGGGGGAGAGGGACAGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG00639.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0048 a0002c0002t0027 a0002c0002t0048	a0002c0002t0027g0021 a0002c0002t0048g0068 a0002c0002t0027g0021 a0002c0002t0048g0068	2	106	0.0189	42	c.107 others(63): Show c.1078-22201_1078-22160dupTTCCCTCCCTCTGTCCCTCTCCCC CCGTCCCTCTCTCCCTCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340069	C C	CCCACCAG others(35): Show CCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAGCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	106	0.0094	42	c.107 others(63): Show c.1077+22958_1077+22959insATGCTGGTTATTGCCGCTGTGGGG CGCGTGGTTCTCTGGTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340255	A A	ACCCCACA others(35): Show ACCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	80	0.0125	42	c.107 others(63): Show c.1077+22772_1077+22773insCACGTGGTTCTCTGGTGGATGCCG GTTATTGCCGCTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340255	A A	ACCCCACA others(35): Show ACCCCACAGTGGCAATAACCGGCATCCACCAGAGAACCACGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02055.hp1 others(5): Show HG00639.hp2 HG01081.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 NA18522.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0001c0001t0029 a0002c0002t0002 others(3): Show a0001c0001t0022 a0001c0001t0029 a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 a0002c0002t0048	a0001c0001t0022g0015 a0001c0001t0029g0031 a0002c0002t0002g0043 others(5): Show a0001c0001t0022g0015 a0001c0001t0029g0031 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0005g0022 a0002c0002t0005g0033 a0002c0002t0027g0021 a0002c0002t0048g0068	8	87	0.0920	42	c.107 others(63): Show c.1077+22772_1077+22773insCACGTGGTTCTCTGGTGGATGCCG GTTATTGCCACTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340275	G G	GGCATCCA others(35): Show GGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03139.hp2 others(1): Show HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0019 a0001c0003t0032 others(1): Show a0001c0001t0017 a0001c0001t0019 a0001c0003t0032 a0001c0003t0039	a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0003t0032g0071 others(1): Show a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0003t0032g0071 a0001c0003t0039g0044	4	101	0.0396	42	c.107 others(63): Show c.1077+22752_1077+22753insTGGTTATTGCCGCTGTGGGGCGCG TGGTTCTCTGGTGGATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar

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