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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Select column to sort.

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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
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0200 a0001c0003t0022g0200	1	382	0.0026	19	c.502 others(36): Show c.502-6874_502-6873insAAAAATATATATATATATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC44A1_chr9_105239651_105402346	105354039	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0046 a0002c0002t0012g0046	1	142	0.0070	19	c.501 others(36): Show c.501-2162_501-2144dupTTTTTTTTTTTTTTTTTTT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp1 HG02559.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0080 a0002c0002t0043 a0002c0002t0080	a0002c0002t0043g0121 a0002c0002t0080g0051 a0002c0002t0043g0121 a0002c0002t0080g0051	2	142	0.0141	19	c.195 others(38): Show c.1950+1559_1950+1560insAAAAAAATATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0142 a0001c0001t0071g0142	1	142	0.0070	19	c.195 others(38): Show c.1950+1559_1950+1560insAAATATATATATATATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A5_chr1_75197129_75616114	75537033	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp1 HG02698.hp2 HG01496.hp1 HG01516.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0008g0049 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0008g0049	3	156	0.0192	19	c.13+ others(34): Show c.13+4401_13+4402insATATATATATATTTTTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75537033	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04184.hp2 HG03453.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0046 a0001c0003t0001g0103 a0001c0001t0001g0046 a0001c0003t0001g0103	2	156	0.0128	19	c.13+ others(34): Show c.13+4401_13+4402insATATATATATATATTTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75537034	A A	AAAAAATA others(12): Show AAAAAATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0104 a0001c0007t0002g0104	1	156	0.0064	19	c.13+ others(34): Show c.13+4400_13+4401insCATATATATATATATTTTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8321393	T T	TAAAACCC others(12): Show TAAAACCCATCTCTTAGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(199): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0006 a0002c0009 a0004c0023 a0005c0020 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0005t0003 a0001c0008t0001 a0001c0018t0002 a0001c0021t0001 a0001c0022t0002 a0001c0024t0001 a0002c0006t0001 a0002c0009t0001 a0004c0023t0001 a0005c0020t0001 a0006c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0322 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0003g0071 a0001c0001t0006g0164 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0168 a0001c0003t0001g0066 a0001c0003t0001g0127 a0001c0003t0001g0167 a0001c0003t0002g0018 a0001c0005t0002g0095 a0001c0005t0003g0136 a0001c0008t0001g0001 a0001c0008t0001g0009 a0001c0018t0002g0141 a0001c0021t0001g0115 a0001c0022t0002g0140 a0001c0024t0001g0084 a0002c0006t0001g0039 a0002c0009t0001g0125 a0002c0009t0001g0148 a0004c0023t0001g0144 a0005c0020t0001g0205 a0006c0019t0001g0073	202	388	0.5206	19	c.-24 others(36): Show c.-24-2912_-24-2894dupAAAACCCATCTCTTAGCAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8342804	T T	TGGGAGGA others(12): Show TGGGAGGATCACTTGAGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0018 a0001c0022 a0001c0026 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0010t0001 a0001c0018t0002 a0001c0022t0002 a0001c0026t0001 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0007t0001 a0002c0009t0001 a0002c0013t0001	a0001c0001t0001g0019 a0001c0001t0001g0097 a0001c0001t0001g0135 others(112): Show a0001c0001t0001g0019 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0251 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0006g0164 a0001c0002t0001g0218 a0001c0002t0002g0231 a0001c0002t0002g0247 a0001c0003t0002g0018 a0001c0003t0002g0199 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0232 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0272 a0001c0005t0001g0032 a0001c0005t0001g0294 a0001c0005t0001g0303 a0001c0005t0001g0308 a0001c0005t0001g0311 a0001c0005t0002g0095 a0001c0010t0001g0185 a0001c0010t0001g0186 a0001c0018t0002g0141 a0001c0022t0002g0140 a0001c0026t0001g0183 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0040 a0002c0004t0001g0283 a0002c0004t0001g0284 a0002c0004t0001g0285 a0002c0004t0001g0286 a0002c0004t0001g0287 a0002c0004t0001g0288 a0002c0004t0001g0289 a0002c0004t0001g0290 a0002c0004t0001g0292 a0002c0004t0001g0293 a0002c0004t0001g0295 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0304 a0002c0004t0001g0305 a0002c0004t0001g0309 a0002c0004t0001g0310 a0002c0004t0001g0316 a0002c0004t0001g0317 a0002c0004t0001g0318 a0002c0004t0001g0319 a0002c0004t0002g0031 a0002c0006t0001g0039 a0002c0006t0001g0175 a0002c0006t0001g0207 a0002c0006t0001g0208 a0002c0006t0001g0210 a0002c0006t0001g0211 a0002c0006t0001g0212 a0002c0006t0001g0213 a0002c0007t0001g0026 a0002c0007t0001g0220 a0002c0007t0001g0254 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0007t0001g0263 a0002c0007t0001g0281 a0002c0009t0001g0029 a0002c0009t0001g0125 a0002c0009t0001g0148 a0002c0009t0001g0301 a0002c0009t0001g0302 a0002c0009t0001g0307 a0002c0009t0001g0320 a0002c0013t0001g0306	131	388	0.3376	19	c.198 others(36): Show c.1981-942_1981-924dupGGGAGGATCACTTGAGCCC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141301734	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01433.hp2 others(1): Show HG00323.hp1 HG00741.hp2 HG01433.hp2 HG01952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0088 a0002c0001t0001g0094 a0002c0001t0001g0095 others(1): Show a0002c0001t0001g0088 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0098	4	188	0.0213	19	c.-40 others(38): Show c.-401+6343_-401+6361dupTTTTTTTTTTTTTTTTTTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(12): Show AATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18992.hp2 NA18960.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	2	426	0.0047	19	c.189 others(34): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC4A1_chr17_44243390_44273135	44263721	C C	CCTTCCTT others(12): Show CCTTCCTTCCTCCATCCCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0216 a0001c0016t0015g0216	1	406	0.0025	19	c.-68 others(34): Show c.-68-788_-68-787insCAGGGATGGAGGAAGGAAG	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A2_chr7_151054589_151081523	151069140	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00735.hp1 others(8): Show HG00280.hp1 HG00642.hp1 HG00735.hp1 HG02027.hp2 HG02155.hp1 HG02970.hp1 HG04184.hp1 NA18612.hp2 NA19085.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0011 a0001c0017 others(3): Show a0001c0007 a0001c0011 a0001c0017 a0001c0032 a0001c0034 a0002c0001	a0001c0007t0001 a0001c0011t0001 a0001c0011t0004 others(4): Show a0001c0007t0001 a0001c0011t0001 a0001c0011t0004 a0001c0017t0001 a0001c0032t0001 a0001c0034t0001 a0002c0001t0002	a0001c0007t0001g0138 a0001c0007t0001g0144 a0001c0011t0001g0137 others(7): Show a0001c0007t0001g0138 a0001c0007t0001g0144 a0001c0011t0001g0137 a0001c0011t0004g0143 a0001c0017t0001g0042 a0001c0032t0001g0047 a0001c0034t0001g0047 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0157	11	406	0.0271	19	c.114 others(36): Show c.1148-806_1148-788dupAAAAAAAAAAAAAAAAAAA	SLC4A2	ENSG00000164889.15	transcript	ENST00000413384.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A4_chr4_71182259_71577083	71196834	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	152	0.0066	19	c.-2+ others(34): Show c.-2+9455_-2+9473dupAAAAAAAAAAAAAAAAAAA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71388831	A A	ATGAGCCA others(12): Show ATGAGCCACCATGCCTGGCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	152	0.0066	19	c.731 others(36): Show c.731-8744_731-8726dupGAGCCACCATGCCTGGCCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71388831	A A	ATGAGCCA others(12): Show ATGAGCCACCATGCCTGGCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	234	0.0043	19	c.599 others(36): Show c.599-8744_599-8726dupGAGCCACCATGCCTGGCCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	378	0.0027	19	c.-25 others(36): Show c.-25+3156_-25+3157insAAAAAAAAAAAAATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0216 a0002c0009t0001g0216	1	378	0.0027	19	c.-25 others(36): Show c.-25+3156_-25+3157insAAAAAAAAAAATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24914095	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03139.hp2 HG03041.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0016 a0003c0006t0001g0161 a0001c0001t0001g0016 a0003c0006t0001g0161	2	378	0.0053	19	c.25 others(30): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTT	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding		2470		chr16	TogoVar
SLC5A3_chr21_34068578_34111260	34068799	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03041.hp2 HG02896.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	2	344	0.0058	19	c.-52 others(30): Show c.-5283_-5282insAAAAAAAAAAAAAAAAAAA	SLC5A3	ENSG00000198743.7	transcript	ENST00000381151.5	protein_coding		4778		chr21	TogoVar
SLC66A1_chr1_19307326_19334300	19312096	G G	GAGACTAC others(12): Show GAGACTACGCGAGACGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG01106.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0147 a0001c0001t0001g0150	2	456	0.0044	19	c.-87 others(28): Show c.-872_-871insAGACTACGCGAGACGCGGC	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding		229		chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319609	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	456	0.0022	19	c.164 others(36): Show c.164+1780_164+1781insTTTTTTGTTTTTTTTTTTT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A3_chr2_11150467_11183856	11164345	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	404	0.0025	19	c.354 others(32): Show c.354+85_354+86insATATATATTTTTTTTTTTT	SLC66A3	ENSG00000162976.13	transcript	ENST00000295083.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC6A11_chr3_10811228_10945714	10933352	C C	CTTGGTCT others(12): Show CTTGGTCTATACTGGCCTCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0002 a0005c0022t0002	a0005c0022t0002g0142 a0005c0022t0002g0142	1	362	0.0028	19	c.147 others(36): Show c.1474+101_1474+119dupTGGTCTATACTGGCCTCTT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A15_chr12_84854491_84917799	84904250	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	218	0.0046	19	c.-18 others(38): Show c.-189+8272_-189+8273insCTCTCTCTCTCTCTCTCTC	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC6A16_chr19_49284638_49330191	49313072	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	338	0.0030	19	c.-64 others(36): Show c.-64-1680_-64-1662dupTTTTTTTTTTTTTTTTTTT	SLC6A16	ENSG00000063127.16	transcript	ENST00000335875.9	protein_coding	1/11			chr19	TogoVar
SLC6A5_chr11_20594608_20664285	20660346	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0250 a0002c0002t0021g0250	1	354	0.0028	19	c.54 others(30): Show c.5478_*5479insGTGTGTGTGTGTGTGTGTG	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding		1062		chr11	TogoVar
SLC6A6_chr3_14397606_14494349	14398623	T T	TTCAAACG others(12): Show TTCAAACGGGCACGGAACGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	376	0.0027	19	c.-42 others(30): Show c.-4278_-4277insTCAAACGGGCACGGAACGA	SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding		3982		chr3	TogoVar
SLC6A9_chr1_43991483_44036462	44020969	A A	AACAAAGC others(12): Show AACAAAGCTCACCAAGGCCT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0133 a0006c0007t0001g0133	1	388	0.0026	19	c.30+ others(34): Show c.30+3260_30+3278dupAGGCCTTGGTGAGCTTTGT	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding	2/13			chr1	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0120 a0001c0001t0012g0120	1	364	0.0028	19	c.278 others(36): Show c.278-1287_278-1286insATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	364	0.0028	19	c.278 others(36): Show c.278-1287_278-1286insAAAAATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	364	0.0028	19	c.278 others(36): Show c.278-1287_278-1286insAAAAAAATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	364	0.0028	19	c.278 others(36): Show c.278-1288_278-1287insTATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29558228	A A	AGGGGGAC others(12): Show AGGGGGACTGAATCTGAATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01167.hp2 others(10): Show HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG02683.hp2 HG02698.hp2 HG03486.hp1 NA18522.hp2 NA18957.hp1 NA18967.hp1 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0015 others(1): Show a0001c0001 a0001c0004 a0001c0015 a0003c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0040 a0001c0004t0006 a0001c0015t0001 a0003c0018t0042	a0001c0001t0001g0069 a0001c0001t0001g0236 a0001c0001t0001g0266 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0236 a0001c0001t0001g0266 a0001c0001t0003g0176 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0009g0302 a0001c0001t0013g0036 a0001c0001t0020g0013 a0001c0001t0040g0235 a0001c0004t0006g0219 a0001c0015t0001g0233 a0003c0018t0042g0248	13	330	0.0394	19	c.-11 others(38): Show c.-114-4369_-114-4368insCATTCAGATTCAGTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558290	G G	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0193 a0001c0001t0012g0193	1	330	0.0030	19	c.-11 others(38): Show c.-114-4431_-114-4430insTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558472	G G	GGGGGAGA others(12): Show GGGGGAGAGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02896.hp2 others(1): Show HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0025 a0001c0001t0001 a0001c0011t0025	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0011t0025g0113 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0011t0025g0113 a0001c0011t0025g0114	4	330	0.0121	19	c.-11 others(38): Show c.-114-4613_-114-4612insTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559472	G G	GGGGGAGA others(12): Show GGGGGAGAGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG02723.hp1 HG01243.hp2 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295	3	330	0.0091	19	c.-11 others(38): Show c.-114-5613_-114-5612insTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559472	G G	GGGGGAGT others(12): Show GGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG02896.hp1 others(8): Show HG00558.hp1 HG01071.hp2 HG02896.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 NA18522.hp2 NA18940.hp2 NA18957.hp1 NA18967.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0004t0006 a0001c0004t0011 a0001c0012t0032	a0001c0001t0001g0234 a0001c0001t0001g0266 a0001c0001t0001g0276 others(7): Show a0001c0001t0001g0234 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0003g0077 a0001c0001t0013g0036 a0001c0001t0014g0011 a0001c0001t0020g0013 a0001c0004t0006g0219 a0001c0004t0011g0092 a0001c0012t0032g0057	11	330	0.0333	19	c.-11 others(38): Show c.-114-5613_-114-5612insTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559473	G G	GGGGAGTG others(12): Show GGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp1 HG02698.hp2 HG01358.hp1 HG01433.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0009 a0001c0015t0001 a0001c0001t0001 a0001c0001t0009 a0001c0015t0001	a0001c0001t0001g0236 a0001c0001t0009g0302 a0001c0015t0001g0233 a0001c0001t0001g0236 a0001c0001t0009g0302 a0001c0015t0001g0233	3	330	0.0091	19	c.-11 others(38): Show c.-114-5614_-114-5613insGTCACTCACATTCACTCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A2_chr8_17492088_17575566	17520641	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	450	0.0022	19	c.-23 others(38): Show c.-23+18350_-23+18368dupAAAAAAAAAAAAAAAAAAA	SLC7A2	ENSG00000003989.18	transcript	ENST00000494857.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC7A7_chr14_22768222_22820435	22772488	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	402	0.0025	19	c.11 others(30): Show c.1103_*1121dupTTTTTTTTTTTTTTTTTTT	SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding		733		chr14	TogoVar
SLC7A8_chr14_23120295_23188660	23147077	T T	TATCCATC others(12): Show TATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	392	0.0026	19	c.509 others(36): Show c.509-3874_509-3873insGATGGATGGATGGATGGAT	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	3/10			chr14	TogoVar
SLC7A9_chr19_32825511_32874767	32844857	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02132.hp2 HG01123.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0044 a0002c0003t0002g0034 a0002c0003t0002g0044	2	404	0.0050	19	c.978 others(34): Show c.978-925_978-907dupTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02896.hp1 HG02897.hp1 HG02145.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0067 a0001c0001t0012 a0001c0001t0067	a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0067g0103 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0067g0103	3	236	0.0127	19	c.79 others(30): Show c.7955_*7973dupTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A3_chr14_70039215_70193951	70192043	T T	TAATAATA others(12): Show TAATAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA19068.hp1 HG02155.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0036 a0001c0001t0001g0052 a0001c0001t0002g0036	2	296	0.0068	19	c.-37 others(30): Show c.-3728_-3727insTATTATTATTATTATTATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3093		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192046	T T	TAATAATA others(12): Show TAATAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0056 a0001c0001t0047g0056	1	296	0.0034	19	c.-37 others(30): Show c.-3731_-3730insTATTATTATTATTATTATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3096		chr14	TogoVar
SLC9A1_chr1_27093809_27160125	27131947	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	234	0.0043	19	c.353 others(38): Show c.353-17662_353-17661insATATATATATATTTTTTTT	SLC9A1	ENSG00000090020.11	transcript	ENST00000263980.8	protein_coding	1/11			chr1	TogoVar
SLC9A2_chr2_102614553_102716355	102680081	T T	TTTTGTAT others(12): Show TTTTGTATAGGATTTGAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0001 a0001c0001t0002g0194 a0001c0001t0001g0212 a0001c0001t0002g0001 a0001c0001t0002g0194	4	344	0.0116	19	c.100 others(38): Show c.1005-3167_1005-3166insTGAGAATTTGTATAGGATT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	505794	G G	GGAGTGAC others(12): Show GGAGTGACCATGTGGGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	218	0.0046	19	c.212 others(38): Show c.212-13742_212-13724dupTCCCCCCACATGGTCACTC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp2 others(27): Show HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG01071.hp2 HG01109.hp2 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02559.hp2 HG02897.hp2 HG02965.hp2 HG03486.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18948.hp2 NA18990.hp1 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0014 a0003c0032 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0003t0008 a0002c0002t0002 a0002c0004t0015 a0002c0004t0025 a0003c0014t0001 a0003c0032t0007 a0010c0017t0004	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0004g0013 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0130 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0007g0035 a0001c0001t0007g0065 a0001c0001t0011g0117 a0001c0001t0014g0060 a0001c0003t0008g0112 a0001c0003t0008g0118 a0002c0002t0002g0058 a0002c0004t0015g0133 a0002c0004t0025g0143 a0003c0014t0001g0162 a0003c0032t0007g0161 a0010c0017t0004g0123	30	218	0.1376	19	c.212 others(38): Show c.212-15114_212-15096dupAAAAAAAAAAAAAAAAAAA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar

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