Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCA7_chr19_1035107_1070572	1049617	A A	ACCCCCCA others(44): Show ACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGA GC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	30	0.0333	51	c.255 others(68): Show c.2552+204_2552+205insACCCCCCACCACTCCCTCCCCGTGAGCC CCCCCACCACTCCCTCCCCGTGA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCCTCTC others(44): Show CTCCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0097	1	249	0.0040	51	c.49- others(66): Show c.49-7978_49-7977insCTCTCTCTCTCTCTGTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC4_chr13_95014835_95306451	95244661	G G	GGAAGGAA others(44): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	248	0.0040	51	c.306 others(68): Show c.306+2313_306+2314insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(44): Show GAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	376	0.0027	51	c.-11 others(62): Show c.-1192_-1191insAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870986	A A	AGAGAAAG others(44): Show AGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0017 a0001c0005t0004g0017	1	376	0.0027	51	c.-11 others(62): Show c.-1189_-1188insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1066		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870987	A A	AAGAAAGA others(44): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	376	0.0027	51	c.-11 others(62): Show c.-1188_-1187insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1065		chr14	TogoVar
ACR_chr22_50733204_50750339	50748642	A A	AGTGTGCC others(44): Show AGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAATCTGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	464	0.0022	51	c.34 others(62): Show c.3435_*3436insGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCA CCTAGACAATCTGAGGG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3304		chr22	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(44): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	338	0.0030	51	c.-75 others(60): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	230	0.0044	51	c.324 others(70): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAAAATATAT 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 AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	230	0.0044	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	230	0.0044	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	386	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	a0001c0002t0002g0016 a0001c0002t0002g0016	2	386	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	a0001c0044t0001g0153 a0002c0002t0001g0037 a0002c0002t0001g0085 others(8): Show a0001c0044t0001g0153 a0002c0002t0001g0037 a0002c0002t0001g0085 a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0151 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0006t0001g0100 a0002c0051t0001g0164	11	364	0.0302	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	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0005g0010 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0005g0010 a0001c0001t0005g0011	4	182	0.0220	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	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0102 a0002c0002t0004g0102	1	182	0.0055	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	14	0.0714	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	a0003c0004t0074g0321 a0003c0004t0074g0321	1	348	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	a0001c0001t0001g0125 a0001c0001t0001g0125	1	346	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 a0001c0002t0064 a0001c0002t0003 a0001c0002t0064	a0001c0002t0003g0115 a0001c0002t0003g0126 a0001c0002t0064g0094 a0001c0002t0003g0115 a0001c0002t0003g0126 a0001c0002t0064g0094	3	278	0.0108	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 a0001c0001t0069 a0001c0001t0077 a0001c0001t0008 a0001c0001t0069 a0001c0001t0077	a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0011 others(4): Show a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0011 a0001c0001t0008g0013 a0001c0001t0008g0258 a0001c0001t0069g0239 a0001c0001t0077g0012	7	278	0.0252	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	a0003c0028 a0003c0028	a0003c0028t0012 a0003c0028t0012	a0003c0028t0012g0046 a0003c0028t0012g0046	1	368	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	120	0.0250	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	a0006c0006t0004g0299 a0006c0006t0004g0299	1	338	0.0030	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	372	0.0027	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	a0004c0004t0001g0220 a0004c0004t0001g0220	1	372	0.0027	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 a0019 a0003 a0019	a0003c0003 a0019c0033 a0003c0003 a0019c0033	a0003c0003t0014 a0019c0033t0014 a0003c0003t0014 a0019c0033t0014	a0003c0003t0014g0337 a0019c0033t0014g0342 a0003c0003t0014g0337 a0019c0033t0014g0342	2	382	0.0052	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	a0032 a0058 a0070 a0032 a0058 a0070	a0032c0092 a0058c0075 a0070c0093 a0032c0092 a0058c0075 a0070c0093	a0032c0092t0001 a0058c0075t0001 a0070c0093t0001 a0032c0092t0001 a0058c0075t0001 a0070c0093t0001	a0032c0092t0001g0092 a0058c0075t0001g0056 a0070c0093t0001g0139 a0032c0092t0001g0092 a0058c0075t0001g0056 a0070c0093t0001g0139	3	158	0.0190	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	a0001c0001t0008g0015 a0001c0001t0008g0015	1	484	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	a0001c0001t0001g0266 a0001c0001t0001g0266	1	402	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	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	402	0.0050	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	a0001c0002t0001g0210 a0001c0002t0001g0244 a0001c0002t0001g0210 a0001c0002t0001g0244	2	402	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	100	0.0100	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	a0001c0001t0001g0284 a0001c0001t0001g0284	1	438	0.0023	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	a0001c0002t0003g0312 a0001c0002t0003g0312	1	438	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	a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0086 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0003g0103 a0001c0001t0003g0137 a0001c0001t0003g0290 a0001c0001t0008g0108 a0001c0001t0009g0031 a0001c0001t0009g0083 a0001c0001t0012g0291 a0001c0001t0025g0092 a0001c0001t0027g0292 a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0002g0106 a0001c0002t0005g0281 a0001c0002t0007g0029 a0002c0003t0001g0089 a0002c0003t0010g0088 a0002c0004t0001g0102	38	458	0.0830	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	a0001c0001t0009g0070 a0001c0001t0009g0070	1	458	0.0022	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	266	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	a0001c0001t0001g0365 a0001c0001t0001g0365	1	378	0.0027	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	a0004c0004t0001g0037 a0004c0004t0001g0037	1	274	0.0037	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	a0002c0002t0002g0170 a0002c0002t0002g0170	1	274	0.0037	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	a0004c0006t0003g0144 a0004c0006t0003g0144	1	470	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	370	0.0243	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	410	0.0049	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	410	0.0049	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	410	0.0024	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	410	0.0024	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	410	0.0024	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	410	0.0049	51	c.33 others(62): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar

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