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
ADPRHL1_chr13_113394611_113458488	113436117	C C	CAGAGTGA others(33): Show CAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01256.hp1 others(7): Show HG00639.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01993.hp1 HG02809.hp1 HG03139.hp1 HG03710.hp2 HG04184.hp2 NA18999.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0010 a0014 a0027 a0032 a0036	a0001c0001 a0002c0002 a0004c0005 others(5): Show a0001c0001 a0002c0002 a0004c0005 a0010c0010 a0014c0048 a0027c0032 a0032c0043 a0036c0047	a0001c0001t0007 a0001c0001t0044 a0002c0002t0002 others(7): Show a0001c0001t0007 a0001c0001t0044 a0002c0002t0002 a0002c0002t0075 a0004c0005t0104 a0010c0010t0010 a0014c0048t0037 a0027c0032t0027 a0032c0043t0002 a0036c0047t0015	a0001c0001t0007g0256 a0001c0001t0044g0233 a0002c0002t0002g0198 others(7): Show a0001c0001t0007g0256 a0001c0001t0044g0233 a0002c0002t0002g0198 a0002c0002t0075g0154 a0004c0005t0104g0255 a0010c0010t0010g0146 a0014c0048t0037g0127 a0027c0032t0027g0122 a0032c0043t0002g0142 a0036c0047t0015g0151	10	262	0.0382	40	c.380 others(57): Show c.380-2251_380-2250insACCTGGGTGCTGGGTCCCAGGGTACACC TATGTTCACTCT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp2 NA18954.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0090 a0001c0003t0002g0043 a0001c0001t0001g0090 a0001c0003t0002g0043	2	262	0.0076	40	c.316 others(57): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360497	A A	ATAGATAG others(33): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	262	0.0038	40	c.17- others(57): Show c.17-19767_17-19766insACTATCTATCTATCTATCTATCTATCTA TCTATCTATCTA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7756458	A A	ATTGGCTT others(33): Show ATTGGCTTGGTCTGTGCACCATCGACCCGAGGGCCAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02922.hp1 HG01261.hp2 HG02257.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0069 a0001c0004t0065 a0002c0005t0004 a0001c0002t0069 a0001c0004t0065 a0002c0005t0004	a0001c0002t0069g0265 a0001c0004t0065g0200 a0002c0005t0004g0012 a0001c0002t0069g0265 a0001c0004t0065g0200 a0002c0005t0004g0012	3	318	0.0094	40	c.73 others(51): Show c.7306_*7307insCCTTCTGGCCCTCGGGTCGATGGTGCACAGACCA AGCCAA	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding		2255		chr4	TogoVar
AFF2_chrX_148495617_149005663	148581388	G G	GTATACGT others(33): Show GTATACGTGTACACACATATACACGTATACGTGTACACACA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0060 a0001c0001t0015g0060	1	169	0.0059	40	c.48- others(57): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148983953	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0129 a0001c0005t0023g0129	1	169	0.0059	40	c.362 others(59): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99626427	T T	TCCTCCCT others(33): Show TCCTCCCTCCCTCTCCTTCCCTTCCCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG02970.hp2 others(4): Show HG01071.hp1 HG01081.hp2 HG02970.hp2 HG03130.hp1 HG06807.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0004t0007	a0001c0001t0001g0080 a0001c0001t0002g0032 a0001c0001t0002g0033 others(4): Show a0001c0001t0001g0080 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0016g0003 a0001c0004t0007g0093 a0001c0004t0007g0095 a0001c0004t0007g0096	7	100	0.0700	40	c.118 others(61): Show c.1184+23159_1184+23198dupGAGGAAGGAAGGAAGGGGAAGGGA AGGAGAGGGAGGGAGG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573017	T T	TTCTTCTT others(33): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0020 a0001c0001t0010 a0001c0003t0020	a0001c0001t0010g0003 a0001c0003t0020g0053 a0001c0001t0010g0003 a0001c0003t0020g0053	2	98	0.0204	40	c.163 others(59): Show c.163+78168_163+78169insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTCCTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573026	T T	TTCTTCTT others(33): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0088 a0001c0005t0004g0088	1	98	0.0102	40	c.163 others(59): Show c.163+78177_163+78178insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTCCTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573029	T T	TTCTTCTT others(33): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 NA18906.hp1 HG02896.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0002g0049 a0001c0001t0010g0014 a0001c0002t0001g0073 a0001c0001t0002g0049 a0001c0001t0010g0014 a0001c0002t0001g0073	3	98	0.0306	40	c.163 others(59): Show c.163+78180_163+78181insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTCCTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573032	T T	TTCTTCTT others(33): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0015 a0001c0003t0025g0015	1	98	0.0102	40	c.163 others(59): Show c.163+78183_163+78184insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTCCTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGA_chr4_177425774_177447437	177445154	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	442	0.0023	40	c.-27 others(51): Show c.-2780_-2779insCTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding		2718		chr4	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19012.hp2 HG00323.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0062 a0001c0002t0027 a0001c0002t0062	a0001c0002t0027g0082 a0001c0002t0062g0031 a0001c0002t0027g0082 a0001c0002t0062g0031	2	132	0.0152	40	c.222 others(59): Show c.2220+6966_2220+6967insTATATATATATATATATATATATATA TATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG01099.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0004t0034 a0001c0002t0006 a0001c0004t0034	a0001c0002t0006g0003 a0001c0004t0034g0124 a0001c0002t0006g0003 a0001c0004t0034g0124	2	132	0.0152	40	c.222 others(59): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT ATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0014 a0001c0001t0047g0014	1	132	0.0076	40	c.222 others(59): Show c.2220+6953_2220+6954insGTGTGTATATATATATATATATATAT ATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0011 a0001c0059t0001g0011	1	132	0.0076	40	c.315 others(61): Show c.3158+61218_3158+61219insTATATATATATATATATATATATA TATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 NA18964.hp1 others(1): Show HG00099.hp2 HG00735.hp1 NA18964.hp1 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0087 a0002c0002t0002g0102 a0003c0003t0002g0096 others(1): Show a0002c0002t0002g0087 a0002c0002t0002g0102 a0003c0003t0002g0096 a0003c0003t0002g0121	4	356	0.0112	40	c.848 others(55): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	356	0.0028	40	c.848 others(55): Show c.848+373_848+374insATATATATATATATATATATATTTTTTTTT TTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19009.hp2 NA19074.hp2 HG02523.hp2 NA19009.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0115 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0115	3	356	0.0084	40	c.848 others(55): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18942.hp2 NA19065.hp1 HG03017.hp2 NA18942.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0066 a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0066	3	356	0.0084	40	c.848 others(55): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19062.hp2 HG01071.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0091 a0002c0002t0002g0021 a0002c0002t0002g0091	2	356	0.0056	40	c.848 others(55): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135096564	G G	GATAGATA others(33): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	320	0.0031	40	c.211 others(61): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATACATA GATAGATAGATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15198196	C C	CGAGAGAG others(33): Show CGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	236	0.0042	40	c.30 others(51): Show c.3088_*3089insTGTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTC TCTCTC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2120		chr7	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACACATA others(33): Show CACACATATATATATATATATATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	236	0.0042	40	c.410 others(57): Show c.410-1262_410-1261insATATATATATATATATCTATATATATAT ATATATATGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACATATA others(33): Show CACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	236	0.0042	40	c.410 others(57): Show c.410-1262_410-1261insATATATATATATATATATATATATATAT ATATATATATGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT4_chr6_161124967_161279061	161219872	T T	TAGATAGA others(33): Show TAGATAGATAGATAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0151 a0001c0002t0004g0151	1	264	0.0038	40	c.178 others(59): Show c.178+12163_178+12164insGCCTGCCTGCCTGCCTGCCTGCCTGC CTATCTATCTATCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0256 a0001c0003t0005g0256	1	258	0.0039	40	c.870 others(57): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT ATATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR2_chr7_16786811_16809999	16790257	G G	GGGCGGAG others(33): Show GGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGTTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(125): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0056 others(70): Show a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0004g0027 a0001c0001t0004g0042 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0004g0084 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0150 a0001c0001t0004g0191 a0001c0001t0004g0210 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0232 a0001c0001t0004g0240 a0001c0001t0006g0009 a0001c0001t0006g0087 a0001c0001t0006g0158 a0001c0001t0008g0023 a0001c0001t0008g0086 a0001c0001t0008g0091 a0001c0001t0008g0202 a0001c0001t0010g0064 a0001c0001t0012g0067 a0001c0001t0013g0167 a0001c0001t0016g0094 a0001c0001t0019g0243 a0001c0001t0020g0250 a0001c0002t0001g0085 a0001c0002t0002g0164	128	460	0.2783	40	c.26 others(51): Show c.2650_*2651insTGGCAACCGCCCCATCTGAGAAGTGAGGAGCCCC TCCGCC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1553		chr7	TogoVar
AGR2_chr7_16786811_16809999	16790266	G G	GGCTCCTC others(33): Show GGCTCCTCACTTCTCAGATGGGGCGGTTGCCAGGCGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 others(84): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0015g0142 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0214 a0001c0002t0001g0219 a0001c0002t0001g0227 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0242 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0007g0038 a0001c0002t0007g0071 a0001c0002t0007g0095 a0001c0002t0007g0103 a0001c0002t0007g0186 a0001c0002t0007g0231 a0001c0002t0011g0059	188	460	0.4087	40	c.26 others(51): Show c.2641_*2642insTCCTCCGCCTGGCAACCGCCCCATCTGAGAAGTG AGGAGC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1544		chr7	TogoVar
AGR2_chr7_16786811_16809999	16790498	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCAGGAAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(106): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0127 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0169 a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0225 a0001c0001t0003g0235 a0001c0001t0005g0046 a0001c0001t0005g0062 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0154 a0001c0001t0005g0208 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0009g0029 a0001c0001t0014g0140 a0001c0001t0017g0229 a0001c0001t0018g0089	109	460	0.2370	40	c.24 others(51): Show c.2409_*2410insCCTCTTCCTGGCCGCCATCCCATCTAGGAAGTGA GGAGCG	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1312		chr7	TogoVar
AGR2_chr7_16786811_16809999	16790498	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02300.hp2 HG01496.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	2	460	0.0044	40	c.24 others(51): Show c.2409_*2410insCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCG	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1312		chr7	TogoVar
AGR3_chr7_16854412_16886983	16880470	C C	CTCCCCTC others(33): Show CTCCCCTCCTTTCCCCTCCTTTCCCCTCCTTTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02055.hp1 HG02004.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0315 a0001c0001t0002g0178 a0001c0001t0001g0315 a0001c0001t0002g0178	2	458	0.0044	40	c.-28 others(57): Show c.-28+1473_-28+1474insAAGGAGGGGAAAGGAGGGGAAAGGAGGG GAAAGGAGGGGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGTR1_chr3_148692903_148748003	148745773	A A	ATATTTTA others(33): Show ATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02818.hp2 others(2): Show HG01261.hp1 HG02055.hp2 HG02818.hp2 HG02886.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0008 a0001c0001t0016 a0001c0003t0004 others(1): Show a0001c0001t0008 a0001c0001t0016 a0001c0003t0004 a0002c0004t0001	a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0001t0016g0084 others(2): Show a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0001t0016g0084 a0001c0003t0004g0225 a0002c0004t0001g0182	5	350	0.0143	40	c.36 others(51): Show c.3658_*3659insTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTT	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding		2771		chr3	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01346.hp2 HG01993.hp1 others(3): Show HG00597.hp2 HG01346.hp2 HG01993.hp1 HG02723.hp1 HG04115.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 others(3): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0011g0290 a0001c0001t0023g0095 a0001c0002t0001g0265	6	292	0.0206	40	c.364 others(59): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	318511	A A	AGGAGAAA others(33): Show AGGAGAAACTGGTGTGGGAGAGGGAACCCAGGCGTGACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG00741.hp2 others(15): Show HG00280.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02004.hp2 HG02683.hp2 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0029 a0002c0002t0001 a0002c0002t0006 others(5): Show a0001c0001t0029 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0001c0001t0029g0012 a0001c0001t0029g0013 a0002c0002t0001g0010 others(13): Show a0001c0001t0029g0012 a0001c0001t0029g0013 a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0010g0015 a0002c0002t0019g0007 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0012g0001 a0003c0004t0028g0006 a0003c0004t0028g0217	18	268	0.0672	40	c.-33 others(51): Show c.-3319_-3318insGGAGAAACTGGTGTGGGAGAGGGAACCCAGGCGT GACCAG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3202		chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATAATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0145 a0002c0002t0010g0145	1	268	0.0037	40	c.-10 others(57): Show c.-10-3204_-10-3203insATATATATATATATATATATATATAATA TATTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03927.hp2 NA19043.hp1 others(1): Show HG01069.hp1 HG03927.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0004 a0001c0001 a0001c0017 a0003c0004	a0001c0001t0009 a0001c0017t0016 a0003c0004t0012 others(1): Show a0001c0001t0009 a0001c0017t0016 a0003c0004t0012 a0003c0004t0054	a0001c0001t0009g0030 a0001c0017t0016g0176 a0003c0004t0012g0168 others(1): Show a0001c0001t0009g0030 a0001c0017t0016g0176 a0003c0004t0012g0168 a0003c0004t0054g0165	4	268	0.0149	40	c.-10 others(57): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18950.hp2 NA18945.hp1 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0011 a0002c0002t0001 a0002c0002t0011	a0002c0002t0001g0062 a0002c0002t0011g0213 a0002c0002t0001g0062 a0002c0002t0011g0213	2	268	0.0075	40	c.-10 others(57): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19083.hp1 HG00099.hp2 NA19083.hp1	a0009 a0015 a0009 a0015	a0009c0022 a0015c0016 a0009c0022 a0015c0016	a0009c0022t0001 a0015c0016t0015 a0009c0022t0001 a0015c0016t0015	a0009c0022t0001g0023 a0015c0016t0015g0189 a0009c0022t0001g0023 a0015c0016t0015g0189	2	268	0.0075	40	c.-10 others(57): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT TTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	435190	A A	AGTCGGGT others(33): Show AGTCGGGTGATGCTCCCAAGTCCGCAGTCGGGGATGAAGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 NA18967.hp1 HG03834.hp2 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0064 a0002c0002t0052 a0001c0001t0064 a0002c0002t0052	a0001c0001t0064g0128 a0002c0002t0052g0194 a0001c0001t0064g0128 a0002c0002t0052g0194	2	268	0.0075	40	c.40 others(49): Show c.406_*445dupTGCTCCCAAGTCCGCAGTCGGGGATGAAGCGGTCGG GTGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	446	INFO_REALIGN_3_PRIME	chr5	TogoVar
AIF1L_chr9_131091531_131128144	131096449	A A	AGGGGAGG others(33): Show AGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	424	0.0024	40	c.-18 others(49): Show c.-181_-180insGGGGAGGGGCGAGGCGGGAGGGGAGGGGCGAGGCGG GGAG	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		81		chr9	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(33): Show AAAATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03688.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0306 a0001c0001t0002g0307	2	442	0.0045	40	c.135 others(55): Show c.135+477_135+478insAATATACATATATATATATATATATATATA TATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AATATACA others(33): Show AATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	442	0.0023	40	c.135 others(55): Show c.135+481_135+482insCATATATATATATATATATATATATATATA TATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIP_chr11_67478026_67496103	67488715	C C	CCGCCTGC others(33): Show CCGCCTGCCTTGGCCTCCCGAAGTGCTAGGATTACAGGCGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	342	0.0029	40	c.280 others(55): Show c.280-548_280-547insTGCCTTGGCCTCCCGAAGTGCTAGGATTAC AGGCGTCGCC	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
AK3_chr9_4704556_4746202	4714065	C C	CAGCTACA others(33): Show CAGCTACACATATACATCTACACATATACACCTCCACATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01069.hp1 others(47): Show HG00280.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18954.hp2 NA18978.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 others(9): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044	a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0063 others(47): Show a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0063 a0001c0001t0004g0082 a0001c0001t0004g0099 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0123 a0001c0001t0004g0177 a0001c0001t0004g0214 a0001c0001t0004g0221 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0242 a0001c0001t0004g0300 a0001c0001t0004g0312 a0001c0001t0004g0324 a0001c0001t0004g0380 a0001c0001t0004g0398 a0001c0001t0004g0399 a0001c0001t0004g0418 a0001c0001t0004g0422 a0001c0001t0004g0424 a0001c0001t0004g0427 a0001c0001t0013g0217 a0001c0001t0013g0227 a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0013g0230 a0001c0001t0014g0334 a0001c0001t0014g0336 a0001c0001t0014g0337 a0001c0001t0014g0338 a0001c0001t0014g0340 a0001c0001t0024g0397 a0001c0001t0024g0400 a0001c0001t0028g0108 a0001c0001t0037g0213 a0001c0001t0038g0164 a0001c0001t0040g0417 a0001c0001t0041g0374 a0001c0001t0042g0219 a0001c0001t0043g0038 a0001c0001t0044g0169	50	462	0.1082	40	c.564 others(55): Show c.564-970_564-969insATATGTGGAGGTGTATATGTGTAGATGTAT ATGTGTAGCT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG02132.hp1 others(8): Show HG01099.hp2 HG01257.hp2 HG02132.hp1 HG02145.hp1 NA18942.hp2 NA18951.hp1 NA18967.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0002c0002t0005	a0001c0001t0001g0111 a0001c0001t0003g0157 a0001c0001t0003g0160 others(8): Show a0001c0001t0001g0111 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0006g0144 a0001c0001t0006g0193 a0001c0001t0019g0158 a0002c0002t0005g0192	11	284	0.0387	40	c.891 others(59): Show c.891+27011_891+27012insTATATATATATATATATATAATATAT ATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01978.hp2 HG03239.hp1 others(1): Show HG01934.hp2 HG01978.hp2 HG03239.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0022 a0001c0001t0004g0034 a0001c0001t0006g0228 others(1): Show a0001c0001t0004g0022 a0001c0001t0004g0034 a0001c0001t0006g0228 a0001c0001t0006g0233	4	284	0.0141	40	c.891 others(59): Show c.891+27011_891+27012insTATATATATATATATATATATTATAT ATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP10_chr17_19899302_19982828	19946236	A A	AAAATATA others(33): Show AAAATATATATATATATATATTTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0026 a0006c0010t0026	a0006c0010t0026g0177 a0006c0010t0026g0177	1	278	0.0036	40	c.976 others(57): Show c.976+1170_976+1171insAATATATATATATATATAAAATATATAT ATATATATATTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(33): Show GATATAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19074.hp2 HG00558.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0007 a0001c0004t0001 a0002c0001t0007	a0001c0004t0001g0172 a0002c0001t0007g0184 a0001c0004t0001g0172 a0002c0001t0007g0184	2	314	0.0064	40	c.33+ others(57): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1588286	T T	TCCTTTCC others(33): Show TCCTTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	151	0.0066	40	c.-35 others(51): Show c.-3503_-3502insCCTTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTT TCCCTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3317		chrX	TogoVar

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