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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AQP4_chr18_26847043_26870707	26847497	CCCAAACA others(4): Show CCCAAACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	438	0.0023	-11	c.87 others(22): Show c.8703_*8713delTGTGTGTTTGG		AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding					4545		chr18	TogoVar
AQP5_chr12_49956872_49970682	49962252	GGCAACCA others(4): Show GGCAACCAGATC	G G	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	-11	c.236 others(18): Show c.236_246delGCAACCAGATC	p.Gly others(4): Show p.Gly79fs	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	382/1449	236/798	79/265			chr12	TogoVar
AQP7B_chr2_94582311_94609628	94599864	CTCTTTTT others(4): Show CTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG02615.hp1 HG01167.hp2 HG02055.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0245 a0001c0001t0001g0275 a0001c0001t0001g0203 a0001c0001t0001g0245 a0001c0001t0001g0275	3	384	0.0078	-11	c.157 others(28): Show c.157-2606_157-2596delTTCTTTTTTTT		AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
AQP7_chr9_33378191_33407568	33380420	ACACAACC others(4): Show ACACAACCAGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	438	0.0023	-11	c.45 others(22): Show c.4574_*4584delGACTGGTTGTG		AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding					2770		chr9	TogoVar
AQP7_chr9_33378191_33407568	33384891	TGTAAGAA others(4): Show TGTAAGAACCCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0342 a0001c0001t0014g0342	1	438	0.0023	-11	c.10 others(20): Show c.103_*113delTGGGTTCTTAC		AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8				103		chr9	TogoVar
AQP7_chr9_33378191_33407568	33396438	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	438	0.0023	-11	c.27- others(26): Show c.27-1254_27-1244delTTTTTTTTTTT		AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	2/7						chr9	TogoVar
AQP8_chr16_25211947_25233932	25216093	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0026 a0003c0005t0003g0026	1	420	0.0024	-11	c.-95 others(20): Show c.-952_-942delTTCTTTCTTTC		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding					853		chr16	TogoVar
AQP9_chr15_58133381_58190911	58138058	TGTTAACA others(4): Show TGTTAACATTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	2	416	0.0048	-11	c.-50 others(20): Show c.-507_-497delGTTAACATTGG		AQP9	ENSG00000103569.11	transcript	ENST00000219919.9	protein_coding					322		chr15	TogoVar
AQP9_chr15_58133381_58190911	58143395	TTAAACTA others(4): Show TTAAACTAAATC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18950.hp2 NA18979.hp2 others(7): Show HG02040.hp2 NA18950.hp2 NA18979.hp2 NA18991.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19058.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0295 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0003g0214 a0001c0001t0003g0297	10	416	0.0240	-11	c.111 others(28): Show c.111+4734_111+4744delACTAAATCTAA		AQP9	ENSG00000103569.11	transcript	ENST00000219919.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
AQR_chr15_34846782_34974742	34895188	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01433.hp1 others(3): Show HG00140.hp1 HG01123.hp2 HG01433.hp1 HG02886.hp1 HG03834.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0253 a0001c0002t0007g0251 a0001c0002t0007g0254 others(3): Show a0001c0002t0001g0253 a0001c0002t0007g0251 a0001c0002t0007g0254 a0001c0002t0007g0255 a0001c0002t0007g0256 a0001c0002t0007g0261	6	312	0.0192	-11	c.246 others(30): Show c.2461-1426_2461-1416delATATATATATA		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34930839	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(4): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02922.hp1 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 others(3): Show a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 a0001c0008t0050 a0001c0011t0055 a0001c0011t0057	a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 others(4): Show a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 a0001c0008t0049g0173 a0001c0008t0050g0174 a0001c0011t0055g0162 a0001c0011t0057g0160	7	312	0.0224	-11	c.901 others(26): Show c.901-479_901-469delCAAAAAAAAAA		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	11/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34949794	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG03209.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 others(4): Show a0001c0008t0021 a0001c0008t0044 a0001c0008t0049 a0001c0008t0050 a0001c0011t0054 a0001c0011t0055 a0001c0011t0057	a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 others(5): Show a0001c0008t0021g0176 a0001c0008t0021g0177 a0001c0008t0044g0175 a0001c0008t0049g0173 a0001c0008t0050g0174 a0001c0011t0054g0161 a0001c0011t0055g0162 a0001c0011t0057g0160	8	312	0.0256	-11	c.210 others(28): Show c.210-1421_210-1411delTTTTTTTTTTT		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	4/34						chr15	TogoVar
ARAF_chrX_47556205_47576908	47559312	AAAAAAAG others(4): Show AAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0119 a0001c0001t0004g0114 a0001c0001t0004g0119	2	318	0.0063	-11	c.-19 others(22): Show c.-1998_-1988delAAAAAAGAAAG		ARAF	ENSG00000078061.14	transcript	ENST00000377045.9	protein_coding					1892		chrX	TogoVar
ARAP1_chr11_72680069_72757408	72749468	AGGCTGTT others(4): Show AGGCTGTTACTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	354	0.0028	-11	c.-12 others(30): Show c.-128+2849_-128+2859delAAGTAACAGCC		ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding	1/34						chr11	TogoVar
ARAP2_chr4_36061004_36249514	36204987	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18747.hp2 NA18977.hp2 others(1): Show HG02886.hp1 NA18747.hp2 NA18977.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0241 others(1): Show a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0241 a0001c0001t0003g0227	4	278	0.0144	-11	c.148 others(30): Show c.1487+5392_1487+5402delTTTTTTTTTTT		ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	6/32						chr4	TogoVar
ARAP3_chr5_141648402_141687230	141683101	GTGTTTGT others(4): Show GTGTTTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02976.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG02976.hp1 HG03225.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0005 a0008c0017 a0010c0049 a0001c0005 a0008c0017 a0010c0049	a0001c0005t0003 a0008c0017t0001 a0010c0049t0001 a0001c0005t0003 a0008c0017t0001 a0010c0049t0001	a0001c0005t0003g0016 a0008c0017t0001g0205 a0010c0049t0001g0094 a0001c0005t0003g0016 a0008c0017t0001g0205 a0010c0049t0001g0094	4	416	0.0096	-11	c.-95 others(20): Show c.-957_-947delACACACAAACA		ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding					872		chr5	TogoVar
ARCN1_chr11_118567409_118608033	118578874	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG01516.hp2 others(5): Show HG00741.hp1 HG01433.hp1 HG01516.hp2 HG02976.hp1 HG03130.hp2 NA18960.hp1 NA19007.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0196 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0004g0238	8	368	0.0217	-11	c.4-2 others(24): Show c.4-2350_4-2340delTTTTTTTTTTT		ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
AREL1_chr14_74656256_74718080	74671321	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02976.hp1 others(2): Show HG02723.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 others(2): Show a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0196	5	374	0.0134	-11	c.149 others(26): Show c.1498+76_1498+86delAAAAAAAAAAA		AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	12/19						chr14	TogoVar
AREL1_chr14_74656256_74718080	74690264	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	374	0.0027	-11	c.-46 others(28): Show c.-46+1766_-46+1776delTTTTTTTTTTT		AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	2/19						chr14	TogoVar
ARF3_chr12_48930723_48962487	48932257	ATATATTT others(4): Show ATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA19067.hp1 HG00423.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0110 a0001c0001t0007g0010 a0001c0001t0002g0110 a0001c0001t0007g0010	2	348	0.0058	-11	c.66 others(22): Show c.6679_*6689delAAAAAAATATA		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					3465		chr12	TogoVar
ARF3_chr12_48930723_48962487	48932259	ATATTTTT others(4): Show ATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02818.hp2 others(2): Show HG00323.hp2 HG00621.hp1 HG02818.hp2 NA18940.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0002g0107 a0001c0001t0002g0119 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0107 a0001c0001t0002g0119 a0001c0001t0007g0010	5	348	0.0144	-11	c.66 others(22): Show c.6677_*6687delAAAAAAAAATA		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					3463		chr12	TogoVar
ARF3_chr12_48930723_48962487	48932261	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01496.hp2 NA18944.hp2 others(4): Show HG00673.hp1 HG01496.hp2 NA18944.hp2 NA18973.hp1 NA19003.hp2 NA19066.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0120 a0001c0001t0011g0105	7	348	0.0201	-11	c.66 others(22): Show c.6675_*6685delAAAAAAAAAAA		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					3461		chr12	TogoVar
ARF3_chr12_48930723_48962487	48935018	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19005.hp1 NA18979.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	348	0.0058	-11	c.39 others(22): Show c.3918_*3928delTTTTTTTTTTT		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					704		chr12	TogoVar
ARF6_chr14_49888082_49902054	49894453	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	344	0.0029	-11	c.20 others(20): Show c.201_*211delTTTTTTTTTTT		ARF6	ENSG00000165527.8	transcript	ENST00000298316.7	protein_coding	2/2				201	INFO_REALIGN_3_PRIME	chr14	TogoVar
ARFGAP1_chr20_63267813_63294790	63274273	GCTTCAGA others(4): Show GCTTCAGAATTT	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	342	0.0029	-11	c.-4- others(26): Show c.-4-1303_-4-1293delCTTCAGAATTT		ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	1/12						chr20	TogoVar
ARFGAP2_chr11_47159301_47181879	47170323	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	374	0.0027	-11	c.941 others(28): Show c.941+1092_941+1102delTTTTTTTTTTT		ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	10/15						chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47174367	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01358.hp2 HG04184.hp1 others(2): Show HG00738.hp2 HG01358.hp2 HG04184.hp1 NA19058.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0146 a0002c0002t0001g0016 a0002c0002t0001g0145 a0001c0001t0001g0146 a0002c0002t0001g0016 a0002c0002t0001g0145	5	374	0.0134	-11	c.481 others(26): Show c.481-538_481-528delAAAAAAAAAAA		ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	5/15						chr11	TogoVar
ARFGAP3_chr22_42791502_42862273	42803900	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG06807.hp2 HG01884.hp2 HG02055.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0344 a0001c0009t0004g0345 a0001c0009t0004g0346 a0001c0009t0004g0344 a0001c0009t0004g0345 a0001c0009t0004g0346	3	362	0.0083	-11	c.141 others(30): Show c.1411+3162_1411+3172delAAAAAAAAAAA		ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	14/15						chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42859694	AAATATAT others(4): Show AAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0344 a0001c0009t0004g0345 a0001c0009t0004g0344 a0001c0009t0004g0345	2	362	0.0055	-11	c.-25 others(22): Show c.-2523_-2513delATATATATATT		ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding					2422		chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42859696	ATATATAT others(4): Show ATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01934.hp2 HG02572.hp2 others(3): Show HG01517.hp2 HG01934.hp2 HG02572.hp2 NA19030.hp2 NA19043.hp2 NA19063.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0001c0009 a0009c0013 a0001c0003 a0001c0009 a0009c0013	a0001c0003t0002 a0001c0009t0004 a0009c0013t0004 a0001c0003t0002 a0001c0009t0004 a0009c0013t0004	a0001c0003t0002g0043 a0001c0003t0002g0339 a0001c0009t0004g0340 others(3): Show a0001c0003t0002g0043 a0001c0003t0002g0339 a0001c0009t0004g0340 a0001c0009t0004g0342 a0009c0013t0004g0341 a0009c0013t0004g0343	6	362	0.0166	-11	c.-25 others(22): Show c.-2525_-2515delATATATATATA		ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding					2424		chr22	TogoVar
ARFGEF1_chr8_67192658_67348781	67218206	AAATATAT others(4): Show AAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	208	0.0048	-11	c.433 others(26): Show c.4339-79_4339-69delATATATATATT		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38						chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67236362	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	208	0.0048	-11	c.328 others(30): Show c.3289+1970_3289+1980delATATATATTTT		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	22/38						chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67236366	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03490.hp2 HG03540.hp2 others(4): Show HG03041.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0003g0010	7	208	0.0337	-11	c.328 others(30): Show c.3289+1966_3289+1976delATATATATATA		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	22/38						chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67293206	TTTGTAAC others(4): Show TTTGTAACACAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0082 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0082	3	208	0.0144	-11	c.640 others(28): Show c.640-1094_640-1084delTTGTGTTACAA		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	5/38						chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48950808	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	352	0.0028	-11	c.277 others(26): Show c.277-513_277-503delAAATATATATA		ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38					INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	49039248	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	352	0.0028	-11	c.60 others(22): Show c.6050_*6060delAAAAAAAAAAA		ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding					2556		chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138158818	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	190	0.0053	-11	c.-32 others(22): Show c.-3268_-3258delTTTTTTTTTTT		ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding					3120		chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138174469	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18522.hp1 HG03490.hp1 HG03492.hp1 NA18522.hp1	a0002 a0002	a0002c0011 a0002c0012 a0002c0011 a0002c0012	a0002c0011t0052 a0002c0012t0001 a0002c0011t0052 a0002c0012t0001	a0002c0011t0052g0112 a0002c0012t0001g0001 a0002c0011t0052g0112 a0002c0012t0001g0001	3	190	0.0158	-11	c.137 others(28): Show c.137+3784_137+3794delAAAAAAAAAAA		ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	2/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARFIP1_chr4_152774954_152917357	152789080	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19002.hp1 HG02486.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0082 a0001c0001t0001g0086 a0001c0001t0002g0082	2	342	0.0059	-11	c.-10 others(28): Show c.-10+8872_-10+8882delTTTTTTTTTTT		ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152795820	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0040 a0002c0003t0002g0040	1	342	0.0029	-11	c.-10 others(30): Show c.-10+15616_-10+15626delTTTTTTTTTTT		ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152808283	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18947.hp2 HG03704.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0295 a0001c0001t0003g0125 a0001c0001t0001g0295 a0001c0001t0003g0125	2	342	0.0059	-11	c.-9- others(28): Show c.-9-21318_-9-21308delTTTTTTTTTTT		ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152822296	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 NA19043.hp2 HG02055.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193	3	342	0.0088	-11	c.-9- others(26): Show c.-9-7316_-9-7306delAAAAAAAAAAA		ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARGFX_chr3_121562949_121595622	121566274	TTGATAAA others(4): Show TTGATAAACATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01070.hp1 others(6): Show HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01257.hp2 HG02602.hp1 HG03831.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0002c0002t0006	a0001c0001t0001g0250 a0001c0001t0001g0293 a0001c0001t0001g0373 others(6): Show a0001c0001t0001g0250 a0001c0001t0001g0293 a0001c0001t0001g0373 a0001c0001t0002g0118 a0001c0001t0003g0033 a0001c0001t0003g0148 a0001c0001t0025g0305 a0001c0001t0025g0328 a0002c0002t0006g0211	9	410	0.0220	-11	c.-17 others(22): Show c.-1751_-1741delTGATAAACATA		ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding					1674		chr3	TogoVar
ARGFX_chr3_121562949_121595622	121579935	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp2 HG01071.hp1 others(9): Show HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01261.hp1 HG01981.hp1 HG02622.hp2 HG03209.hp2 HG03453.hp2 NA18939.hp2 NA18961.hp2 NA18971.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016	a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0070 others(7): Show a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0107 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0003g0001 a0001c0001t0005g0106 a0001c0001t0005g0114 a0001c0001t0016g0064	12	410	0.0293	-11	c.220 others(28): Show c.220+3040_220+3050delCTTTTCTTTTT		ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARGLU1_chr13_106536673_106573137	106545458	TATTCAAA others(4): Show TATTCAAATAAA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	376	0.0027	-11	c.658 others(28): Show c.658-1309_658-1299delTTTATTTGAAT		ARGLU1	ENSG00000134884.15	transcript	ENST00000400198.8	protein_coding	3/3						chr13	TogoVar
ARHGAP10_chr4_147727088_148077776	147784660	AATATATA others(4): Show AATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01891.hp1 others(32): Show HG01070.hp2 HG01071.hp1 HG01891.hp1 HG02080.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18979.hp1 NA18995.hp2 NA19043.hp1 NA19064.hp1 NA19087.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0002t0001g0066 a0001c0005t0001g0003 a0001c0005t0001g0074 a0001c0006t0001g0040 a0001c0006t0001g0042 a0001c0006t0001g0071 a0001c0009t0001g0007 a0002c0003t0001g0064	35	106	0.3302	-11	c.155 others(30): Show c.155-38062_155-38052delATATTATATAT		ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP11A_chr15_32610504_32644941	32621821	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	335	0.0060	-11	c.200 others(28): Show c.200+1651_201-1653delAAAAAAAAAAA		ARHGAP11A	ENSG00000198826.11	transcript	ENST00000361627.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP12_chr10_31800398_31933831	31849389	GGTAAAGA others(4): Show GGTAAAGACCAT	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0297 a0002c0002t0007g0297	1	322	0.0031	-11	c.117 others(30): Show c.1170+3117_1170+3127delATGGTCTTTAC		ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	6/19						chr10	TogoVar
ARHGAP12_chr10_31800398_31933831	31864976	AGTTAGCC others(4): Show AGTTAGCCCGGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02257.hp2 HG02717.hp2 others(3): Show HG00735.hp2 HG02257.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0010 a0001c0005t0016 a0001c0003t0010 a0001c0005t0016	a0001c0003t0010g0005 a0001c0003t0010g0011 a0001c0003t0010g0016 others(3): Show a0001c0003t0010g0005 a0001c0003t0010g0011 a0001c0003t0010g0016 a0001c0003t0010g0017 a0001c0005t0016g0007 a0001c0005t0016g0008	6	322	0.0186	-11	c.685 others(28): Show c.685-3329_685-3319delACCGGGCTAAC		ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	3/19						chr10	TogoVar
ARHGAP15_chr2_143124419_143773352	143266229	CTCACTTC others(4): Show CTCACTTCATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00621.hp2 others(16): Show HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01069.hp2 HG01243.hp1 HG01358.hp1 HG02071.hp1 HG02602.hp1 HG03490.hp2 HG03927.hp1 HG03942.hp2 NA18612.hp2 NA18947.hp1 NA18948.hp1 NA18953.hp1 NA18962.hp1 NA18970.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0002t0001g0065 a0001c0002t0001g0121 a0002c0004t0001g0060 a0003c0005t0001g0085	19	162	0.1173	-11	c.474 others(30): Show c.474+15630_474+15640delTCACTTCATAT		ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13						chr2	TogoVar

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