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
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	77	0.0130	51	c.324 others(70): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATATA	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(44): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0180	1	77	0.0130	51	c.324 others(70): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM8_chr10_133257423_133281868	133260523	G G	GAGAGTCA others(44): Show GAGAGTCAGGTGTGCGCTGCAGAGCCGGGTGTGCACTGAGAACCAGGTGT GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	51	c.26 others(62): Show c.2632_*2633insGCACACCTGGTTCTCAGTGCACACCCGGCTCTGC AGCGCACACCTGACTCT	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		1899		chr10	TogoVar
ADAM8_chr10_133257423_133281868	133260574	G G	GAGAGAGT others(44): Show GAGAGAGTCAGGTGTGCGCTGCAGAGCCGGGTGTGCACTGAGTCAGGTGT GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	2	384	0.0052	51	c.25 others(62): Show c.2581_*2582insGCACACCTGACTCAGTGCACACCCGGCTCTGCAG CGCACACCTGACTCTCT	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		1848		chr10	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(44): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGC GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG03654.hp2 HG03704.hp1 others(8): Show HG01169.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp2 NA18942.hp2 NA18945.hp1 NA19009.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0044 a0002c0002 a0002c0006 others(1): Show a0001c0044 a0002c0002 a0002c0006 a0002c0051	a0001c0044t0001 a0002c0002t0001 a0002c0006t0001 others(1): Show a0001c0044t0001 a0002c0002t0001 a0002c0006t0001 a0002c0051t0001	a0001c0044t0001g0217 a0002c0002t0001g0038 a0002c0002t0001g0086 others(8): Show a0001c0044t0001g0217 a0002c0002t0001g0038 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0151 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0006t0001g0101 a0002c0051t0001g0158	11	305	0.0361	51	c.12 others(62): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG GGGCGGGGGGGCGGCGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACG others(44): Show TATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCAT AG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 NA19240.hp1 others(1): Show HG02258.hp2 HG02486.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0128	4	36	0.1111	51	c.661 others(70): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530036	A A	AATATATT others(44): Show AATATATTATATTTATATATATGTTATATATTATATTTATATATAATATG TT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	135	0.0074	51	c.504 others(70): Show c.504+18441_504+18442insAACATATTATATATAAATATAATATA TAACATATATATAAATATAATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAP1_chr7_892900_959680	924377	G G	GCTGTAAC others(44): Show GCTGTAACTCCCCCTCTCCAGGTTGCATAGCAGGTTACATAGCAGGTCCA CA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	9	0.1111	51	c.305 others(68): Show c.305+2175_305+2176insTGTGGACCTGCTATGTAACCTGCTATGC AACCTGGAGAGGGGGAGTTACAG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
ADAT1_chr16_75591868_75628281	75627169	A A	ATACTTTT others(44): Show ATACTTTTCCCTCAGAAATACACATACTTTTCTGAGTATTTCCCTCAGAA AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0074 a0003c0004t0074	a0003c0004t0074g0314 a0003c0004t0074g0314	1	346	0.0029	51	c.-47 others(62): Show c.-4789_-4788insATTTCTGAGGGAAATACTCAGAAAAGTATGTGTA TTTCTGAGGGAAAAGTA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		3889		chr16	TogoVar
ADCK5_chr8_144369047_144398242	144381132	G G	GCCCCACT others(44): Show GCCCCACTCAGGATTATGGGCTGGGTGTAGAAGCAGATGTGTGCTCAGGC AC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	344	0.0029	51	c.116 others(68): Show c.116+1643_116+1644insCCCACTCAGGATTATGGGCTGGGTGTAG AAGCAGATGTGTGCTCAGGCACC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCY1_chr7_45569368_45728116	45696155	T T	TTAAGAAA others(44): Show TTAAGAAAAGGGAAAGATAAGTAATAATTTGGGATAAAATGTTTACAAAA CA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0114 a0001c0002t0003g0125 a0001c0002t0003g0093 a0001c0002t0003g0114 a0001c0002t0003g0125	3	276	0.0109	51	c.245 others(70): Show c.2455-7221_2455-7220insTAAGAAAAGGGAAAGATAAGTAATAA TTTGGGATAAAATGTTTACAAAACA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	14/19			chr7	TogoVar
ADCY1_chr7_45569368_45728116	45711880	A A	ATAAATAT others(44): Show ATAAATATATTTATATATTATATTAAATATATAAATATATTATATATTAT AT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG03688.hp2 others(4): Show HG00140.hp2 HG00673.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0063 a0001c0001t0071 a0001c0001t0008 a0001c0001t0063 a0001c0001t0071	a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0012 others(4): Show a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0257 a0001c0001t0063g0238 a0001c0001t0071g0014	7	276	0.0254	51	c.305 others(70): Show c.3057+1238_3057+1288dupTTATATATTATATTAAATATATAAAT ATATTATATATTATATTAAATATAT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADGRA1_chr10_133082924_133136675	133135902	G G	GGTTCTGG others(44): Show GGTTCTGGTCTCTGGGTCCCTGTGGGGGCAACTGGTCTCTGGGTCCCTGT GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0012 a0003c0027t0012	a0003c0027t0012g0046 a0003c0027t0012g0046	1	365	0.0027	51	c.63 others(62): Show c.6391_*6392insGTTCTGGTCTCTGGGTCCCTGTGGGGGCAACTGG TCTCTGGGTCCCTGTGA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4228		chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG04228.hp2 NA18957.hp2 HG01981.hp2 HG04228.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001	a0001c0001t0002g0070 a0001c0002t0002g0113 a0001c0003t0001g0079 a0001c0001t0002g0070 a0001c0002t0002g0113 a0001c0003t0001g0079	3	60	0.0500	51	c.210 others(72): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE1_chr19_6882579_6945450	6882905	C C	CTTTTTTT others(44): Show CTTTTTTTTTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTTTGTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0298 a0006c0006t0004g0298	1	319	0.0031	51	c.-47 others(62): Show c.-4704_-4703insTTTTTTTTTTGTTTTTTTGTTTTTTGTTTTTTGT TTTTTTGTTTTTTTTTT	ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding		4673		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617340	C C	CTCTCTCT others(44): Show CTCTCTCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	263	0.0038	51	c.20 others(62): Show c.2092_*2093insAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AGAGAAAGAAAGAGAGA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1776		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTTCTT others(44): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0214 a0004c0004t0001g0214	1	90	0.0111	51	c.20 others(62): Show c.2091_*2092insAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1775		chr19	TogoVar
ADGRF5_chr6_46847522_46926938	46852675	A A	AATCCTTG others(44): Show AATCCTTGGGAAAGGCTCTGCCATTTGTTCAACAACGTCAAGTGTCATTG GG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG02809.hp1 HG02965.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0033 a0003c0003 a0013c0033	a0003c0003t0011 a0013c0033t0011 a0003c0003t0011 a0013c0033t0011	a0003c0003t0011g0330 a0013c0033t0011g0335 a0003c0003t0011g0330 a0013c0033t0011g0335	2	380	0.0053	51	c.13 others(62): Show c.1316_*1317insCCCAATGACACTTGACGTTGTTGAACAAATGGCA GAGCCTTTCCCAAGGAT	ADGRF5	ENSG00000069122.19	transcript	ENST00000283296.12	protein_coding	21/21	1316		chr6	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(44): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAATAAAATATA AA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03098.hp2 NA18906.hp2 HG02080.hp1 HG03098.hp2 NA18906.hp2	a0037 a0057 a0068 a0037 a0057 a0068	a0037c0092 a0057c0093 a0068c0075 a0037c0092 a0057c0093 a0068c0075	a0037c0092t0001 a0057c0093t0001 a0068c0075t0001 a0037c0092t0001 a0057c0093t0001 a0068c0075t0001	a0037c0092t0001g0078 a0057c0093t0001g0139 a0068c0075t0001g0056 a0037c0092t0001g0078 a0057c0093t0001g0139 a0068c0075t0001g0056	3	10	0.3000	51	c.974 others(68): Show c.9748+533_9748+534insAAATAAAATAAAATAAAATAAAAATAAA ATATAAAAAAATAAAATAAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADIPOQ_chr3_186837710_186863463	186863244	G G	GTCCTCCC others(44): Show GTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	474	0.0021	51	c.85 others(62): Show c.8540_*8541insTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTC	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding		4782		chr3	TogoVar
ADSS1_chr14_104719229_104752310	104729510	G G	GGGGGAGG others(44): Show GGGGGAGGAGCGTGGCGTCGGCGTTGGGGGAGGAGCGTGGCGTCGGCGTC GT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	400	0.0025	51	c.192 others(68): Show c.192+5071_192+5072insTGGGGGAGGAGCGTGGCGTCGGCGTCGT GGGGAGGAGCGTGGCGTCGGCGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104729528	C C	CGGCGTTG others(44): Show CGGCGTTGGGGGAGGAGCGTGGCGTCGGCGTCGTGGGGAGGAGCGTGGCG TT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	390	0.0051	51	c.192 others(68): Show c.192+5071_192+5072insTGGGGGAGGAGCGTGGCGTCGGCGTCGT GGGGAGGAGCGTGGCGTTGGCGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104729565	G G	GAGGAGCG others(44): Show GAGGAGCGTGGCGTCGGCGTCGGGGGGAGGAGCGTGGCGTCGGCGTCGGG GT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19007.hp1 HG02523.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0234 a0001c0002t0001g0235	2	400	0.0050	51	c.192 others(68): Show c.192+5103_192+5104insAGGAGCGTGGCGTCGGCGTCGGGGGGAG GAGCGTGGCGTCGGCGTCGGGGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12			chr14	TogoVar
AFF3_chr2_99540419_100147590	100104798	A A	AGCCGCCG others(44): Show AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0089 a0001c0003t0006g0089	1	62	0.0161	51	c.-64 others(66): Show c.-64-281_-64-280insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGC	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	3/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235906727	C C	CCCTGAGG others(44): Show CCCTGAGGACCCACAGTTTCATTCCTTTCCCCTGAACTGGAATTGTGTAC TT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0071 a0001c0001t0012g0071	1	98	0.0102	51	c.115 others(70): Show c.1156-2010_1156-1960dupCCTGAGGACCCACAGTTTCATTCCTT TCCCCTGAACTGGAATTGTGTACTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGGF1_chr5_77025404_77070234	77043482	A A	AGGGCTGA others(44): Show AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	371	0.0027	51	c.871 others(68): Show c.871-2851_871-2850insCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGGCTGACCCCCCC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77043538	A A	ACCCCCCC others(44): Show ACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0288	1	427	0.0023	51	c.871 others(68): Show c.871-2802_871-2801insCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AICDA_chr12_8597170_8617859	8608228	A A	ATTTTTTA others(44): Show ATTTTTTAATGTATAAGAGCAATACCTGGCTGGGCGCAGTGGCTCACACC TG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(35): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG01346.hp1 HG01891.hp1 HG02109.hp1 HG02523.hp1 HG02615.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03654.hp1 HG03834.hp2 HG04228.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19005.hp2 NA19010.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0002c0003t0001 a0002c0003t0010 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0079 others(23): Show a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0003g0096 a0001c0001t0003g0123 a0001c0001t0003g0241 a0001c0001t0008g0102 a0001c0001t0009g0033 a0001c0001t0009g0076 a0001c0001t0012g0242 a0001c0001t0025g0085 a0001c0001t0027g0243 a0001c0002t0001g0013 a0001c0002t0001g0032 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0002g0098 a0001c0002t0005g0103 a0001c0002t0007g0031 a0002c0003t0001g0082 a0002c0003t0010g0081 a0002c0004t0001g0095	38	455	0.0835	51	c.9-1 others(64): Show c.9-1267_9-1217dupCAGGTGTGAGCCACTGCGCCCAGCCAGGTATT GCTCTTATACATTAAAAAA	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	1/4			chr12	TogoVar
AICDA_chr12_8597170_8617859	8608228	A A	ATTTTTTA others(44): Show ATTTTTTAATGTATAAGAGCACTACCTGGCTGGGCGCAGTGGCTCACACC TG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	418	0.0024	51	c.9-1 others(64): Show c.9-1217_9-1216insCAGGTGTGAGCCACTGCGCCCAGCCAGGTAGT GCTCTTATACATTAAAAAA	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	1/4			chr12	TogoVar
AK8_chr9_132720578_132883284	132865856	G G	GGGTTCCA others(44): Show GGGTTCCATCTCAGATGAATGAAATTTTAACACATTTTTGGTACTTAAAA AT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	264	0.0038	51	c.219 others(67): Show c.219+997_219+1047dupATTTTTAAGTACCAAAAATGTGTTAAAAT TTCATTCATCTGAGATGGAACC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	3/12			chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	347	0.0029	51	c.73+ others(64): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALLC_chr2_3653200_3707671	3690319	C C	CCCTCCCC others(44): Show CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0045 a0004c0004t0001g0045	1	225	0.0044	51	c.512 others(68): Show c.512-5396_512-5395insTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690348	T T	TCCCCTCC others(44): Show TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0152	1	221	0.0045	51	c.512 others(68): Show c.512-5360_512-5359insCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8037067	T T	TCAAGTGA others(44): Show TCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTGCAACCTC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0040 a0004c0006t0003g0040	1	468	0.0021	51	c.-20 others(62): Show c.-2089_-2088insCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGAATTGCAACCTCTG	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1991		chr17	TogoVar
ALPL_chr1_21504423_21583410	21576224	A A	ATGGATGG others(44): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGATG GG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01515.hp2 others(6): Show HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0099 a0003c0004t0005g0100 a0003c0004t0005g0180 others(6): Show a0003c0004t0005g0099 a0003c0004t0005g0100 a0003c0004t0005g0180 a0003c0004t0005g0182 a0003c0004t0005g0195 a0003c0004t0005g0196 a0003c0004t0005g0239 a0003c0004t0005g0241 a0003c0004t0005g0273	9	368	0.0245	51	c.119 others(68): Show c.1190-268_1190-267insGATGATGGATGGATGGATGGGTGGATGG ATGGATGGATGGATGGATGGATG	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA19083.hp1 HG02523.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	261	0.0077	51	c.32 others(62): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19063.hp2 NA18942.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	221	0.0090	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	220	0.0045	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	220	0.0045	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	220	0.0045	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19088.hp1 NA18975.hp1 NA19088.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0007 a0004c0004t0001g0002 a0002c0002t0001g0007 a0004c0004t0001g0002	2	221	0.0090	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGA GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03516.hp1 NA20805.hp1 HG01081.hp2 HG03516.hp1 NA20805.hp1	a0004 a0017 a0004 a0017	a0004c0004 a0017c0027 a0004c0004 a0017c0027	a0004c0004t0001 a0017c0027t0001 a0004c0004t0001 a0017c0027t0001	a0004c0004t0001g0002 a0017c0027t0001g0001 a0004c0004t0001g0002 a0017c0027t0001g0001	3	222	0.0135	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GGAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMPH_chr7_38378704_38636373	38451319	A A	ATATATAC others(44): Show ATATATACACGTATATATACATATATACGTTATATACACGTATATATATG TG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG02080.hp2 others(27): Show HG00621.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18945.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19084.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0004c0011 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0007t0001 a0001c0007t0005 a0001c0009t0006 a0004c0011t0001 a0005c0015t0001	a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0071 others(27): Show a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0003g0202 a0001c0001t0003g0232 a0001c0001t0003g0278 a0001c0001t0003g0285 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0007t0001g0090 a0001c0007t0005g0261 a0001c0009t0006g0077 a0004c0011t0001g0066 a0005c0015t0001g0223	30	284	0.1056	51	c.101 others(70): Show c.1017+9963_1017+9964insCACATATATATACGTGTATATAACGT ATATATGTATATATACGTGTATATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38610332	A A	AGAGAGAG others(44): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	279	0.0036	51	c.69+ others(68): Show c.69+20950_69+20951insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(44): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	270	0.0037	51	c.-37 others(60): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(44): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	125	0.0080	51	c.-37 others(60): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(44): Show GAAAGAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	398	0.0025	51	c.18 others(62): Show c.1859_*1860insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTC TTTCTTTCTTTCTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANKRD11_chr16_89262630_89495561	89328861	T T	TGGAGGCC others(44): Show TGGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGCACGGGCGAATCA GC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0019 a0019	a0019c0053 a0019c0053	a0019c0053t0001 a0019c0053t0001	a0019c0053t0001g0136 a0019c0053t0001g0136	1	305	0.0033	51	c.-59 others(70): Show c.-59-11784_-59-11783insGCTGATTCGCCCGTGCGCCTGGGTGT GTCCACTCACTCAGCAGGGGCCTCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9196122	C C	CACACACA others(44): Show CACACACACACACATTGAGGCTAACTGCCTCAGTGCTTTTCATAGAATTT TT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0160 a0002c0002t0031g0161 a0002c0002t0031g0160 a0002c0002t0031g0161	2	286	0.0070	51	c.235 others(66): Show c.235+437_235+438insTTGAGGCTAACTGCCTCAGTGCTTTTCATA GAATTTTTACACACACACACA	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14846948	T T	TCCACCCC others(44): Show TCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	314	0.0032	51	c.318 others(70): Show c.3182-1767_3182-1766insCACCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCC	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr18	TogoVar

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