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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCC3_chr17_50629881_50697253	50671702	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0334 a0002c0006t0001g0334	1	342	0.0029	-12	c.224 others(31): Show c.2242-1250_2242-1239delTTTTTTTTTTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673970	TTCTTTCT others(5): Show TTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	342	0.0029	-12	c.259 others(29): Show c.2599+316_2599+327delTTCTTTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673978	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0270 a0006c0011t0001g0270	1	342	0.0029	-12	c.259 others(29): Show c.2599+368_2599+379delCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674026	CTCTCTCT others(5): Show CTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	342	0.0029	-12	c.259 others(29): Show c.2599+372_2599+383delCTCTCTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18522.hp1 NA18990.hp2 HG03927.hp1 NA18522.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0208 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0208	3	342	0.0088	-12	c.259 others(29): Show c.2599+406_2599+417delCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95029205	TATATATA others(5): Show TATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0010 a0002c0028t0010	a0002c0028t0010g0014 a0002c0028t0010g0014	1	248	0.0040	-12	c.387 others(31): Show c.3870+5388_3870+5399delCTCTATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029243	GAGAGAGA others(5): Show GAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03139.hp1 HG02717.hp1 HG02818.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0026 a0001c0050 a0002c0028 a0001c0026 a0001c0050 a0002c0028	a0001c0026t0005 a0001c0050t0005 a0002c0028t0005 a0001c0026t0005 a0001c0050t0005 a0002c0028t0005	a0001c0026t0005g0133 a0001c0050t0005g0038 a0002c0028t0005g0059 a0001c0026t0005g0133 a0001c0050t0005g0038 a0002c0028t0005g0059	3	248	0.0121	-12	c.387 others(31): Show c.3870+5350_3870+5361delTTCTCTCTCTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95054021	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18975.hp1 NA19060.hp2 HG03041.hp1 NA18975.hp1 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0011 a0001c0024 a0005c0018 a0001c0011 a0001c0024 a0005c0018	a0001c0011t0002 a0001c0024t0001 a0005c0018t0002 a0001c0011t0002 a0001c0024t0001 a0005c0018t0002	a0001c0011t0002g0101 a0001c0024t0001g0118 a0005c0018t0002g0108 a0001c0011t0002g0101 a0001c0024t0001g0118 a0005c0018t0002g0108	3	248	0.0121	-12	c.336 others(29): Show c.3367-849_3367-838delAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95061594	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp2 HG01981.hp1 others(8): Show HG00558.hp1 HG01243.hp2 HG01981.hp1 HG02080.hp2 HG02155.hp1 HG03579.hp1 HG03710.hp1 NA18979.hp2 NA18985.hp2 NA19011.hp1 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0040 others(6): Show a0001c0001 a0001c0002 a0001c0040 a0001c0054 a0001c0066 a0003c0008 a0004c0006 a0007c0070 a0008c0032	a0001c0001t0001 a0001c0002t0001 a0001c0040t0003 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0040t0003 a0001c0054t0003 a0001c0066t0003 a0003c0008t0001 a0004c0006t0001 a0007c0070t0005 a0008c0032t0001	a0001c0001t0001g0206 a0001c0002t0001g0181 a0001c0002t0001g0188 others(8): Show a0001c0001t0001g0206 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0040t0003g0124 a0001c0054t0003g0131 a0001c0066t0003g0035 a0003c0008t0001g0099 a0004c0006t0001g0192 a0007c0070t0005g0054 a0008c0032t0001g0004	11	248	0.0444	-12	c.336 others(31): Show c.3366+1098_3366+1109delCACACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064252	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0077 a0001c0003t0005g0077	1	248	0.0040	-12	c.321 others(31): Show c.3211-1405_3211-1394delTATACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064254	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0182 a0002c0004t0001g0182	1	248	0.0040	-12	c.321 others(31): Show c.3211-1407_3211-1396delTATATACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064256	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0006 a0002c0059t0006	a0002c0059t0006g0058 a0002c0059t0006g0058	1	248	0.0040	-12	c.321 others(31): Show c.3211-1409_3211-1398delTATATATACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95095286	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02080.hp2 NA18747.hp2 HG01981.hp1 HG02080.hp2 NA18747.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0066 a0003c0008 a0004c0006 a0001c0066 a0003c0008 a0004c0006	a0001c0066t0003 a0003c0008t0001 a0004c0006t0015 a0001c0066t0003 a0003c0008t0001 a0004c0006t0015	a0001c0066t0003g0035 a0003c0008t0001g0099 a0004c0006t0015g0105 a0001c0066t0003g0035 a0003c0008t0001g0099 a0004c0006t0015g0105	3	248	0.0121	-12	c.253 others(33): Show c.2536-12008_2536-11997delGATAGATAGATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95113579	AAAAAAAT others(5): Show AAAAAAATTACAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	248	0.0040	-12	c.253 others(31): Show c.2535+2331_2535+2342delATGTAATTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95124562	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG02258.hp1 others(1): Show HG01109.hp1 HG01981.hp1 HG02258.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0054 a0001c0066 a0007c0043 others(1): Show a0001c0054 a0001c0066 a0007c0043 a0007c0069	a0001c0054t0003 a0001c0066t0003 a0007c0043t0009 others(1): Show a0001c0054t0003 a0001c0066t0003 a0007c0043t0009 a0007c0069t0009	a0001c0054t0003g0131 a0001c0066t0003g0035 a0007c0043t0009g0097 others(1): Show a0001c0054t0003g0131 a0001c0066t0003g0035 a0007c0043t0009g0097 a0007c0069t0009g0043	4	248	0.0161	-12	c.245 others(31): Show c.2456-8573_2456-8562delTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126720	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01099.hp2 others(15): Show HG00642.hp1 HG01069.hp2 HG01099.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG02148.hp1 HG02572.hp2 HG02622.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA20752.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0014 a0001c0017 a0001c0022 a0001c0025 a0001c0041 a0001c0071 a0002c0004 a0002c0015 a0011c0056	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(11): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0010t0007 a0001c0014t0007 a0001c0017t0006 a0001c0022t0022 a0001c0025t0009 a0001c0041t0009 a0001c0071t0009 a0002c0004t0002 a0002c0004t0010 a0002c0015t0007 a0011c0056t0009	a0001c0001t0002g0197 a0001c0002t0002g0125 a0001c0003t0002g0023 others(15): Show a0001c0001t0002g0197 a0001c0002t0002g0125 a0001c0003t0002g0023 a0001c0010t0007g0143 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0014t0007g0170 a0001c0014t0007g0172 a0001c0017t0006g0138 a0001c0022t0022g0161 a0001c0025t0009g0121 a0001c0041t0009g0127 a0001c0071t0009g0010 a0002c0004t0002g0052 a0002c0004t0010g0122 a0002c0015t0007g0071 a0002c0015t0007g0091 a0011c0056t0009g0090	18	248	0.0726	-12	c.245 others(33): Show c.2456-10731_2456-10720delATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159093	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp1 HG01975.hp2 others(3): Show HG01069.hp2 HG01255.hp1 HG01975.hp2 HG02145.hp1 HG02622.hp2 HG04204.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0044 others(3): Show a0001c0001 a0001c0003 a0001c0044 a0002c0005 a0002c0059 a0006c0027	a0001c0001t0002 a0001c0003t0001 a0001c0044t0004 others(3): Show a0001c0001t0002 a0001c0003t0001 a0001c0044t0004 a0002c0005t0013 a0002c0059t0006 a0006c0027t0002	a0001c0001t0002g0197 a0001c0003t0001g0098 a0001c0044t0004g0117 others(3): Show a0001c0001t0002g0197 a0001c0003t0001g0098 a0001c0044t0004g0117 a0002c0005t0013g0060 a0002c0059t0006g0058 a0006c0027t0002g0194	6	248	0.0242	-12	c.245 others(31): Show c.2455+2084_2455+2095delTATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95167177	CATAAATA others(5): Show CATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00673.hp2 others(14): Show HG00423.hp1 HG00609.hp2 HG00673.hp2 HG01099.hp1 HG02622.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp2 NA18951.hp1 NA18951.hp2 NA18966.hp2 NA18969.hp1 NA19002.hp2 NA19074.hp2 NA19079.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0014 a0001c0017 a0002c0005 a0004c0006 a0014c0058	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0025 a0001c0007t0002 a0001c0012t0016 a0001c0014t0008 a0001c0017t0002 a0001c0017t0006 a0002c0005t0002 a0004c0006t0001 a0004c0006t0002 a0014c0058t0001	a0001c0001t0001g0211 a0001c0001t0002g0106 a0001c0002t0002g0165 others(14): Show a0001c0001t0001g0211 a0001c0001t0002g0106 a0001c0002t0002g0165 a0001c0002t0002g0190 a0001c0003t0001g0134 a0001c0003t0001g0149 a0001c0003t0025g0243 a0001c0007t0002g0107 a0001c0012t0016g0089 a0001c0014t0008g0242 a0001c0017t0002g0115 a0001c0017t0006g0138 a0002c0005t0002g0217 a0004c0006t0001g0137 a0004c0006t0001g0176 a0004c0006t0002g0061 a0014c0058t0001g0218	17	248	0.0686	-12	c.182 others(29): Show c.1825-822_1825-811delTTATTTATTTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	14/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95176219	AGGGCAGG others(5): Show AGGGCAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03098.hp1 HG02055.hp1 HG02145.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0015 a0002c0020 a0002c0005 a0002c0015 a0002c0020	a0002c0005t0013 a0002c0015t0011 a0002c0020t0004 a0002c0005t0013 a0002c0015t0011 a0002c0020t0004	a0002c0005t0013g0060 a0002c0015t0011g0018 a0002c0020t0004g0130 a0002c0005t0013g0060 a0002c0015t0011g0018 a0002c0020t0004g0130	3	248	0.0121	-12	c.172 others(31): Show c.1727+1476_1727+1487delCCCCCCCTGCCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	13/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18522.hp1 HG00639.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0005 a0001c0003t0001 a0001c0009t0005	a0001c0003t0001g0155 a0001c0009t0005g0132 a0001c0003t0001g0155 a0001c0009t0005g0132	2	248	0.0081	-12	c.116 others(31): Show c.1162-1657_1162-1646delTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95214348	AGAAGAAA others(5): Show AGAAGAAATAGGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0051 a0002c0004t0002g0051	1	248	0.0040	-12	c.532 others(29): Show c.532-3579_532-3568delCCCTATTTCTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218927	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0157 a0004c0006t0001g0157	1	248	0.0040	-12	c.532 others(29): Show c.532-8158_532-8147delTTCTTTCTTTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225143	TCTCTCTC others(5): Show TCTCTCTCTCTCA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	248	0.0040	-12	c.531 others(29): Show c.531+9455_531+9466delTGAGAGAGAGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225147	TCTCTCTC others(5): Show TCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp1 NA19002.hp1 others(1): Show HG02258.hp1 HG03540.hp1 NA19002.hp1 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0012 a0007c0043 a0001c0002 a0001c0012 a0007c0043	a0001c0002t0001 a0001c0012t0006 a0001c0012t0016 others(1): Show a0001c0002t0001 a0001c0012t0006 a0001c0012t0016 a0007c0043t0009	a0001c0002t0001g0139 a0001c0012t0006g0224 a0001c0012t0016g0089 others(1): Show a0001c0002t0001g0139 a0001c0012t0006g0224 a0001c0012t0016g0089 a0007c0043t0009g0097	4	248	0.0161	-12	c.531 others(29): Show c.531+9451_531+9462delTGTGTGAGAGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225149	TCTCTCAC others(5): Show TCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp1 HG01981.hp2 others(4): Show HG00140.hp1 HG01891.hp1 HG01981.hp2 HG02148.hp2 HG02615.hp2 HG02886.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0049 others(1): Show a0001c0001 a0001c0022 a0001c0049 a0001c0051	a0001c0001t0001 a0001c0022t0011 a0001c0049t0003 others(1): Show a0001c0001t0001 a0001c0022t0011 a0001c0049t0003 a0001c0051t0012	a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0022t0011g0039 a0001c0049t0003g0067 a0001c0051t0012g0065	7	248	0.0282	-12	c.531 others(29): Show c.531+9449_531+9460delTGTGTGTGAGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225151	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0248 a0001c0001t0008g0248	1	248	0.0040	-12	c.531 others(29): Show c.531+9447_531+9458delTGTGTGTGTGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95240531	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01243.hp1 others(18): Show HG00280.hp1 HG01074.hp1 HG01243.hp1 HG01952.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0023 a0001c0050 a0001c0067 a0001c0068 a0003c0008 a0010c0034	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0003t0005 a0001c0007t0019 a0001c0009t0002 a0001c0009t0005 a0001c0010t0024 a0001c0012t0001 a0001c0014t0007 a0001c0023t0003 a0001c0050t0005 a0001c0067t0004 a0001c0068t0003 a0003c0008t0001 a0010c0034t0001	a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0189 others(18): Show a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0005g0044 a0001c0001t0006g0028 a0001c0001t0008g0246 a0001c0001t0020g0168 a0001c0003t0005g0019 a0001c0007t0019g0026 a0001c0009t0002g0021 a0001c0009t0005g0132 a0001c0010t0024g0024 a0001c0012t0001g0081 a0001c0014t0007g0170 a0001c0023t0003g0073 a0001c0050t0005g0038 a0001c0067t0004g0074 a0001c0068t0003g0007 a0003c0008t0001g0099 a0010c0034t0001g0001	21	248	0.0847	-12	c.307 others(29): Show c.307-5709_307-5698delGTGTGTGTGTGT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244596	TGAAAGAA others(5): Show TGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02155.hp2 HG02738.hp1 others(1): Show HG00323.hp2 HG02155.hp2 HG02738.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0001c0017 others(1): Show a0001c0002 a0001c0011 a0001c0017 a0002c0005	a0001c0002t0002 a0001c0011t0008 a0001c0017t0002 others(1): Show a0001c0002t0002 a0001c0011t0008 a0001c0017t0002 a0002c0005t0002	a0001c0002t0002g0116 a0001c0011t0008g0244 a0001c0017t0002g0086 others(1): Show a0001c0002t0002g0116 a0001c0011t0008g0244 a0001c0017t0002g0086 a0002c0005t0002g0232	4	248	0.0161	-12	c.306 others(29): Show c.306+2367_306+2378delTTTCTTTCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95283361	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG02055.hp1 others(4): Show HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02922.hp1 HG03098.hp2 HG04115.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0001c0013 a0001c0044 a0001c0046 a0002c0015	a0001c0001t0001 a0001c0002t0001 a0001c0011t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0002 a0001c0013t0006 a0001c0044t0004 a0001c0046t0001 a0002c0015t0011	a0001c0001t0001g0046 a0001c0002t0001g0109 a0001c0011t0002g0088 others(4): Show a0001c0001t0001g0046 a0001c0002t0001g0109 a0001c0011t0002g0088 a0001c0013t0006g0031 a0001c0044t0004g0117 a0001c0046t0001g0078 a0002c0015t0011g0018	7	248	0.0282	-12	c.74+ others(29): Show c.74+17868_74+17879delAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95296173	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00738.hp2 others(37): Show HG00323.hp2 HG00438.hp2 HG00738.hp2 HG01074.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02602.hp1 HG02922.hp1 HG03239.hp2 HG03453.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18951.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0001c0017 a0001c0039 a0001c0044 a0001c0046 a0001c0047 a0001c0065 a0002c0004 a0002c0005 a0003c0008 a0004c0006 a0004c0030 a0005c0018 a0006c0027 a0006c0057 a0012c0037 a0014c0058	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0007t0002 a0001c0009t0002 a0001c0011t0002 a0001c0017t0002 a0001c0039t0002 a0001c0044t0004 a0001c0046t0001 a0001c0047t0006 a0001c0065t0007 a0002c0004t0001 a0002c0004t0002 a0002c0004t0010 a0002c0005t0001 a0002c0005t0002 a0003c0008t0001 a0004c0006t0001 a0004c0006t0015 a0004c0030t0002 a0005c0018t0002 a0006c0027t0002 a0006c0057t0001 a0012c0037t0002 a0014c0058t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0103 others(37): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0002g0085 a0001c0001t0002g0106 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0002g0116 a0001c0003t0001g0098 a0001c0003t0001g0216 a0001c0003t0002g0114 a0001c0003t0014g0082 a0001c0007t0002g0107 a0001c0009t0002g0123 a0001c0011t0002g0101 a0001c0017t0002g0086 a0001c0017t0002g0115 a0001c0039t0002g0113 a0001c0044t0004g0117 a0001c0046t0001g0078 a0001c0047t0006g0120 a0001c0065t0007g0006 a0002c0004t0001g0079 a0002c0004t0002g0100 a0002c0004t0010g0122 a0002c0005t0001g0102 a0002c0005t0002g0111 a0002c0005t0002g0217 a0003c0008t0001g0099 a0004c0006t0001g0005 a0004c0006t0001g0104 a0004c0006t0001g0157 a0004c0006t0015g0105 a0004c0030t0002g0156 a0005c0018t0002g0108 a0006c0027t0002g0151 a0006c0057t0001g0087 a0012c0037t0002g0112 a0014c0058t0001g0218	40	248	0.1613	-12	c.74+ others(27): Show c.74+5056_74+5067delTTGTGTGTGTGT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183916420	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	378	0.0027	-12	c.48 others(23): Show c.4868_*4879delAAAAAAAAAAAA	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding		3513		chr3	TogoVar
ABCC5_chr3_183914934_184022884	183922035	TAATAAAT others(5): Show TAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	378	0.0027	-12	c.421 others(29): Show c.4213-646_4213-635delTATTTATTTATT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183990780	ACAAAAGT others(5): Show ACAAAAGTGCATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(26): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0002 a0001c0004t0004	a0001c0004t0002g0070 a0001c0004t0002g0304 a0001c0004t0004g0112 others(26): Show a0001c0004t0002g0070 a0001c0004t0002g0304 a0001c0004t0004g0112 a0001c0004t0004g0115 a0001c0004t0004g0116 a0001c0004t0004g0117 a0001c0004t0004g0118 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0121 a0001c0004t0004g0122 a0001c0004t0004g0123 a0001c0004t0004g0124 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0127 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0004t0004g0134 a0001c0004t0004g0135 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0255 a0001c0004t0004g0260 a0001c0004t0004g0290	29	378	0.0767	-12	c.130 others(29): Show c.130-1409_130-1398delCATGCACTTTTG	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16149372	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01346.hp1 others(26): Show HG00438.hp2 HG01109.hp2 HG01346.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03540.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18978.hp1 NA18985.hp2 NA18990.hp2 NA19007.hp1 NA19081.hp1 NA20300.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0013 a0018 a0029 a0042	a0001c0001 a0001c0006 a0001c0026 others(7): Show a0001c0001 a0001c0006 a0001c0026 a0002c0003 a0002c0014 a0006c0009 a0013c0050 a0018c0035 a0029c0058 a0042c0039	a0001c0001t0001 a0001c0006t0009 a0001c0026t0001 others(7): Show a0001c0001t0001 a0001c0006t0009 a0001c0026t0001 a0002c0003t0001 a0002c0014t0001 a0006c0009t0001 a0013c0050t0001 a0018c0035t0001 a0029c0058t0001 a0042c0039t0001	a0001c0001t0001g0339 a0001c0006t0009g0285 a0001c0026t0001g0272 others(26): Show a0001c0001t0001g0339 a0001c0006t0009g0285 a0001c0026t0001g0272 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0350 a0002c0014t0001g0289 a0002c0014t0001g0328 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0118 a0006c0009t0001g0120 a0013c0050t0001g0040 a0018c0035t0001g0077 a0029c0058t0001g0164 a0042c0039t0001g0032	29	357	0.0812	-12	c.74 others(21): Show c.749_*760delGTGTGTGTGTGT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		192		chr16	TogoVar
ABCC8_chr11_17387885_17481845	17399275	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	330	0.0030	-12	c.365 others(29): Show c.3651-846_3651-835delTTTTTTTTTTTT	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	29/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17450260	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03688.hp2 HG03834.hp2 others(7): Show HG00741.hp2 HG03688.hp2 HG03834.hp2 NA18940.hp1 NA18949.hp2 NA18964.hp1 NA19062.hp1 NA19068.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0012 a0001c0028 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0012t0001 a0001c0028t0001 a0002c0002t0001	a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0275 others(7): Show a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0275 a0001c0004t0001g0230 a0001c0004t0001g0257 a0001c0007t0001g0126 a0001c0012t0001g0171 a0001c0012t0001g0252 a0001c0028t0001g0077 a0002c0002t0001g0067	10	330	0.0303	-12	c.117 others(31): Show c.1177-1601_1177-1590delAAGAAAGAAAGA	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17455937	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02257.hp1 others(13): Show HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA19043.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0015 a0001c0017 others(6): Show a0001c0004 a0001c0015 a0001c0017 a0001c0022 a0001c0035 a0001c0070 a0001c0071 a0001c0081 a0003c0036	a0001c0004t0001 a0001c0015t0001 a0001c0017t0001 others(6): Show a0001c0004t0001 a0001c0015t0001 a0001c0017t0001 a0001c0022t0001 a0001c0035t0002 a0001c0070t0002 a0001c0071t0001 a0001c0081t0001 a0003c0036t0001	a0001c0004t0001g0296 a0001c0015t0001g0018 a0001c0015t0001g0019 others(13): Show a0001c0004t0001g0296 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0017t0001g0070 a0001c0022t0001g0072 a0001c0035t0002g0013 a0001c0070t0002g0008 a0001c0071t0001g0071 a0001c0081t0001g0017 a0003c0036t0001g0045	16	330	0.0485	-12	c.101 others(31): Show c.1012-2666_1012-2655delTTTTTTTTTTTT	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	6/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21827527	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 NA19030.hp2 HG02572.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0003t0016 a0001c0006t0005 a0001c0001t0002 a0001c0003t0016 a0001c0006t0005	a0001c0001t0002g0043 a0001c0003t0016g0173 a0001c0006t0005g0192 a0001c0001t0002g0043 a0001c0003t0016g0173 a0001c0006t0005g0192	3	212	0.0142	-12	c.366 others(31): Show c.3669+1419_3669+1430delGTGTGTGTGTGT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	31/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21829191	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0196 a0001c0001t0019g0196	1	212	0.0047	-12	c.356 others(29): Show c.3567-143_3567-132delAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21830974	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02145.hp2 others(11): Show HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG06807.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0002t0012 a0001c0003t0007 a0003c0012t0001	a0001c0001t0001g0174 a0001c0001t0002g0033 a0001c0001t0002g0078 others(11): Show a0001c0001t0001g0174 a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0004g0127 a0001c0001t0004g0199 a0001c0002t0004g0183 a0001c0002t0012g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0003c0012t0001g0195	14	212	0.0660	-12	c.356 others(31): Show c.3567-1926_3567-1915delGATAGATAGATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21841347	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0079 a0001c0001t0005g0067 a0001c0001t0001g0079 a0001c0001t0005g0067	2	212	0.0094	-12	c.347 others(29): Show c.3473+955_3473+966delAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	29/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21888110	GGACAGAG others(5): Show GGACAGAGGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(37): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02132.hp2 HG02300.hp1 HG02698.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp1 HG03669.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18982.hp2 NA18992.hp2 NA19009.hp2 NA19065.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0193 a0001c0001t0003g0095 a0001c0001t0003g0105 a0001c0001t0003g0158 a0001c0001t0018g0003 a0001c0001t0019g0196 a0001c0001t0021g0122 a0001c0004t0001g0104 a0001c0004t0001g0119 a0001c0009t0001g0101	40	212	0.1887	-12	c.180 others(29): Show c.1803-188_1803-177delAACCCCTCTGTC	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	14/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915358	ATGTGTAT others(5): Show ATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	212	0.0047	-12	c.816 others(27): Show c.816+298_816+309delCATATATACACA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCD2_chr12_39545033_39624803	39559378	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp1 others(36): Show HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01884.hp2 HG02055.hp1 HG02056.hp1 HG02559.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18971.hp1 NA18988.hp2 NA19002.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0003c0009	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0002c0002t0004 a0003c0005t0011 a0003c0009t0011	a0001c0001t0004g0016 a0001c0001t0004g0051 a0001c0001t0004g0061 others(23): Show a0001c0001t0004g0016 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0134 a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0136 a0001c0001t0011g0081 a0002c0002t0004g0005 a0002c0002t0004g0028 a0002c0002t0004g0286 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0002t0004g0290 a0003c0005t0011g0027 a0003c0009t0011g0285	39	340	0.1147	-12	c.200 others(31): Show c.2004-5259_2004-5248delTTTTTTTTTTTT	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	9/9			chr12	TogoVar
ABCD2_chr12_39545033_39624803	39602127	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG00741.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0069 a0001c0001t0006g0052 a0001c0001t0001g0069 a0001c0001t0006g0052	2	340	0.0059	-12	c.150 others(31): Show c.1501-1423_1501-1412delTAAATAAATAAA	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	5/9			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94496694	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18957.hp2 NA18942.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0178 a0001c0001t0001g0179	2	362	0.0055	-12	c.138 others(31): Show c.1387-1890_1387-1879delTTTTTTTTTTTT	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCG1_chr21_42214140_42302244	42217679	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	354	0.0028	-12	c.-15 others(23): Show c.-1583_-1572delTTTTTTTTTTTT	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding		1460		chr21	TogoVar
ABCG1_chr21_42214140_42302244	42295333	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02145.hp1 HG02818.hp2 others(2): Show HG00140.hp1 HG02145.hp1 HG02818.hp2 HG02896.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0305 a0001c0001t0003g0326 a0001c0001t0009g0085 others(2): Show a0001c0001t0002g0305 a0001c0001t0003g0326 a0001c0001t0009g0085 a0001c0001t0009g0275 a0001c0001t0009g0323	5	354	0.0141	-12	c.177 others(29): Show c.1772+706_1772+717delAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG4_chr11_119144052_119167653	119147464	GGAAAGAA others(5): Show GGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp2 others(27): Show HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00642.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02735.hp1 HG02809.hp1 HG02965.hp2 HG03139.hp1 HG03490.hp2 NA18968.hp1 NA18969.hp1 NA18979.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0010 a0001c0001 a0002c0003 a0008c0010	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0002c0003t0003 a0008c0010t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0010g0032 a0001c0001t0016g0002 a0001c0001t0017g0002 a0002c0003t0003g0006 a0008c0010t0002g0002	30	388	0.0773	-12	c.-19 others(23): Show c.-1911_-1900delGAAAGAAAGAAA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1587		chr11	TogoVar
ABCG5_chr2_43807472_43843839	43833363	ATATTATT others(5): Show ATATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	330	0.0030	-12	c.266 others(29): Show c.266-1292_266-1281delATAATAATAATA	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	2/12			chr2	TogoVar

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