Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
ACTG2_chr2_73888008_73924865	73898557	G G	GAAGTGCT others(39): Show GAAGTGCTTTTGGGGAGTCAAAAGGTGTGTACATCTTTAAGGCTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0395 a0001c0003t0007g0395	1	416	0.0024	46	c.-36 others(63): Show c.-36-2717_-36-2716insGTGCTTTTGGGGAGTCAAAAGGTGTGTA CATCTTTAAGGCTTTTAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTN1_chr14_68869128_68984302	68914163	G G	GAATCCAT others(39): Show GAATCCATCCTGGGCAACAAAGCAAGACCCTCTCTAAAAAAACTGCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	284	0.0035	46	c.341 others(63): Show c.341-1922_341-1921insTGCAGTTTTTTTAGAGAGGGTCTTGCTT TGTTGCCCAGGATGGATT	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	3/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(39): Show GTGTGTGTATATATGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	284	0.0035	46	c.106 others(65): Show c.106-24791_106-24790insTATATATATATATATATATATATATA TATACACATATATACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02129.hp2 NA18612.hp2 others(2): Show HG00642.hp1 HG02129.hp2 NA18612.hp2 NA18943.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0333 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0001t0003g0175	5	344	0.0145	46	c.876 others(59): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03710.hp2 HG00140.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0104 a0001c0002t0002g0017 a0001c0001t0003g0104 a0001c0002t0002g0017	2	344	0.0058	46	c.876 others(61): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0061 a0001c0004t0005g0061	1	344	0.0029	46	c.876 others(61): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATATATGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736581	A A	AAGGGGCG others(39): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	314	0.0032	46	c.71 others(57): Show c.7149_*7150insAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4993		chr19	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0251 a0002c0002t0034g0251	1	408	0.0025	46	c.973 others(61): Show c.973-422_973-421insATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	408	0.0025	46	c.973 others(61): Show c.973-422_973-421insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0093	1	230	0.0044	46	c.324 others(65): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATA	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(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 NA18990.hp2 others(1): Show HG00280.hp2 HG00597.hp1 NA18990.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0080 a0002c0002t0001g0197 a0002c0002t0001g0206 others(1): Show a0001c0001t0001g0080 a0002c0002t0001g0197 a0002c0002t0001g0206 a0002c0002t0002g0205	4	230	0.0174	46	c.324 others(65): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATA	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(39): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	230	0.0044	46	c.324 others(65): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATA	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(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0253	1	257	0.0039	46	c.525 others(63): Show c.525+2501_525+2502insATATATATATATATATATATATATATAT ATATATATATATATATAT	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045395	C C	CACACACC others(39): Show CACACACCTATATGTGCGTGTGTACACACACCTATATGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG01257.hp2 others(20): Show HG00735.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0212 a0004c0008t0001g0120	23	332	0.0693	46	c.130 others(65): Show c.1302+3295_1302+3296insTGTGTACACACACCTATATGTGCGTG TGTACACACCTATATGTGCG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849128	T T	TATATATA others(39): Show TATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	224	0.0045	46	c.489 others(65): Show c.489+31990_489+31991insTGCTATGCAATACATATATATATATT GCTATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849199	T T	TATATATA others(39): Show TATATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0025 a0004c0034t0025	a0004c0034t0025g0194 a0004c0034t0025g0194	1	224	0.0045	46	c.489 others(65): Show c.489+31919_489+31920insTGCTATGCAATACATATATATATTGC TATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849199	T T	TATATATA others(39): Show TATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 NA18972.hp1 HG01074.hp2 HG01243.hp1 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0009 a0001c0003 a0002c0002 a0002c0009	a0001c0003t0001 a0002c0002t0003 a0002c0009t0002 a0001c0003t0001 a0002c0002t0003 a0002c0009t0002	a0001c0003t0001g0057 a0002c0002t0003g0049 a0002c0009t0002g0109 a0001c0003t0001g0057 a0002c0002t0003g0049 a0002c0009t0002g0109	3	224	0.0134	46	c.489 others(65): Show c.489+31919_489+31920insTGCTATGCAATACATATATATATATT GCTATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849249	T T	TATATATA others(39): Show TATATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG03516.hp1 HG02717.hp1 HG03139.hp1 HG03516.hp1	a0018 a0019 a0022 a0018 a0019 a0022	a0018c0057 a0019c0056 a0022c0051 a0018c0057 a0019c0056 a0022c0051	a0018c0057t0022 a0019c0056t0001 a0022c0051t0006 a0018c0057t0022 a0019c0056t0001 a0022c0051t0006	a0018c0057t0022g0175 a0019c0056t0001g0173 a0022c0051t0006g0172 a0018c0057t0022g0175 a0019c0056t0001g0173 a0022c0051t0006g0172	3	224	0.0134	46	c.489 others(65): Show c.489+31824_489+31869dupTGCTATGCAATACATATATATATTGC TATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(39): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01981.hp1 HG01993.hp1 others(2): Show HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02148.hp2 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 others(2): Show a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0245 a0002c0006t0001g0114	5	364	0.0137	46	c.12 others(57): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG GGGCGGGGGGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS15_chr11_130443645_130481645	130470146	A A	ATATATAT others(39): Show ATATATATATATATACACATGTATATATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	398	0.0025	46	c.172 others(63): Show c.1720+712_1720+713insATATATATACACATGTATATATATATAT ATATATATACATGTATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0016 a0003c0002t0006g0016	1	326	0.0031	46	c.253 others(65): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATATATATATATATATATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129658347	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0095 a0002c0011t0001g0095	1	226	0.0044	46	c.230 others(63): Show c.2305-247_2305-246insAAGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAAAGAAAGAAAGA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72529971	A A	ATATATAT others(39): Show ATATATATATAATATATTATATTTATATATATATAATATATTATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02965.hp1 others(1): Show HG01243.hp2 HG02451.hp1 HG02965.hp1 HG02970.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0008 a0006c0016 a0001c0001 a0003c0008 a0006c0016	a0001c0001t0002 a0003c0008t0025 a0006c0016t0021 a0001c0001t0002 a0003c0008t0025 a0006c0016t0021	a0001c0001t0002g0027 a0001c0001t0002g0030 a0003c0008t0025g0028 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0030 a0003c0008t0025g0028 a0006c0016t0021g0029	4	182	0.0220	46	c.504 others(65): Show c.504+18506_504+18507insAATATAATATATTATATATATATAAA TATAATATATTATATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATGAAATA others(39): Show ATGAAATATATATAATACATTATATATATGAAATATATATAATACAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04184.hp2 NA18942.hp2 others(3): Show HG03239.hp2 HG04184.hp2 NA18942.hp2 NA18971.hp2 NA19057.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0003g0060	6	204	0.0294	46	c.193 others(65): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78768072	G G	GGGGGTGG others(39): Show GGGGGTGGGGAGTTGGCGGGGGATGGGGTGGGGAGTTGGCGGGGGAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19012.hp2 NA19067.hp2 others(1): Show NA18942.hp2 NA19012.hp2 NA19067.hp2 NA19077.hp1	a0002 a0002	a0002c0001 a0002c0068 a0002c0001 a0002c0068	a0002c0001t0001 a0002c0068t0001 a0002c0001t0001 a0002c0068t0001	a0002c0001t0001g0069 a0002c0001t0001g0086 a0002c0001t0001g0237 others(1): Show a0002c0001t0001g0069 a0002c0001t0001g0086 a0002c0001t0001g0237 a0002c0068t0001g0095	4	380	0.0105	46	c.264 others(61): Show c.2645+15_2645+60dupATCCCCCGCCAACTCCCCACCCCATCCCCC GCCAACTCCCCACCCC	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	17/23			chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78768072	G G	GGGGTGGG others(39): Show GGGGTGGGGAGTTGGCGGGGGATGGGGGTGGGGAGTTGGCGGGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0059 a0059	a0059c0074 a0059c0074	a0059c0074t0012 a0059c0074t0012	a0059c0074t0012g0354 a0059c0074t0012g0354	1	380	0.0026	46	c.264 others(61): Show c.2645+60_2645+61insATCCCCCGCCAACTCCCCACCCCCATCCCC CGCCAACTCCCCACCC	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	17/23			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(39): Show CATATATACACACATATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02074.hp2 NA18994.hp1 others(1): Show HG01175.hp1 HG02074.hp2 NA18994.hp1 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0002 a0002c0002t0001 a0005c0005t0002	a0002c0002t0001g0013 a0002c0002t0001g0022 a0005c0005t0002g0020 others(1): Show a0002c0002t0001g0013 a0002c0002t0001g0022 a0005c0005t0002g0020 a0005c0005t0002g0034	4	274	0.0146	46	c.69+ others(63): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TATATATATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903920	A A	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG00738.hp1 others(5): Show HG00423.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp2 HG03490.hp2 HG03492.hp1 NA19002.hp1 NA19084.hp1	a0001 a0033 a0001 a0033	a0001c0001 a0033c0061 a0001c0001 a0033c0061	a0001c0001t0001 a0033c0061t0001 a0001c0001t0001 a0033c0061t0001	a0001c0001t0001g0145 a0001c0001t0001g0200 a0001c0001t0001g0214 others(5): Show a0001c0001t0001g0145 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0033c0061t0001g0228	8	274	0.0292	46	c.170 others(65): Show c.1700+4189_1700+4190insGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1239574	C C	CCCTCTGC others(39): Show CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGTCTCCCGGTGTTTACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0014 a0009c0010t0006g0014	1	106	0.0094	46	c.136 others(65): Show c.1361+2556_1361+2557insAGTAAACACCGGGAGACAGAGGGGAG TAAACACCGGGAGGCAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1280582	C C	CGCTCCGT others(39): Show CGCTCCGTGAAATTCCTGAGTGATGCTCCGTGAAATTCCTGAGTGAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	106	0.0094	46	c.107 others(65): Show c.1078-9559_1078-9514dupATCACTCAGGAATTTCACGGAGCATC ACTCAGGAATTTCACGGAGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18988.hp1 HG00438.hp2 NA18988.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0006 a0003c0006t0067 a0002c0002t0006 a0003c0006t0067	a0002c0002t0006g0011 a0003c0006t0067g0080 a0002c0002t0006g0011 a0003c0006t0067g0080	2	106	0.0189	46	c.101 others(67): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATATATATATATATATATAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633549	C C	CATCTATC others(39): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18988.hp1 HG02257.hp2 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0005 a0002c0002t0006	a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0005g0033 a0002c0002t0006g0011	2	106	0.0189	46	c.100 others(67): Show c.100+103501_100+103502insAGATATAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633549	C C	CATCTATC others(39): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18983.hp2 NA19011.hp1 HG00438.hp2 NA18983.hp2 NA19011.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0003c0006 a0005c0015 a0002c0004 a0003c0006 a0005c0015	a0002c0004t0028 a0003c0006t0067 a0005c0015t0014 a0002c0004t0028 a0003c0006t0067 a0005c0015t0014	a0002c0004t0028g0020 a0003c0006t0067g0080 a0005c0015t0014g0008 a0002c0004t0028g0020 a0003c0006t0067g0080 a0005c0015t0014g0008	3	106	0.0283	46	c.100 others(67): Show c.100+103456_100+103501dupATAGATAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633552	C C	CTATCTAT others(39): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02602.hp2 HG02615.hp1 others(1): Show HG00639.hp2 HG02602.hp2 HG02615.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0003t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0027	a0001c0003t0001g0052 a0002c0002t0002g0075 a0002c0002t0004g0101 others(1): Show a0001c0003t0001g0052 a0002c0002t0002g0075 a0002c0002t0004g0101 a0002c0002t0027g0021	4	106	0.0377	46	c.100 others(67): Show c.100+103453_100+103498dupTAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1633556	C C	CTATCTAT others(39): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0014 a0009c0010t0006g0014	1	106	0.0094	46	c.100 others(67): Show c.100+103449_100+103494dupTAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624114	C C	CATATATA others(39): Show CATATATATATATGTGTGTGTGTGTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0074 a0003c0004t0074	a0003c0004t0074g0321 a0003c0004t0074g0321	1	348	0.0029	46	c.-17 others(57): Show c.-1734_-1733insATATATATATATATATATATATACACACACACAC ATATATATATAT	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		834		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0300 a0001c0001t0069g0300	1	348	0.0029	46	c.-17 others(57): Show c.-1753_-1752insAAAAAAAAAATATATATATATATATATATATATA TATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143454284	A A	ATTATTAC others(39): Show ATTATTACGAAAACAGTTTTGATTTTATAGACTCCCTGAAATGGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0037 a0001c0001t0101g0037	1	322	0.0031	46	c.-36 others(57): Show c.-3672_-3627dupAGACCATTTCAGGGAGTCTATAAAATCAAAACTG TTTTCGTAATAA	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding		3590		chr6	TogoVar
ADCY2_chr5_7391138_7835081	7557192	G G	GATATATA others(39): Show GATATATAGATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0087 a0004c0027t0001g0087	1	140	0.0071	46	c.570 others(65): Show c.570+36300_570+36301insGATATATATATATATATATATATATA TATATATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7804040	A A	AAGAGAGA others(39): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	1	140	0.0071	46	c.277 others(63): Show c.2776-511_2776-510insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123348036	A A	AGTGTGTG others(39): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02135.hp1 HG01496.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0046 a0001c0001t0001g0128 a0001c0001t0002g0046	2	260	0.0077	46	c.128 others(63): Show c.1285-134_1285-133insACACACACACACACACACACACACACAC ACACACACACACACACAC	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	2/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123396013	A A	AGAGAGGG others(39): Show AGAGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 NA18522.hp2 HG02258.hp1 HG02486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0001 a0001c0008t0005 a0001c0001t0005 a0001c0008t0001 a0001c0008t0005	a0001c0001t0005g0162 a0001c0008t0001g0086 a0001c0008t0005g0087 a0001c0001t0005g0162 a0001c0008t0001g0086 a0001c0008t0005g0087	3	260	0.0115	46	c.113 others(67): Show c.1135-43433_1135-43432insCCTCCCTCCCTCTCTCCCTCCCTC CCTCTCTCCCTCCCTCCCTCTC	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY8_chr8_130775301_131045909	130992382	C C	CACATATA others(39): Show CACATATATATATTGAGCAACTGTGCCTGGCACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0213 a0001c0004t0003g0213	1	246	0.0041	46	c.961 others(63): Show c.961-1841_961-1840insATATATATATATATGTGCCAGGCACAGT TGCTCAATATATATATGT	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/17			chr8	TogoVar
ADD1_chr4_2838844_2935062	2852193	T T	TCCTTTCT others(39): Show TCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0242 a0001c0005t0001g0242	1	320	0.0031	46	c.-21 others(63): Show c.-21+8170_-21+8171insCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTTCC	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGB_chr6_146593972_146820462	146691427	T T	TATATATA others(39): Show TATATATATATATATATATATATATATAAAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0013 a0013	a0013c0039 a0013c0039	a0013c0039t0001 a0013c0039t0001	a0013c0039t0001g0224 a0013c0039t0001g0224	1	276	0.0036	46	c.148 others(63): Show c.1486+152_1486+153insTATATATATATAAAAATATATATATATA TAAATATATATATATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGB_chr6_146593972_146820462	146691429	T T	TTTATATA others(39): Show TTTATATATATATTTATATATATATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0251 a0006c0006t0001g0251	1	276	0.0036	46	c.148 others(63): Show c.1486+139_1486+140insTTATATATATATTTATATATATATATAT ATATAAATATATATATAA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35			chr6	TogoVar
ADGB_chr6_146593972_146820462	146691449	T T	TATATAAA others(39): Show TATATAAATATATATATAAATATATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0074 a0007c0074	a0007c0074t0001 a0007c0074t0001	a0007c0074t0001g0026 a0007c0074t0001g0026	1	276	0.0036	46	c.148 others(63): Show c.1486+164_1486+165insAATATATATATAAATATATATATATATA AATATATATATAAATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB1_chr8_142444649_142550007	142500220	C C	CCGCGCCG others(39): Show CCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 NA19012.hp2 HG02976.hp1 HG03540.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0001g0280 a0001c0001t0002g0081 a0001c0001t0001g0087 a0001c0001t0001g0280 a0001c0001t0002g0081	3	310	0.0097	46	c.267 others(65): Show c.2675+9466_2675+9511dupACCTCCCCACGCGCCGCTCCTCCACC TCCCCACGCGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500306	C C	CGCCCCCC others(39): Show CGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	310	0.0032	46	c.267 others(65): Show c.2675+9491_2675+9492insGCCCCCCGCGCCGCTCCTCCCCCGCC CCCCGCGCCGCTCCTCCCCT	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30			chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500312	A A	ACGCGCCG others(39): Show ACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01358.hp1 others(2): Show HG00733.hp1 HG01243.hp1 HG01358.hp1 HG01516.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 a0001c0001t0001 a0001c0001t0002 a0001c0027t0001	a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0001g0223 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0002g0214 a0001c0027t0001g0213	5	310	0.0161	46	c.267 others(65): Show c.2675+9511_2675+9512insACCTCCCCACGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar

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