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
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02698.hp1 HG01106.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0032 a0001c0001t0001 a0002c0002t0032	a0001c0001t0001g0099 a0002c0002t0032g0157 a0001c0001t0001g0099 a0002c0002t0032g0157	2	362	0.0055	-10	c.817 others(25): Show c.817-485_817-476delTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0292 a0001c0001t0040g0292	1	362	0.0028	-10	c.954 others(25): Show c.954+222_954+231delCACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773139	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	362	0.0028	-10	c.954 others(25): Show c.954+224_954+233delCACACACATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69184916	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA21309.hp1 HG02723.hp1 NA21309.hp1	a0003 a0021 a0003 a0021	a0003c0003 a0021c0023 a0003c0003 a0021c0023	a0003c0003t0001 a0021c0023t0001 a0003c0003t0001 a0021c0023t0001	a0003c0003t0001g0127 a0021c0023t0001g0211 a0003c0003t0001g0127 a0021c0023t0001g0211	2	348	0.0058	-10	c.249 others(27): Show c.2497+551_2497+560delGTGTGTGTGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	20/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211314	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02015.hp1 HG03098.hp2 others(1): Show HG01975.hp2 HG02015.hp1 HG03098.hp2 NA18974.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0009 a0001c0001 a0004c0006 a0008c0009	a0001c0001t0002 a0004c0006t0003 a0008c0009t0009 a0001c0001t0002 a0004c0006t0003 a0008c0009t0009	a0001c0001t0002g0297 a0001c0001t0002g0298 a0004c0006t0003g0269 others(1): Show a0001c0001t0002g0297 a0001c0001t0002g0298 a0004c0006t0003g0269 a0008c0009t0009g0245	4	348	0.0115	-10	c.100 others(29): Show c.1006+3380_1006+3389delATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211352	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	348	0.0029	-10	c.100 others(29): Show c.1006+3342_1006+3351delGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214950382	ATCTGTGT others(3): Show ATCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01884.hp1 HG01891.hp1	a0001 a0003 a0001 a0003	a0001c0042 a0003c0066 a0001c0042 a0003c0066	a0001c0042t0013 a0003c0066t0004 a0001c0042t0013 a0003c0066t0004	a0001c0042t0013g0045 a0003c0066t0004g0104 a0001c0042t0013g0045 a0003c0066t0004g0104	2	198	0.0101	-10	c.685 others(27): Show c.6852+487_6852+496delCACACACAGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214950384	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG01978.hp1 others(23): Show HG00735.hp2 HG01255.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp2 HG06807.hp1 NA18906.hp1 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA19007.hp2 NA19070.hp1 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0009 a0001c0010 a0001c0021 others(12): Show a0001c0009 a0001c0010 a0001c0021 a0001c0023 a0001c0025 a0001c0040 a0001c0041 a0001c0043 a0001c0068 a0002c0007 a0002c0013 a0002c0054 a0004c0018 a0004c0061 a0014c0038	a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 others(18): Show a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0003 a0001c0010t0004 a0001c0021t0003 a0001c0023t0003 a0001c0025t0003 a0001c0025t0015 a0001c0040t0008 a0001c0041t0003 a0001c0043t0006 a0001c0068t0003 a0002c0007t0003 a0002c0007t0004 a0002c0013t0003 a0002c0013t0008 a0002c0054t0009 a0004c0018t0008 a0004c0061t0015 a0014c0038t0008	a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 others(23): Show a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0021t0003g0174 a0001c0023t0003g0024 a0001c0023t0003g0153 a0001c0025t0003g0064 a0001c0025t0015g0182 a0001c0040t0008g0186 a0001c0041t0003g0164 a0001c0043t0006g0022 a0001c0068t0003g0016 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0054t0009g0004 a0004c0018t0008g0196 a0004c0061t0015g0181 a0014c0038t0008g0195	26	198	0.1313	-10	c.685 others(27): Show c.6852+485_6852+494delCACACACACA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214950412	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0003 a0009c0026t0003	a0009c0026t0003g0053 a0009c0026t0003g0056 a0009c0026t0003g0053 a0009c0026t0003g0056	2	198	0.0101	-10	c.685 others(27): Show c.6852+457_6852+466delTACACACACA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214977329	TAAAAGTC others(3): Show TAAAAGTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	198	0.0051	-10	c.512 others(27): Show c.5128+977_5128+986delGAGGACTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	33/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02257.hp1 others(10): Show HG00423.hp2 HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG03225.hp1 NA18522.hp2 NA18906.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0014 others(4): Show a0001c0003 a0001c0004 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067	a0001c0003t0001 a0001c0004t0001 a0003c0014t0002 others(7): Show a0001c0003t0001 a0001c0004t0001 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025	a0001c0003t0001g0038 a0001c0003t0001g0147 a0001c0003t0001g0159 others(10): Show a0001c0003t0001g0038 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0004t0001g0026 a0003c0014t0002g0101 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183	13	198	0.0657	-10	c.178 others(27): Show c.1783-929_1783-920delTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215064688	TACACGCA others(3): Show TACACGCACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp2 HG02809.hp1 HG03516.hp2	a0004 a0004	a0004c0018 a0004c0059 a0004c0018 a0004c0059	a0004c0018t0005 a0004c0059t0004 a0004c0018t0005 a0004c0059t0004	a0004c0018t0005g0095 a0004c0059t0004g0071 a0004c0018t0005g0095 a0004c0059t0004g0071	2	198	0.0101	-10	c.164 others(25): Show c.164-479_164-470delGTGTGCGTGT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215064693	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00735.hp1 others(49): Show HG00423.hp2 HG00438.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp2 NA18951.hp1 NA18984.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0010 a0020	a0001c0003 a0001c0004 a0001c0006 others(20): Show a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0021 a0001c0022 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0041 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0054 a0002c0056 a0002c0058 a0007c0034 a0009c0026 a0010c0055 a0020c0036	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(30): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0004t0001 a0001c0006t0002 a0001c0006t0005 a0001c0009t0003 a0001c0010t0002 a0001c0010t0004 a0001c0010t0009 a0001c0021t0003 a0001c0021t0010 a0001c0022t0019 a0001c0031t0005 a0001c0032t0006 a0001c0033t0026 a0001c0035t0002 a0001c0041t0003 a0002c0007t0003 a0002c0007t0004 a0002c0007t0017 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0017t0009 a0002c0054t0009 a0002c0056t0004 a0002c0058t0002 a0007c0034t0005 a0009c0026t0003 a0010c0055t0010 a0020c0036t0001	a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 others(49): Show a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0122 a0001c0003t0001g0134 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0003t0001g0166 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0002g0037 a0001c0003t0006g0048 a0001c0003t0011g0120 a0001c0003t0011g0139 a0001c0004t0001g0042 a0001c0006t0002g0124 a0001c0006t0002g0135 a0001c0006t0002g0142 a0001c0006t0002g0171 a0001c0006t0005g0152 a0001c0009t0003g0157 a0001c0010t0002g0168 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0022t0019g0014 a0001c0031t0005g0158 a0001c0032t0006g0041 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0041t0003g0164 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0017g0012 a0002c0008t0007g0010 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0017t0009g0007 a0002c0054t0009g0004 a0002c0056t0004g0020 a0002c0058t0002g0072 a0007c0034t0005g0169 a0009c0026t0003g0053 a0009c0026t0003g0056 a0010c0055t0010g0184 a0020c0036t0001g0084	52	198	0.2626	-10	c.164 others(25): Show c.164-484_164-475delTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215071196	CAAATAAA others(3): Show CAAATAAAATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01243.hp2 others(14): Show HG00735.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp1 HG02293.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA20905.hp1	a0001 a0007 a0014 others(2): Show a0001 a0007 a0014 a0016 a0022	a0001c0002 a0001c0009 a0001c0011 others(8): Show a0001c0002 a0001c0009 a0001c0011 a0001c0016 a0001c0033 a0001c0035 a0001c0040 a0007c0024 a0014c0038 a0016c0039 a0022c0030	a0001c0002t0022 a0001c0009t0001 a0001c0009t0008 others(10): Show a0001c0002t0022 a0001c0009t0001 a0001c0009t0008 a0001c0009t0010 a0001c0011t0001 a0001c0016t0002 a0001c0033t0026 a0001c0035t0002 a0001c0040t0008 a0007c0024t0005 a0014c0038t0008 a0016c0039t0012 a0022c0030t0001	a0001c0002t0022g0148 a0001c0009t0001g0136 a0001c0009t0008g0188 others(14): Show a0001c0002t0022g0148 a0001c0009t0001g0136 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0040t0008g0186 a0007c0024t0005g0093 a0007c0024t0005g0094 a0014c0038t0008g0195 a0016c0039t0012g0185 a0022c0030t0001g0047	17	198	0.0859	-10	c.164 others(27): Show c.164-6987_164-6978delTATTTTATTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215112487	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0012 a0016c0039t0012	a0016c0039t0012g0185 a0016c0039t0012g0185	1	198	0.0051	-10	c.70- others(23): Show c.70-807_70-798delCAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01243.hp1 others(26): Show HG00140.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0004 a0001c0005 a0001c0011 others(17): Show a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0016 a0002c0007 a0002c0027 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0004c0018 a0004c0059 a0004c0060 a0005c0064 a0006c0019 a0007c0024 a0008c0028	a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 others(20): Show a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 a0001c0011t0005 a0001c0012t0014 a0001c0016t0002 a0002c0007t0002 a0002c0027t0003 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0065t0001 a0003c0066t0004 a0004c0018t0005 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0005c0064t0004 a0006c0019t0001 a0007c0024t0005 a0008c0028t0003	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 others(26): Show a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0011t0001g0087 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0014g0097 a0001c0016t0002g0086 a0001c0016t0002g0090 a0002c0007t0002g0105 a0002c0027t0003g0073 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0020t0001g0106 a0003c0065t0001g0103 a0003c0066t0004g0104 a0004c0018t0005g0095 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0005c0064t0004g0070 a0006c0019t0001g0100 a0007c0024t0005g0094 a0008c0028t0003g0081 a0008c0028t0003g0083	29	198	0.1465	-10	c.69+ others(25): Show c.69+4981_69+4990delAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134577	ATCTCTCT others(3): Show ATCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0008 a0004c0018t0008	a0004c0018t0008g0196 a0004c0018t0008g0196	1	198	0.0051	-10	c.69+ others(25): Show c.69+3553_69+3562delGAGAGAGAGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48219883	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA19083.hp2 HG03492.hp1 NA19083.hp2	a0017 a0078 a0017 a0078	a0017c0097 a0078c0084 a0017c0097 a0078c0084	a0017c0097t0001 a0078c0084t0002 a0017c0097t0001 a0078c0084t0002	a0017c0097t0001g0084 a0078c0084t0002g0076 a0017c0097t0001g0084 a0078c0084t0002g0076	2	178	0.0112	-10	c.439 others(25): Show c.439+420_439+429delCACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358222	AAGGGGAG others(3): Show AAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01192.hp1 others(9): Show HG00741.hp2 HG01070.hp1 HG01192.hp1 HG06807.hp2 NA18956.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18992.hp2 NA19062.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(6): Show a0001 a0004 a0006 a0007 a0011 a0016 a0042 a0044 a0054	a0001c0001 a0004c0009 a0006c0023 others(6): Show a0001c0001 a0004c0009 a0006c0023 a0007c0011 a0011c0046 a0016c0095 a0042c0113 a0044c0058 a0054c0048	a0001c0001t0001 a0004c0009t0002 a0006c0023t0003 others(6): Show a0001c0001t0001 a0004c0009t0002 a0006c0023t0003 a0007c0011t0003 a0011c0046t0002 a0016c0095t0002 a0042c0113t0003 a0044c0058t0001 a0054c0048t0004	a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 a0004c0009t0002g0166 a0006c0023t0003g0171 a0007c0011t0003g0051 a0007c0011t0003g0130 a0011c0046t0002g0089 a0016c0095t0002g0043 a0042c0113t0003g0093 a0044c0058t0001g0101 a0054c0048t0004g0159	12	178	0.0674	-10	c.106 others(31): Show c.10688+5772_10688+5781delGGGGAGGGGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358259	GGGGAGGG others(3): Show GGGGAGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19030.hp1 HG01123.hp2 NA19030.hp1	a0007 a0026 a0007 a0026	a0007c0102 a0026c0026 a0007c0102 a0026c0026	a0007c0102t0001 a0026c0026t0001 a0007c0102t0001 a0026c0026t0001	a0007c0102t0001g0020 a0026c0026t0001g0053 a0007c0102t0001g0020 a0026c0026t0001g0053	2	178	0.0112	-10	c.106 others(31): Show c.10688+5773_10688+5782delGGGAGGGGAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48368706	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02109.hp2 HG03098.hp1 others(2): Show HG01516.hp1 HG02109.hp2 HG03098.hp1 HG03492.hp2 NA18971.hp1	a0003 a0008 a0012 others(2): Show a0003 a0008 a0012 a0045 a0087	a0003c0004 a0008c0013 a0012c0045 others(2): Show a0003c0004 a0008c0013 a0012c0045 a0045c0056 a0087c0039	a0003c0004t0001 a0008c0013t0001 a0012c0045t0002 others(2): Show a0003c0004t0001 a0008c0013t0001 a0012c0045t0002 a0045c0056t0002 a0087c0039t0001	a0003c0004t0001g0033 a0008c0013t0001g0111 a0012c0045t0002g0075 others(2): Show a0003c0004t0001g0033 a0008c0013t0001g0111 a0012c0045t0002g0075 a0045c0056t0002g0019 a0087c0039t0001g0003	5	178	0.0281	-10	c.108 others(29): Show c.10803+800_10803+809delTATATATACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411039	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 HG03471.hp1 others(1): Show HG01167.hp2 HG03195.hp1 HG03471.hp1 NA18942.hp2	a0007 a0015 a0020 others(1): Show a0007 a0015 a0020 a0063	a0007c0101 a0015c0025 a0020c0109 others(1): Show a0007c0101 a0015c0025 a0020c0109 a0063c0071	a0007c0101t0003 a0015c0025t0003 a0020c0109t0001 others(1): Show a0007c0101t0003 a0015c0025t0003 a0020c0109t0001 a0063c0071t0005	a0007c0101t0003g0139 a0015c0025t0003g0024 a0020c0109t0001g0120 others(1): Show a0007c0101t0003g0139 a0015c0025t0003g0024 a0020c0109t0001g0120 a0063c0071t0005g0105	4	178	0.0225	-10	c.122 others(29): Show c.12228+374_12228+383delTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411120	CTCCTTTC others(3): Show CTCCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0043 a0043	a0043c0093 a0043c0093	a0043c0093t0002 a0043c0093t0002	a0043c0093t0002g0150 a0043c0093t0002g0150	1	178	0.0056	-10	c.122 others(29): Show c.12228+460_12228+469delCCTTTCCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48422055	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01192.hp1 others(45): Show HG00558.hp2 HG00738.hp1 HG01192.hp1 HG01433.hp1 HG01516.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA19010.hp2 NA19030.hp2 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0002 a0005 a0006 others(32): Show a0002 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015 a0019 a0021 a0022 a0025 a0028 a0029 a0032 a0034 a0036 a0040 a0042 a0049 a0058 a0060 a0061 a0063 a0064 a0068 a0071 a0073 a0075 a0076 a0077 a0078 a0080 a0082	a0002c0002 a0005c0005 a0006c0007 others(35): Show a0002c0002 a0005c0005 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0008c0032 a0010c0033 a0011c0017 a0011c0044 a0013c0006 a0015c0025 a0019c0030 a0021c0028 a0022c0020 a0025c0089 a0028c0015 a0029c0014 a0032c0114 a0034c0105 a0036c0098 a0040c0111 a0042c0113 a0049c0055 a0058c0035 a0060c0070 a0061c0074 a0063c0071 a0064c0073 a0068c0067 a0071c0038 a0073c0078 a0075c0081 a0076c0083 a0077c0082 a0078c0084 a0080c0090 a0082c0088	a0002c0002t0004 a0005c0005t0003 a0006c0007t0003 others(36): Show a0002c0002t0004 a0005c0005t0003 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0008c0032t0001 a0010c0033t0003 a0011c0017t0003 a0011c0044t0001 a0013c0006t0001 a0015c0025t0003 a0019c0030t0003 a0021c0028t0003 a0022c0020t0001 a0025c0089t0012 a0028c0015t0004 a0029c0014t0005 a0032c0114t0004 a0034c0105t0005 a0036c0098t0001 a0040c0111t0006 a0042c0113t0003 a0049c0055t0003 a0058c0035t0002 a0060c0070t0003 a0061c0074t0001 a0063c0071t0005 a0064c0073t0005 a0068c0067t0009 a0071c0038t0005 a0073c0078t0003 a0075c0081t0001 a0076c0083t0003 a0077c0082t0005 a0078c0084t0002 a0080c0090t0005 a0082c0088t0005	a0002c0002t0004g0106 a0005c0005t0003g0090 a0005c0005t0003g0102 others(45): Show a0002c0002t0004g0106 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0006c0007t0003g0121 a0006c0023t0003g0171 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0008c0032t0001g0079 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0003g0067 a0011c0044t0001g0096 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0015c0025t0003g0024 a0015c0025t0003g0025 a0019c0030t0003g0038 a0019c0030t0003g0068 a0021c0028t0003g0005 a0022c0020t0001g0007 a0025c0089t0012g0154 a0028c0015t0004g0173 a0029c0014t0005g0119 a0032c0114t0004g0082 a0034c0105t0005g0037 a0036c0098t0001g0069 a0040c0111t0006g0031 a0042c0113t0003g0093 a0049c0055t0003g0125 a0058c0035t0002g0157 a0060c0070t0003g0014 a0061c0074t0001g0022 a0063c0071t0005g0105 a0064c0073t0005g0047 a0068c0067t0009g0142 a0071c0038t0005g0135 a0073c0078t0003g0170 a0075c0081t0001g0148 a0076c0083t0003g0145 a0077c0082t0005g0146 a0078c0084t0002g0076 a0080c0090t0005g0104 a0082c0088t0005g0152	48	178	0.2697	-10	c.124 others(31): Show c.12460-5691_12460-5682delAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48497752	AAGTGAGT others(3): Show AAGTGAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01070.hp2 others(35): Show HG00408.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01169.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02132.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18971.hp1 NA18987.hp1 NA18998.hp2 NA19007.hp2 NA19030.hp2 NA19060.hp1 NA19091.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0018 a0023 a0025 a0030 a0031 a0032 a0035 a0036 a0039 a0045 a0048 a0050 a0051 a0054 a0056 a0057 a0058 a0068 a0070 a0074 a0079 a0081 a0084	a0001c0001 a0002c0002 a0002c0022 others(30): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0007c0011 a0008c0013 a0008c0032 a0009c0012 a0018c0029 a0023c0018 a0025c0085 a0030c0042 a0031c0092 a0032c0114 a0035c0106 a0036c0098 a0039c0110 a0045c0056 a0048c0041 a0050c0054 a0051c0053 a0054c0048 a0056c0050 a0057c0036 a0058c0035 a0068c0067 a0070c0064 a0074c0080 a0079c0087 a0081c0086 a0084c0061	a0001c0001t0004 a0002c0002t0004 a0002c0022t0004 others(30): Show a0001c0001t0004 a0002c0002t0004 a0002c0022t0004 a0003c0003t0004 a0003c0004t0004 a0004c0008t0004 a0007c0011t0007 a0008c0013t0001 a0008c0032t0001 a0009c0012t0002 a0018c0029t0004 a0023c0018t0004 a0025c0085t0004 a0030c0042t0004 a0031c0092t0004 a0032c0114t0004 a0035c0106t0005 a0036c0098t0001 a0039c0110t0007 a0045c0056t0002 a0048c0041t0004 a0050c0054t0002 a0051c0053t0004 a0054c0048t0004 a0056c0050t0004 a0057c0036t0007 a0058c0035t0002 a0068c0067t0009 a0070c0064t0001 a0074c0080t0013 a0079c0087t0002 a0081c0086t0009 a0084c0061t0004	a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0002t0004g0106 others(35): Show a0001c0001t0004g0057 a0001c0001t0004g0164 a0002c0002t0004g0106 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0004g0030 a0004c0008t0004g0167 a0007c0011t0007g0165 a0008c0013t0001g0111 a0008c0032t0001g0079 a0009c0012t0002g0052 a0009c0012t0002g0094 a0018c0029t0004g0070 a0023c0018t0004g0091 a0025c0085t0004g0008 a0030c0042t0004g0073 a0031c0092t0004g0095 a0032c0114t0004g0082 a0035c0106t0005g0006 a0036c0098t0001g0069 a0039c0110t0007g0126 a0045c0056t0002g0019 a0048c0041t0004g0039 a0050c0054t0002g0015 a0051c0053t0004g0122 a0054c0048t0004g0159 a0056c0050t0004g0099 a0057c0036t0007g0083 a0058c0035t0002g0157 a0068c0067t0009g0142 a0070c0064t0001g0127 a0074c0080t0013g0158 a0079c0087t0002g0153 a0081c0086t0009g0160 a0084c0061t0004g0013	38	178	0.2135	-10	c.132 others(31): Show c.13291+8409_13291+8418delAGTGAGTGGG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	48/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48525670	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp1	a0007 a0039 a0057 others(2): Show a0007 a0039 a0057 a0068 a0081	a0007c0011 a0039c0110 a0057c0036 others(2): Show a0007c0011 a0039c0110 a0057c0036 a0068c0067 a0081c0086	a0007c0011t0007 a0039c0110t0007 a0057c0036t0007 others(2): Show a0007c0011t0007 a0039c0110t0007 a0057c0036t0007 a0068c0067t0009 a0081c0086t0009	a0007c0011t0007g0165 a0039c0110t0007g0126 a0057c0036t0007g0083 others(2): Show a0007c0011t0007g0165 a0039c0110t0007g0126 a0057c0036t0007g0083 a0068c0067t0009g0142 a0081c0086t0009g0160	5	178	0.0281	-10	c.142 others(31): Show c.14244+1244_14244+1253delTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	54/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01169.hp1 others(22): Show HG00621.hp2 HG00673.hp2 HG01169.hp1 HG01496.hp1 HG02129.hp1 HG02155.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp1 NA18942.hp2 NA18960.hp1 NA18962.hp2 NA18979.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0007 a0008 a0015	a0002c0011 a0002c0037 a0004c0008 others(7): Show a0002c0011 a0002c0037 a0004c0008 a0005c0014 a0005c0026 a0005c0039 a0007c0003 a0007c0090 a0008c0006 a0015c0061	a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 others(15): Show a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 a0004c0008t0006 a0004c0008t0028 a0005c0014t0003 a0005c0026t0004 a0005c0039t0017 a0007c0003t0002 a0007c0003t0004 a0007c0003t0011 a0007c0003t0016 a0007c0003t0033 a0007c0090t0007 a0008c0006t0005 a0008c0006t0006 a0008c0006t0022 a0015c0061t0001	a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0020g0171 others(22): Show a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0020g0171 a0002c0037t0011g0116 a0004c0008t0006g0202 a0004c0008t0028g0199 a0005c0014t0003g0173 a0005c0014t0003g0243 a0005c0026t0004g0042 a0005c0039t0017g0018 a0005c0039t0017g0019 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0004g0170 a0007c0003t0011g0072 a0007c0003t0016g0029 a0007c0003t0016g0242 a0007c0003t0033g0035 a0007c0090t0007g0046 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0022g0135 a0015c0061t0001g0080	25	318	0.0786	-10	c.494 others(27): Show c.4943+415_4943+424delTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104810141	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02723.hp2 others(7): Show HG01891.hp2 HG02257.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA19030.hp1	a0002 a0004 a0002 a0004	a0002c0015 a0002c0024 a0002c0032 others(3): Show a0002c0015 a0002c0024 a0002c0032 a0004c0008 a0004c0042 a0004c0066	a0002c0015t0002 a0002c0015t0004 a0002c0024t0008 others(4): Show a0002c0015t0002 a0002c0015t0004 a0002c0024t0008 a0002c0032t0001 a0004c0008t0003 a0004c0042t0008 a0004c0066t0008	a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0024t0008g0003 others(7): Show a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0032t0001g0317 a0004c0008t0003g0289 a0004c0042t0008g0083 a0004c0042t0008g0158 a0004c0066t0008g0007	10	318	0.0315	-10	c.417 others(27): Show c.4176-587_4176-578delATATATATAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	29/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104829943	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp2 others(57): Show HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0011 a0013 a0014 a0023 a0024	a0001c0092 a0002c0015 a0002c0017 others(18): Show a0001c0092 a0002c0015 a0002c0017 a0002c0025 a0002c0037 a0002c0058 a0003c0038 a0003c0077 a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0007c0003 a0007c0090 a0011c0010 a0013c0013 a0014c0023 a0014c0053 a0014c0054 a0023c0072 a0024c0073	a0001c0092t0012 a0002c0015t0013 a0002c0017t0015 others(41): Show a0001c0092t0012 a0002c0015t0013 a0002c0017t0015 a0002c0017t0026 a0002c0025t0015 a0002c0037t0001 a0002c0058t0007 a0003c0038t0005 a0003c0077t0005 a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0007c0003t0002 a0007c0003t0003 a0007c0003t0004 a0007c0003t0006 a0007c0003t0009 a0007c0003t0011 a0007c0003t0014 a0007c0003t0016 a0007c0003t0020 a0007c0003t0033 a0007c0003t0035 a0007c0090t0007 a0011c0010t0005 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0053t0002 a0014c0054t0010 a0023c0072t0001 a0024c0073t0019	a0001c0092t0012g0220 a0002c0015t0013g0305 a0002c0015t0013g0306 others(57): Show a0001c0092t0012g0220 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0025t0015g0283 a0002c0037t0001g0275 a0002c0058t0007g0143 a0003c0038t0005g0307 a0003c0077t0005g0312 a0006c0004t0002g0132 a0006c0004t0002g0133 a0006c0004t0003g0190 a0006c0004t0004g0067 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0010g0252 a0006c0004t0011g0269 a0006c0004t0042g0265 a0006c0004t0045g0155 a0006c0012t0001g0090 a0006c0012t0001g0212 a0006c0012t0002g0028 a0006c0012t0002g0060 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0012t0010g0198 a0006c0063t0003g0151 a0006c0089t0003g0180 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0003g0014 a0007c0003t0003g0229 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0004g0170 a0007c0003t0006g0051 a0007c0003t0009g0156 a0007c0003t0009g0260 a0007c0003t0011g0072 a0007c0003t0014g0030 a0007c0003t0016g0029 a0007c0003t0020g0179 a0007c0003t0033g0035 a0007c0003t0035g0061 a0007c0090t0007g0046 a0011c0010t0005g0287 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0053t0002g0146 a0014c0054t0010g0251 a0023c0072t0001g0309 a0024c0073t0019g0231	60	318	0.1887	-10	c.189 others(27): Show c.1893-815_1893-806delGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	14/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG01255.hp2 HG01952.hp2	a0002 a0012 a0002 a0012	a0002c0025 a0012c0093 a0002c0025 a0012c0093	a0002c0025t0015 a0012c0093t0001 a0002c0025t0015 a0012c0093t0001	a0002c0025t0015g0283 a0012c0093t0001g0108 a0002c0025t0015g0283 a0012c0093t0001g0108	2	318	0.0063	-10	c.160 others(27): Show c.160+1034_160+1043delACACACACAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909607	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(73): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02896.hp2 HG02965.hp1 HG03486.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18955.hp1 NA18955.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0020 a0021 a0026 a0037	a0001c0001 a0001c0005 a0001c0108 others(28): Show a0001c0001 a0001c0005 a0001c0108 a0002c0011 a0002c0033 a0003c0002 a0003c0009 a0003c0038 a0004c0008 a0004c0029 a0004c0096 a0005c0014 a0005c0070 a0006c0004 a0006c0012 a0006c0063 a0007c0003 a0008c0047 a0009c0018 a0009c0021 a0010c0007 a0012c0040 a0012c0065 a0013c0013 a0014c0023 a0014c0053 a0016c0019 a0020c0045 a0021c0060 a0026c0111 a0037c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0052 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0108t0002 a0002c0011t0007 a0002c0011t0020 a0002c0033t0032 a0003c0002t0002 a0003c0002t0003 a0003c0002t0014 a0003c0009t0003 a0003c0009t0051 a0003c0038t0003 a0004c0008t0001 a0004c0029t0005 a0004c0096t0007 a0005c0014t0003 a0005c0014t0005 a0005c0070t0001 a0006c0004t0002 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0011 a0006c0012t0002 a0006c0063t0003 a0007c0003t0004 a0007c0003t0020 a0008c0047t0002 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0004 a0010c0007t0010 a0012c0040t0029 a0012c0065t0007 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0053t0002 a0016c0019t0018 a0020c0045t0002 a0021c0060t0001 a0026c0111t0002 a0037c0088t0034	a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 others(73): Show a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0001t0001g0203 a0001c0001t0002g0074 a0001c0001t0004g0021 a0001c0001t0007g0183 a0001c0001t0052g0318 a0001c0005t0001g0050 a0001c0005t0002g0123 a0001c0005t0002g0129 a0001c0005t0002g0192 a0001c0005t0002g0254 a0001c0005t0004g0167 a0001c0108t0002g0113 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0020g0171 a0002c0033t0032g0024 a0003c0002t0002g0040 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0014g0066 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0051g0145 a0003c0038t0003g0293 a0004c0008t0001g0036 a0004c0029t0005g0023 a0004c0096t0007g0020 a0005c0014t0003g0243 a0005c0014t0005g0245 a0005c0070t0001g0316 a0006c0004t0002g0132 a0006c0004t0004g0227 a0006c0004t0005g0206 a0006c0004t0006g0249 a0006c0004t0011g0269 a0006c0012t0002g0140 a0006c0012t0002g0226 a0006c0063t0003g0151 a0007c0003t0004g0170 a0007c0003t0020g0179 a0008c0047t0002g0244 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0018t0038g0228 a0009c0021t0004g0204 a0010c0007t0010g0139 a0012c0040t0029g0001 a0012c0065t0007g0182 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0053t0002g0146 a0016c0019t0018g0117 a0016c0019t0018g0131 a0020c0045t0002g0299 a0021c0060t0001g0078 a0026c0111t0002g0065 a0037c0088t0034g0298	76	318	0.2390	-10	c.-92 others(27): Show c.-92-5846_-92-5837delGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104930323	TCCTCCCC others(3): Show TCCTCCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(62): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02300.hp2 HG02602.hp1 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0018 a0021 a0026 a0036	a0001c0001 a0001c0005 a0001c0035 others(22): Show a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0003c0002 a0003c0009 a0004c0008 a0005c0014 a0005c0016 a0005c0026 a0006c0004 a0006c0012 a0007c0003 a0008c0006 a0008c0049 a0009c0028 a0010c0030 a0012c0040 a0013c0013 a0014c0023 a0015c0061 a0018c0080 a0021c0060 a0026c0111 a0036c0094	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0049 a0001c0005t0001 a0001c0005t0002 a0001c0005t0010 a0001c0035t0009 a0001c0097t0001 a0003c0002t0002 a0003c0002t0007 a0003c0002t0014 a0003c0002t0050 a0003c0009t0003 a0004c0008t0001 a0005c0014t0006 a0005c0016t0001 a0005c0026t0004 a0005c0026t0009 a0006c0004t0004 a0006c0012t0002 a0007c0003t0002 a0007c0003t0004 a0007c0003t0006 a0007c0003t0011 a0007c0003t0016 a0007c0003t0033 a0007c0003t0035 a0008c0006t0005 a0008c0006t0006 a0008c0006t0012 a0008c0006t0047 a0008c0049t0004 a0009c0028t0009 a0010c0030t0001 a0012c0040t0040 a0013c0013t0025 a0014c0023t0017 a0014c0023t0036 a0015c0061t0001 a0018c0080t0004 a0021c0060t0001 a0026c0111t0002 a0036c0094t0009	a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 others(62): Show a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0218 a0001c0001t0002g0074 a0001c0001t0002g0233 a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0012g0039 a0001c0001t0049g0034 a0001c0005t0001g0050 a0001c0005t0002g0031 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0010g0043 a0001c0035t0009g0071 a0001c0097t0001g0106 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0172 a0003c0002t0007g0059 a0003c0002t0014g0066 a0003c0002t0050g0068 a0003c0009t0003g0073 a0004c0008t0001g0036 a0005c0014t0006g0052 a0005c0016t0001g0049 a0005c0026t0004g0042 a0005c0026t0009g0076 a0006c0004t0004g0067 a0006c0012t0002g0028 a0006c0012t0002g0060 a0007c0003t0002g0037 a0007c0003t0002g0038 a0007c0003t0004g0027 a0007c0003t0004g0048 a0007c0003t0006g0051 a0007c0003t0011g0072 a0007c0003t0016g0029 a0007c0003t0033g0035 a0007c0003t0035g0061 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0012g0081 a0008c0006t0047g0056 a0008c0049t0004g0103 a0009c0028t0009g0092 a0009c0028t0009g0093 a0010c0030t0001g0053 a0012c0040t0040g0055 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0017g0105 a0014c0023t0036g0104 a0015c0061t0001g0080 a0018c0080t0004g0107 a0021c0060t0001g0078 a0026c0111t0002g0065 a0036c0094t0009g0079	65	318	0.2044	-10	c.-24 others(21): Show c.-2491_-2482delGGAGGGGAGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding		2169		chr9	TogoVar
ABCA1_chr9_104776006_104933155	104931680	CATTTTGG others(3): Show CATTTTGGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0052 a0005c0052	a0005c0052t0001 a0005c0052t0001	a0005c0052t0001g0281 a0005c0052t0001g0281	1	318	0.0031	-10	c.-38 others(21): Show c.-3848_-3839delCTCCCAAAAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding		3526		chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0186 a0004c0015t0001g0186	1	252	0.0040	-10	c.111 others(27): Show c.1111+783_1111+792delTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341353	GCCTCGGG others(3): Show GCCTCGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0006 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(36): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0002t0001g0141 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	39	252	0.1548	-10	c.-13 others(21): Show c.-1329_-1320delACCCCCGAGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		626		chr16	TogoVar
ABCA3_chr16_2270881_2345728	2343706	ACCCTATC others(3): Show ACCCTATCTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	252	0.0040	-10	c.-36 others(21): Show c.-3682_-3673delATAGATAGGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2979		chr16	TogoVar
ABCA4_chr1_93987834_94126148	93998713	ATTTATTT others(3): Show ATTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00733.hp2 others(44): Show HG00280.hp2 HG00544.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA18967.hp2 NA18974.hp2 NA18997.hp2 NA18998.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0017 a0019 a0022 a0024 a0028 a0029 a0038	a0001c0003 a0001c0007 a0001c0081 others(26): Show a0001c0003 a0001c0007 a0001c0081 a0001c0108 a0002c0098 a0003c0008 a0003c0015 a0003c0057 a0003c0066 a0003c0082 a0004c0011 a0004c0035 a0005c0037 a0006c0012 a0006c0054 a0006c0076 a0007c0027 a0007c0034 a0009c0079 a0010c0069 a0014c0051 a0017c0017 a0019c0089 a0019c0090 a0022c0105 a0024c0102 a0028c0074 a0029c0056 a0038c0077	a0001c0003t0001 a0001c0007t0001 a0001c0081t0002 others(26): Show a0001c0003t0001 a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 a0002c0098t0001 a0003c0008t0002 a0003c0015t0001 a0003c0057t0002 a0003c0066t0003 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0037t0001 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0007c0027t0002 a0007c0034t0002 a0009c0079t0001 a0010c0069t0001 a0014c0051t0002 a0017c0017t0001 a0019c0089t0001 a0019c0090t0003 a0022c0105t0001 a0024c0102t0001 a0028c0074t0002 a0029c0056t0003 a0038c0077t0002	a0001c0003t0001g0248 a0001c0007t0001g0037 a0001c0007t0001g0064 others(44): Show a0001c0003t0001g0248 a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0081t0002g0153 a0001c0108t0001g0008 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0005c0037t0001g0051 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0009c0079t0001g0133 a0010c0069t0001g0293 a0014c0051t0002g0013 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0089t0001g0297 a0019c0090t0003g0047 a0022c0105t0001g0124 a0024c0102t0001g0015 a0028c0074t0002g0243 a0029c0056t0003g0140 a0038c0077t0002g0177	47	306	0.1536	-10	c.648 others(27): Show c.6480-613_6480-604delATAAAATAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94091579	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02965.hp1 HG03239.hp1 others(4): Show HG01175.hp2 HG02965.hp1 HG03239.hp1 HG03490.hp1 HG04204.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0033 a0001 a0002 a0033	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0098 a0033c0062	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0098t0001 a0033c0062t0001	a0001c0001t0001g0183 a0001c0001t0001g0239 a0001c0001t0001g0256 others(4): Show a0001c0001t0001g0183 a0001c0001t0001g0239 a0001c0001t0001g0256 a0001c0003t0001g0096 a0001c0005t0001g0175 a0002c0098t0001g0276 a0033c0062t0001g0257	7	306	0.0229	-10	c.768 others(27): Show c.768+7205_768+7214delTGTGTGTGTG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116958	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02451.hp2 HG03704.hp1 others(2): Show HG02155.hp1 HG02451.hp2 HG03704.hp1 NA18967.hp1 NA18998.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0078 a0001c0001 a0003c0078	a0001c0001t0001 a0003c0078t0004 a0001c0001t0001 a0003c0078t0004	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0003c0078t0004g0264	5	306	0.0163	-10	c.67- others(25): Show c.67-3902_67-3893delGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94124148	TGTTTTTT others(3): Show TGTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG03041.hp2 HG03831.hp2 others(4): Show HG00558.hp1 HG03041.hp2 HG03831.hp2 HG04115.hp1 NA18906.hp1 NA19005.hp1 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0022	a0001c0001 a0001c0081 a0002c0002 others(3): Show a0001c0001 a0001c0081 a0002c0002 a0002c0010 a0006c0054 a0022c0105	a0001c0001t0001 a0001c0081t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0081t0002 a0002c0002t0001 a0002c0010t0001 a0006c0054t0002 a0022c0105t0001	a0001c0001t0001g0122 a0001c0001t0001g0179 a0001c0081t0002g0153 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0179 a0001c0081t0002g0153 a0002c0002t0001g0120 a0002c0010t0001g0121 a0006c0054t0002g0123 a0022c0105t0001g0124	7	306	0.0229	-10	c.-31 others(21): Show c.-3113_-3104delCAAAAAAAAC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		3001		chr1	TogoVar
ABCA5_chr17_69239311_69332133	69252979	TTAGATAC others(3): Show TTAGATACATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0177 a0002c0001t0004g0178 a0002c0001t0004g0177 a0002c0001t0004g0178	2	350	0.0057	-10	c.441 others(27): Show c.4415+584_4415+593delGATGTATCTA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	34/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69262842	CAAGAGTA others(3): Show CAAGAGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0231 a0002c0001t0002g0231	1	350	0.0029	-10	c.331 others(29): Show c.3316-1104_3316-1095delATATACTCTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69282980	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02922.hp2 HG01346.hp1 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0026 a0001c0004t0003 a0001c0004t0008 a0001c0004t0026	a0001c0004t0003g0166 a0001c0004t0008g0167 a0001c0004t0026g0165 a0001c0004t0003g0166 a0001c0004t0008g0167 a0001c0004t0026g0165	3	350	0.0086	-10	c.239 others(27): Show c.2392+963_2392+972delAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	18/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293863	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02040.hp2 others(19): Show HG00140.hp1 HG01884.hp1 HG02040.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02818.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03579.hp1 NA18906.hp1 NA18973.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0006c0009 a0001c0002 a0002c0001 a0006c0009	a0001c0002t0001 a0002c0001t0002 a0002c0001t0004 others(2): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0006c0009t0008	a0001c0002t0001g0134 a0002c0001t0002g0217 a0002c0001t0002g0225 others(18): Show a0001c0002t0001g0134 a0002c0001t0002g0217 a0002c0001t0002g0225 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0235 a0002c0001t0002g0236 a0002c0001t0002g0238 a0002c0001t0002g0314 a0002c0001t0004g0003 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0173 a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0004g0192 a0002c0001t0008g0168 a0006c0009t0008g0163 a0006c0009t0008g0164	22	350	0.0629	-10	c.149 others(27): Show c.1495+782_1495+791delGCACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69327145	GCCGCGCG others(3): Show GCCGCGCGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0021 a0003c0003t0003g0021	1	350	0.0029	-10	c.-11 others(19): Show c.-119_-110delGTGCGCGCGG	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding		13		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69142730	ACAACTAC others(3): Show ACAACTACAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03471.hp1 HG02055.hp1 HG02280.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0171 a0002c0002t0001g0023 a0002c0002t0001g0171	3	326	0.0092	-10	c.-10 others(21): Show c.-1041_-1032delGCTGTAGTTG	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		836		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911494	TGGGCCAG others(3): Show TGGGCCAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0012 a0015c0015t0001g0012	1	274	0.0037	-10	c.213 others(29): Show c.2139-3625_2139-3616delCCACTGGCCC	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0143 a0001c0005t0001g0143	1	274	0.0037	-10	c.150 others(25): Show c.1501+38_1501+47delAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68931761	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02055.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0018 a0020	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0042 a0002c0006 a0008c0039 a0018c0051 a0020c0049	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0042t0001 a0002c0006t0001 a0008c0039t0001 a0018c0051t0004 a0020c0049t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0004t0001g0128 a0001c0042t0001g0130 a0002c0006t0001g0001 a0002c0006t0001g0094 a0008c0039t0001g0154 a0018c0051t0004g0122 a0020c0049t0001g0093	15	274	0.0547	-10	c.797 others(25): Show c.797+517_797+526delAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0001 a0029c0028t0001	a0029c0028t0001g0113 a0029c0028t0001g0113	1	274	0.0037	-10	c.-5- others(25): Show c.-5-2287_-5-2278delTATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar

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