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
ABCA10_chr17_69143007_69233824	69143833	G G	GTAGATAG others(5): Show GTAGATAGATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01257.hp1 others(11): Show HG01099.hp2 HG01167.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01978.hp1 HG02074.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA19006.hp1 NA19054.hp2 NA19066.hp1 NA19081.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0015 others(2): Show a0001c0001 a0002c0002 a0002c0015 a0003c0003 a0005c0005	a0001c0001t0002 a0002c0002t0001 a0002c0015t0001 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0015t0001 a0003c0003t0001 a0005c0005t0004	a0001c0001t0002g0035 a0001c0001t0002g0081 a0001c0001t0002g0175 others(10): Show a0001c0001t0002g0035 a0001c0001t0002g0081 a0001c0001t0002g0175 a0001c0001t0002g0307 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0063 a0002c0002t0001g0114 a0002c0002t0001g0265 a0002c0015t0001g0003 a0003c0003t0001g0057 a0003c0003t0001g0103 a0005c0005t0004g0214	14	348	0.0402	12	c.49 others(23): Show c.4993_*4994insTCTATCTATCTA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		4173		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146301	T T	TATATAAT others(5): Show TATATAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0260 a0015c0030t0001g0260	1	348	0.0029	12	c.25 others(23): Show c.2525_*2526insTCCATATTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1705		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146307	T T	TATGGAAT others(5): Show TATGGAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0012 a0009c0022t0012	a0009c0022t0012g0136 a0009c0022t0012g0136	1	348	0.0029	12	c.25 others(23): Show c.2519_*2520insTATATATTCCAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1699		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162808	T T	TATATACA others(5): Show TATATACATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	348	0.0029	12	c.336 others(31): Show c.3363+1254_3363+1265dupGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(5): Show CATATACATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04115.hp1 HG02976.hp1 HG04115.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0003 a0003c0003t0001 a0004c0004t0003	a0003c0003t0001g0212 a0004c0004t0003g0141 a0003c0003t0001g0212 a0004c0004t0003g0141	2	348	0.0058	12	c.336 others(31): Show c.3363+1235_3363+1236insATATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69195554	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0014 a0025c0029t0014	a0025c0029t0014g0197 a0025c0029t0014g0197	1	348	0.0029	12	c.123 others(31): Show c.1235-1071_1235-1060dupAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	11/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69197009	A A	AGGGAGGG others(5): Show AGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01256.hp1 others(10): Show HG00323.hp1 HG00738.hp1 HG01256.hp1 HG01261.hp2 HG01516.hp1 HG02145.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG04115.hp2 HG04228.hp1 NA19240.hp2	a0003 a0005 a0015 others(1): Show a0003 a0005 a0015 a0022	a0003c0003 a0005c0013 a0005c0014 others(2): Show a0003c0003 a0005c0013 a0005c0014 a0015c0030 a0022c0024	a0003c0003t0001 a0005c0013t0001 a0005c0014t0001 others(2): Show a0003c0003t0001 a0005c0013t0001 a0005c0014t0001 a0015c0030t0001 a0022c0024t0001	a0003c0003t0001g0057 a0003c0003t0001g0088 a0003c0003t0001g0089 others(10): Show a0003c0003t0001g0057 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0094 a0003c0003t0001g0110 a0003c0003t0001g0148 a0003c0003t0001g0261 a0005c0013t0001g0039 a0005c0013t0001g0049 a0005c0014t0001g0139 a0005c0014t0001g0223 a0015c0030t0001g0260 a0022c0024t0001g0303	13	348	0.0374	12	c.123 others(27): Show c.1234+43_1234+54dupCCTCCCCCTCCC	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	11/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69200785	T T	TCACTGCA others(5): Show TCACTGCAAACTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp2 HG02630.hp2 others(1): Show HG01109.hp2 HG01361.hp2 HG02630.hp2 HG03209.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0190 others(1): Show a0006c0007t0004g0185 a0006c0007t0004g0187 a0006c0007t0004g0190 a0006c0007t0004g0191	4	348	0.0115	12	c.117 others(29): Show c.1175+703_1175+714dupGAGTTTGCAGTG	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	10/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210081	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02818.hp2 others(3): Show HG00609.hp2 HG02040.hp2 HG02818.hp2 HG03139.hp2 NA19043.hp2 NA19060.hp2	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0001 a0004c0004 a0020c0031 a0001c0001 a0004c0004 a0020c0031	a0001c0001t0002 a0004c0004t0003 a0020c0031t0001 a0001c0001t0002 a0004c0004t0003 a0020c0031t0001	a0001c0001t0002g0163 a0001c0001t0002g0177 a0004c0004t0003g0239 others(3): Show a0001c0001t0002g0163 a0001c0001t0002g0177 a0004c0004t0003g0239 a0004c0004t0003g0243 a0004c0004t0003g0247 a0020c0031t0001g0069	6	348	0.0172	12	c.100 others(31): Show c.1006+4611_1006+4622dupTAATAATAATAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0105 a0004c0004t0003g0105	1	348	0.0029	12	c.100 others(31): Show c.1006+3845_1006+3856dupATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG01257.hp2 others(9): Show HG01167.hp1 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG02698.hp1 HG02735.hp1 HG04204.hp2 HG04228.hp2 NA18945.hp2 NA18994.hp2 NA19064.hp1 NA19068.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0006t0003	a0001c0001t0002g0117 a0002c0002t0001g0114 a0002c0002t0001g0115 others(9): Show a0001c0001t0002g0117 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0123 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0118 a0004c0006t0003g0121 a0004c0006t0003g0122	12	348	0.0345	12	c.-17 others(27): Show c.-172+19_-172+30dupATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214981942	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03669.hp1 HG02895.hp1 HG02897.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0002 a0002c0017t0016 a0001c0001t0002 a0002c0017t0016	a0001c0001t0002g0119 a0002c0017t0016g0179 a0002c0017t0016g0180 a0001c0001t0002g0119 a0002c0017t0016g0179 a0002c0017t0016g0180	3	198	0.0152	12	c.457 others(29): Show c.4579+233_4579+244dupTAATAATAATAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	30/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG01255.hp2 HG02572.hp2	a0005 a0007 a0005 a0007	a0005c0063 a0007c0024 a0005c0063 a0007c0024	a0005c0063t0003 a0007c0024t0005 a0005c0063t0003 a0007c0024t0005	a0005c0063t0003g0079 a0007c0024t0005g0094 a0005c0063t0003g0079 a0007c0024t0005g0094	2	198	0.0101	12	c.382 others(29): Show c.3829+130_3829+141dupATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01943.hp2 HG01978.hp2 others(1): Show HG01070.hp1 HG01943.hp2 HG01978.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0035 a0001c0001t0002g0119 a0001c0001t0002g0170 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0119 a0001c0001t0002g0170 a0001c0004t0002g0137	4	198	0.0202	12	c.178 others(29): Show c.1783-931_1783-920dupTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215020292	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG01258.hp1 others(27): Show HG01074.hp2 HG01123.hp2 HG01258.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0005 a0001c0010 a0001c0011 others(13): Show a0001c0005 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0068 a0002c0007 a0002c0027 a0002c0056 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0007c0024	a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 others(20): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0010t0003 a0001c0011t0001 a0001c0011t0005 a0001c0012t0014 a0001c0016t0002 a0001c0016t0005 a0001c0068t0003 a0002c0007t0003 a0002c0027t0003 a0002c0056t0004 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0007c0024t0005	a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 others(27): Show a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0010t0003g0143 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0126 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0014g0015 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0068t0003g0016 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0027t0003g0074 a0002c0056t0004g0020 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0007c0024t0005g0093	30	198	0.1515	12	c.128 others(29): Show c.1288-508_1288-497dupTGTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	11/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215051609	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00741.hp1 others(28): Show HG00140.hp1 HG00423.hp1 HG00741.hp1 HG01106.hp2 HG01517.hp2 HG01891.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 NA18951.hp2 NA18962.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp2	a0001 a0012 a0015 others(1): Show a0001 a0012 a0015 a0017	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0023 a0001c0025 a0001c0044 a0001c0068 a0012c0052 a0015c0045 a0017c0046	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(14): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0005t0001 a0001c0010t0002 a0001c0010t0004 a0001c0023t0003 a0001c0025t0003 a0001c0044t0004 a0001c0068t0003 a0012c0052t0001 a0015c0045t0002 a0017c0046t0001	a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0121 others(28): Show a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0012g0191 a0001c0001t0013g0040 a0001c0001t0020g0155 a0001c0002t0001g0028 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0151 a0001c0004t0001g0029 a0001c0004t0001g0042 a0001c0004t0001g0054 a0001c0004t0001g0133 a0001c0004t0010g0198 a0001c0005t0001g0125 a0001c0010t0002g0168 a0001c0010t0004g0113 a0001c0023t0003g0153 a0001c0025t0003g0064 a0001c0044t0004g0067 a0001c0068t0003g0016 a0012c0052t0001g0128 a0015c0045t0002g0162 a0017c0046t0001g0046	31	198	0.1566	12	c.507 others(27): Show c.507+866_507+877dupACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	5/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215086919	T T	TTCATTAT others(5): Show TTCATTATTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(2): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02818.hp1	a0003 a0003	a0003c0014 a0003c0066 a0003c0014 a0003c0066	a0003c0014t0002 a0003c0014t0006 a0003c0066t0004 a0003c0014t0002 a0003c0014t0006 a0003c0066t0004	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(2): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0066t0004g0104	5	198	0.0253	12	c.164 others(31): Show c.164-22701_164-22700insTAATAATAATGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215086919	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02922.hp1 others(3): Show HG01884.hp1 HG02257.hp2 HG02922.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0015 a0001c0042 a0001c0012 a0001c0015 a0001c0042	a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 others(1): Show a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 a0001c0042t0013	a0001c0012t0004g0039 a0001c0012t0014g0015 a0001c0012t0014g0097 others(3): Show a0001c0012t0004g0039 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0042t0013g0045	6	198	0.0303	12	c.164 others(31): Show c.164-22712_164-22701dupTAATAATAATAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215087487	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA18522.hp2 NA18906.hp2	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0014 a0003c0020 a0003c0065 others(4): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0006c0019	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(7): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0006c0019t0001	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0107 others(10): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0018t0005g0095 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100	13	198	0.0657	12	c.164 others(31): Show c.164-23280_164-23269dupACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48187017	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA20129.hp2 NA18942.hp2 NA20129.hp2	a0007 a0088 a0007 a0088	a0007c0101 a0088c0037 a0007c0101 a0088c0037	a0007c0101t0003 a0088c0037t0005 a0007c0101t0003 a0088c0037t0005	a0007c0101t0003g0139 a0088c0037t0005g0092 a0007c0101t0003g0139 a0088c0037t0005g0092	2	178	0.0112	12	c.70- others(27): Show c.70-5941_70-5940insATATATATATAT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225109	G G	GTGCCTGC others(5): Show GTGCCTGCCTGCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	178	0.0056	12	c.469 others(29): Show c.469-2135_469-2124dupGCCTGCCTGCCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225109	G G	GTGCGTGC others(5): Show GTGCGTGCCTGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0061 a0061	a0061c0074 a0061c0074	a0061c0074t0001 a0061c0074t0001	a0061c0074t0001g0022 a0061c0074t0001g0022	1	178	0.0056	12	c.469 others(29): Show c.469-2150_469-2149insGTGCCTGCCTGC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225115	G G	GCCTGCCT others(5): Show GCCTGCCTGCCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01167.hp2 others(19): Show HG00408.hp2 HG00558.hp2 HG01167.hp2 HG01243.hp2 HG01952.hp2 HG02083.hp2 HG02258.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02897.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp1 NA18959.hp1 NA18971.hp1 NA18979.hp2 NA18994.hp2 NA19011.hp1 NA19062.hp2 NA20905.hp1	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0012 a0020 a0022 a0023 a0029 a0038 a0039 a0040 a0041 a0049 a0051 a0065 a0080	a0001c0001 a0002c0022 a0004c0009 others(18): Show a0001c0001 a0002c0022 a0004c0009 a0006c0007 a0008c0013 a0009c0107 a0010c0031 a0012c0016 a0020c0034 a0020c0109 a0022c0020 a0023c0018 a0029c0014 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0049c0055 a0051c0053 a0065c0091 a0080c0090	a0001c0001t0006 a0002c0022t0002 a0004c0009t0001 others(18): Show a0001c0001t0006 a0002c0022t0002 a0004c0009t0001 a0006c0007t0003 a0008c0013t0001 a0009c0107t0001 a0010c0031t0003 a0012c0016t0001 a0020c0034t0003 a0020c0109t0001 a0022c0020t0005 a0023c0018t0001 a0029c0014t0005 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0049c0055t0003 a0051c0053t0004 a0065c0091t0001 a0080c0090t0005	a0001c0001t0006g0178 a0002c0022t0002g0124 a0004c0009t0001g0116 others(19): Show a0001c0001t0006g0178 a0002c0022t0002g0124 a0004c0009t0001g0116 a0006c0007t0003g0121 a0008c0013t0001g0111 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0012c0016t0001g0108 a0020c0034t0003g0117 a0020c0109t0001g0120 a0022c0020t0005g0123 a0023c0018t0001g0110 a0029c0014t0005g0119 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0049c0055t0003g0125 a0051c0053t0004g0122 a0065c0091t0001g0109 a0080c0090t0005g0104	22	178	0.1236	12	c.469 others(29): Show c.469-2136_469-2135insACCTGCCTGCCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48225135	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01123.hp2 others(21): Show HG00544.hp1 HG00558.hp1 HG01123.hp2 HG01243.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02615.hp1 HG02630.hp1 HG02897.hp2 HG03098.hp2 HG03492.hp1 HG03654.hp2 HG03834.hp2 HG04204.hp1 NA18944.hp1 NA18959.hp2 NA18998.hp1 NA19007.hp1 NA19074.hp1	a0001 a0008 a0010 others(17): Show a0001 a0008 a0010 a0011 a0013 a0014 a0017 a0018 a0019 a0026 a0030 a0032 a0040 a0064 a0066 a0067 a0072 a0077 a0078 a0083	a0001c0001 a0001c0010 a0008c0032 others(18): Show a0001c0001 a0001c0010 a0008c0032 a0010c0033 a0011c0017 a0013c0006 a0014c0019 a0017c0096 a0018c0029 a0019c0030 a0026c0026 a0030c0042 a0032c0114 a0040c0111 a0064c0073 a0066c0062 a0067c0068 a0072c0069 a0077c0082 a0078c0084 a0083c0077	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0001 a0008c0032t0001 a0008c0032t0002 a0010c0033t0003 a0011c0017t0002 a0013c0006t0001 a0014c0019t0002 a0017c0096t0001 a0018c0029t0001 a0019c0030t0003 a0026c0026t0001 a0030c0042t0004 a0032c0114t0004 a0040c0111t0006 a0064c0073t0005 a0066c0062t0003 a0067c0068t0002 a0072c0069t0001 a0077c0082t0005 a0078c0084t0002 a0083c0077t0003	a0001c0001t0001g0063 a0001c0001t0002g0054 a0001c0001t0004g0057 others(21): Show a0001c0001t0001g0063 a0001c0001t0002g0054 a0001c0001t0004g0057 a0001c0010t0001g0066 a0008c0032t0001g0079 a0008c0032t0002g0055 a0010c0033t0003g0071 a0011c0017t0002g0048 a0013c0006t0001g0016 a0014c0019t0002g0175 a0017c0096t0001g0049 a0018c0029t0001g0134 a0019c0030t0003g0068 a0026c0026t0001g0053 a0030c0042t0004g0073 a0032c0114t0004g0082 a0040c0111t0006g0031 a0064c0073t0005g0047 a0066c0062t0003g0141 a0067c0068t0002g0061 a0072c0069t0001g0144 a0077c0082t0005g0146 a0078c0084t0002g0076 a0083c0077t0003g0046	24	178	0.1348	12	c.469 others(29): Show c.469-2081_469-2070dupCTTCCTTCCTTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp1 HG02145.hp1 others(11): Show HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03486.hp2 NA18906.hp2 NA18953.hp2 NA19030.hp1	a0001 a0007 a0009 others(10): Show a0001 a0007 a0009 a0019 a0028 a0029 a0036 a0040 a0045 a0049 a0070 a0076 a0086	a0001c0001 a0007c0102 a0009c0012 others(10): Show a0001c0001 a0007c0102 a0009c0012 a0019c0030 a0028c0015 a0029c0014 a0036c0098 a0040c0111 a0045c0056 a0049c0055 a0070c0064 a0076c0083 a0086c0059	a0001c0001t0002 a0007c0102t0001 a0009c0012t0002 others(10): Show a0001c0001t0002 a0007c0102t0001 a0009c0012t0002 a0019c0030t0003 a0028c0015t0004 a0029c0014t0010 a0036c0098t0001 a0040c0111t0006 a0045c0056t0002 a0049c0055t0003 a0070c0064t0001 a0076c0083t0003 a0086c0059t0003	a0001c0001t0002g0085 a0007c0102t0001g0020 a0009c0012t0002g0072 others(11): Show a0001c0001t0002g0085 a0007c0102t0001g0020 a0009c0012t0002g0072 a0019c0030t0003g0068 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0010g0174 a0036c0098t0001g0069 a0040c0111t0006g0031 a0045c0056t0002g0019 a0049c0055t0003g0125 a0070c0064t0001g0127 a0076c0083t0003g0145 a0086c0059t0003g0172	14	178	0.0787	12	c.764 others(29): Show c.764-1865_764-1854dupTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48261610	T T	TTTAAAAT others(5): Show TTTAAAATACTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	12	c.200 others(31): Show c.2006-7368_2006-7367insAAAATACTTCTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	15/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48309033	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp2 HG03139.hp2 others(7): Show HG01192.hp2 HG02630.hp2 HG03139.hp2 HG03669.hp1 NA18906.hp1 NA18942.hp1 NA18991.hp2 NA19030.hp1 NA19060.hp2 NA19062.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0010 a0035 a0039	a0001c0001 a0001c0010 a0001c0103 others(5): Show a0001c0001 a0001c0010 a0001c0103 a0003c0004 a0007c0102 a0010c0031 a0035c0106 a0039c0110	a0001c0001t0001 a0001c0010t0002 a0001c0103t0006 others(6): Show a0001c0001t0001 a0001c0010t0002 a0001c0103t0006 a0003c0004t0002 a0003c0004t0004 a0007c0102t0001 a0010c0031t0003 a0035c0106t0005 a0039c0110t0007	a0001c0001t0001g0004 a0001c0010t0002g0074 a0001c0103t0006g0059 others(7): Show a0001c0001t0001g0004 a0001c0010t0002g0074 a0001c0103t0006g0059 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0007c0102t0001g0020 a0010c0031t0003g0118 a0035c0106t0005g0006 a0039c0110t0007g0126	10	178	0.0562	12	c.932 others(29): Show c.9322-893_9322-882dupCACACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	23/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48330485	G G	GTCCGTCC others(5): Show GTCCGTCCATCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0001 a0022c0020t0001	a0022c0020t0001g0007 a0022c0020t0001g0007	1	178	0.0056	12	c.100 others(33): Show c.10000-4934_10000-4933insGTCCATCCATCC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	27/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48330737	A A	ACATCCAT others(5): Show ACATCCATCCATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01167.hp2 HG02132.hp2 others(2): Show HG00408.hp1 HG01167.hp2 HG02132.hp2 HG03041.hp2 NA19091.hp1	a0014 a0020 a0021 others(2): Show a0014 a0020 a0021 a0032 a0084	a0014c0047 a0020c0109 a0021c0028 others(2): Show a0014c0047 a0020c0109 a0021c0028 a0032c0114 a0084c0061	a0014c0047t0001 a0020c0109t0001 a0021c0028t0003 others(2): Show a0014c0047t0001 a0020c0109t0001 a0021c0028t0003 a0032c0114t0004 a0084c0061t0004	a0014c0047t0001g0155 a0020c0109t0001g0120 a0021c0028t0003g0005 others(2): Show a0014c0047t0001g0155 a0020c0109t0001g0120 a0021c0028t0003g0005 a0032c0114t0004g0082 a0084c0061t0004g0013	5	178	0.0281	12	c.100 others(33): Show c.10000-4652_10000-4641dupCATCCATCCATC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	27/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01975.hp2 HG01993.hp1 others(9): Show HG01167.hp2 HG01975.hp2 HG01993.hp1 HG02886.hp2 HG03098.hp1 HG03492.hp1 NA18944.hp1 NA18959.hp1 NA18961.hp1 NA19062.hp2 NA20129.hp2 NA20905.hp2	a0001 a0008 a0010 others(9): Show a0001 a0008 a0010 a0012 a0020 a0031 a0037 a0038 a0045 a0055 a0078 a0088	a0001c0010 a0008c0013 a0010c0031 others(9): Show a0001c0010 a0008c0013 a0010c0031 a0012c0043 a0020c0109 a0031c0092 a0037c0100 a0038c0108 a0045c0056 a0055c0049 a0078c0084 a0088c0037	a0001c0010t0001 a0008c0013t0005 a0010c0031t0003 others(9): Show a0001c0010t0001 a0008c0013t0005 a0010c0031t0003 a0012c0043t0002 a0020c0109t0001 a0031c0092t0004 a0037c0100t0001 a0038c0108t0001 a0045c0056t0002 a0055c0049t0001 a0078c0084t0002 a0088c0037t0005	a0001c0010t0001g0066 a0008c0013t0005g0045 a0010c0031t0003g0118 others(9): Show a0001c0010t0001g0066 a0008c0013t0005g0045 a0010c0031t0003g0118 a0012c0043t0002g0098 a0020c0109t0001g0120 a0031c0092t0004g0095 a0037c0100t0001g0041 a0038c0108t0001g0113 a0045c0056t0002g0019 a0055c0049t0001g0086 a0078c0084t0002g0076 a0088c0037t0005g0092	12	178	0.0674	12	c.118 others(33): Show c.11874-1918_11874-1907dupACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48410977	C C	CTCTCTCT others(5): Show CTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0028 a0028	a0028c0015 a0028c0015	a0028c0015t0004 a0028c0015t0004	a0028c0015t0004g0176 a0028c0015t0004g0176	1	178	0.0056	12	c.122 others(31): Show c.12228+303_12228+304insCTCTTTCTTTCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48410977	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp2 NA18994.hp1 HG00544.hp2 HG02071.hp2 NA18994.hp1	a0001 a0002 a0053 a0001 a0002 a0053	a0001c0001 a0002c0002 a0053c0051 a0001c0001 a0002c0002 a0053c0051	a0001c0001t0001 a0002c0002t0001 a0053c0051t0001 a0001c0001t0001 a0002c0002t0001 a0053c0051t0001	a0001c0001t0001g0027 a0002c0002t0001g0131 a0053c0051t0001g0026 a0001c0001t0001g0027 a0002c0002t0001g0131 a0053c0051t0001g0026	3	178	0.0169	12	c.122 others(31): Show c.12228+362_12228+373dupCTTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411049	T T	TTCTTTCT others(5): Show TTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0047 a0047	a0047c0040 a0047c0040	a0047c0040t0001 a0047c0040t0001	a0047c0040t0001g0009 a0047c0040t0001g0009	1	178	0.0056	12	c.122 others(31): Show c.12228+373_12228+374insCTTTCTTTTTCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48478310	T T	TATATATA others(5): Show TATATATATATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18944.hp2 NA18961.hp1 others(10): Show HG01192.hp1 NA18944.hp2 NA18961.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19074.hp2 NA19083.hp1	a0005 a0006 a0007 others(5): Show a0005 a0006 a0007 a0010 a0019 a0037 a0042 a0066	a0005c0005 a0006c0007 a0006c0023 others(6): Show a0005c0005 a0006c0007 a0006c0023 a0007c0011 a0010c0031 a0019c0030 a0037c0100 a0042c0113 a0066c0062	a0005c0005t0003 a0006c0007t0003 a0006c0023t0003 others(6): Show a0005c0005t0003 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0010c0031t0003 a0019c0030t0003 a0037c0100t0001 a0042c0113t0003 a0066c0062t0003	a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 others(10): Show a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0051 a0007c0011t0003g0130 a0010c0031t0003g0115 a0019c0030t0003g0038 a0037c0100t0001g0041 a0042c0113t0003g0093 a0066c0062t0003g0141	13	178	0.0730	12	c.129 others(33): Show c.12976-2725_12976-2724insTATATATATAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	45/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633919	G G	GATAGATA others(5): Show GATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01167.hp1 others(11): Show HG00408.hp2 HG01070.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01981.hp2 HG02145.hp2 HG02717.hp1 HG02976.hp2 HG03041.hp2 HG03654.hp2 HG06807.hp2 NA19043.hp2 NA19091.hp2	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0008 a0014 a0015 a0016 a0018 a0028 a0054 a0065	a0002c0002 a0002c0022 a0003c0003 others(9): Show a0002c0002 a0002c0022 a0003c0003 a0004c0008 a0008c0032 a0014c0047 a0015c0076 a0016c0095 a0018c0029 a0028c0015 a0054c0048 a0065c0091	a0002c0002t0002 a0002c0022t0002 a0003c0003t0004 others(9): Show a0002c0002t0002 a0002c0022t0002 a0003c0003t0004 a0004c0008t0004 a0008c0032t0002 a0014c0047t0001 a0015c0076t0001 a0016c0095t0002 a0018c0029t0004 a0028c0015t0004 a0054c0048t0004 a0065c0091t0001	a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0022t0002g0124 others(11): Show a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0022t0002g0124 a0003c0003t0004g0029 a0004c0008t0004g0167 a0008c0032t0002g0055 a0014c0047t0001g0155 a0015c0076t0001g0021 a0016c0095t0002g0043 a0018c0029t0004g0070 a0028c0015t0004g0173 a0028c0015t0004g0176 a0054c0048t0004g0159 a0065c0091t0001g0109	14	178	0.0787	12	c.148 others(33): Show c.14838-9357_14838-9346dupCATAGATAGATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48633935	G G	GATAGATA others(5): Show GATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0039 a0039	a0039c0110 a0039c0110	a0039c0110t0007 a0039c0110t0007	a0039c0110t0007g0126 a0039c0110t0007g0126	1	178	0.0056	12	c.148 others(33): Show c.14838-9342_14838-9341insCATAGATAGATA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0060 a0060	a0060c0070 a0060c0070	a0060c0070t0003 a0060c0070t0003	a0060c0070t0003g0014 a0060c0070t0003g0014	1	178	0.0056	12	c.148 others(33): Show c.14838-5893_14838-5882dupAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02027.hp1 others(4): Show HG01255.hp2 HG01891.hp2 HG02027.hp1 HG02698.hp1 HG04204.hp2 NA18953.hp2 NA19060.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0030	a0001c0109 a0002c0011 a0002c0025 others(3): Show a0001c0109 a0002c0011 a0002c0025 a0004c0042 a0008c0006 a0030c0100	a0001c0109t0001 a0002c0011t0007 a0002c0025t0015 others(3): Show a0001c0109t0001 a0002c0011t0007 a0002c0025t0015 a0004c0042t0008 a0008c0006t0012 a0030c0100t0009	a0001c0109t0001g0232 a0002c0011t0007g0119 a0002c0011t0007g0247 others(4): Show a0001c0109t0001g0232 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0025t0015g0283 a0004c0042t0008g0158 a0008c0006t0012g0081 a0030c0100t0009g0268	7	318	0.0220	12	c.494 others(29): Show c.4943+413_4943+424dupTGTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104850119	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0069 a0003c0002t0002g0069	1	318	0.0031	12	c.721 others(29): Show c.721-4562_721-4551dupCAAACAAACAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104865515	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG01243.hp2 HG02486.hp1	a0018 a0023 a0018 a0023	a0018c0080 a0023c0072 a0018c0080 a0023c0072	a0018c0080t0004 a0023c0072t0001 a0018c0080t0004 a0023c0072t0001	a0018c0080t0004g0107 a0023c0072t0001g0309 a0018c0080t0004g0107 a0023c0072t0001g0309	2	318	0.0063	12	c.422 others(29): Show c.422-3727_422-3716dupTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0017 a0005c0039t0017	a0005c0039t0017g0018 a0005c0039t0017g0019 a0005c0039t0017g0018 a0005c0039t0017g0019	2	318	0.0063	12	c.421 others(28): Show c.421+999_421+1010dupTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	G G	GGTGGGTG others(5): Show GGTGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02486.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2	a0002 a0008 a0002 a0008	a0002c0024 a0002c0031 a0008c0069 a0002c0024 a0002c0031 a0008c0069	a0002c0024t0008 a0002c0031t0001 a0008c0069t0008 a0002c0024t0008 a0002c0031t0001 a0008c0069t0008	a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0031t0001g0278 others(1): Show a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0031t0001g0278 a0008c0069t0008g0096	4	318	0.0126	12	c.160 others(29): Show c.160+1043_160+1044insACACACACCCAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909654	A A	ACACACAT others(5): Show ACACACATACACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0018 a0018	a0018c0080 a0018c0080	a0018c0080t0004 a0018c0080t0004	a0018c0080t0004g0107 a0018c0080t0004g0107	1	318	0.0031	12	c.-92 others(29): Show c.-92-5884_-92-5883insCGTGTATGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2289961	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0190 a0001c0003t0002g0218 a0001c0003t0002g0190 a0001c0003t0002g0218	2	252	0.0079	12	c.251 others(29): Show c.2514-353_2514-342dupTGTGTGTGTGTG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94019019	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG06807.hp1 HG02970.hp1 HG03139.hp2 HG06807.hp1	a0009 a0021 a0029 a0009 a0021 a0029	a0009c0018 a0021c0104 a0029c0056 a0009c0018 a0021c0104 a0029c0056	a0009c0018t0001 a0021c0104t0001 a0029c0056t0003 a0009c0018t0001 a0021c0104t0001 a0029c0056t0003	a0009c0018t0001g0007 a0021c0104t0001g0129 a0029c0056t0003g0140 a0009c0018t0001g0007 a0021c0104t0001g0129 a0029c0056t0003g0140	3	306	0.0098	12	c.519 others(29): Show c.5196+551_5196+562dupAAAAAAAAAAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	36/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94044100	T T	TCTCCCCT others(5): Show TCTCCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0040 a0040	a0040c0087 a0040c0087	a0040c0087t0001 a0040c0087t0001	a0040c0087t0001g0192 a0040c0087t0001g0192	1	306	0.0033	12	c.305 others(29): Show c.3050+512_3050+513insGAGGGAGGGGAG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94109162	A A	ATTTTACT others(5): Show ATTTTACTTCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(67): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18997.hp1 NA18998.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0017 a0019 a0025 a0026 a0027 a0036 a0037 a0040 a0048 a0049	a0001c0001 a0001c0003 a0001c0004 others(33): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0055 a0001c0084 a0002c0002 a0002c0010 a0002c0028 a0002c0029 a0003c0008 a0003c0057 a0003c0066 a0003c0068 a0003c0072 a0003c0075 a0003c0082 a0006c0012 a0006c0053 a0008c0014 a0009c0018 a0010c0023 a0017c0017 a0019c0089 a0019c0090 a0025c0101 a0026c0100 a0027c0049 a0036c0071 a0037c0058 a0040c0087 a0048c0038 a0049c0106	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(33): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001 a0001c0055t0005 a0001c0084t0001 a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 a0002c0029t0001 a0003c0008t0002 a0003c0057t0002 a0003c0066t0003 a0003c0068t0001 a0003c0072t0001 a0003c0075t0001 a0003c0082t0002 a0006c0012t0001 a0006c0053t0001 a0008c0014t0001 a0009c0018t0001 a0010c0023t0001 a0017c0017t0001 a0019c0089t0001 a0019c0090t0003 a0025c0101t0001 a0026c0100t0001 a0027c0049t0001 a0036c0071t0003 a0037c0058t0001 a0040c0087t0001 a0048c0038t0001 a0049c0106t0001	a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0132 others(67): Show a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0229 a0001c0004t0001g0193 a0001c0004t0001g0217 a0001c0005t0001g0030 a0001c0005t0001g0231 a0001c0006t0001g0039 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0013t0001g0197 a0001c0055t0005g0302 a0001c0084t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0210 a0002c0010t0001g0121 a0002c0028t0001g0029 a0002c0028t0001g0031 a0002c0029t0001g0237 a0002c0029t0001g0241 a0003c0008t0002g0065 a0003c0008t0002g0245 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0068t0001g0108 a0003c0072t0001g0049 a0003c0075t0001g0090 a0003c0082t0002g0215 a0006c0012t0001g0035 a0006c0053t0001g0296 a0008c0014t0001g0045 a0009c0018t0001g0007 a0010c0023t0001g0212 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0089t0001g0297 a0019c0090t0003g0047 a0025c0101t0001g0014 a0026c0100t0001g0288 a0027c0049t0001g0240 a0036c0071t0003g0048 a0037c0058t0001g0088 a0040c0087t0001g0192 a0048c0038t0001g0199 a0049c0106t0001g0205	70	306	0.2288	12	c.303 others(27): Show c.303-458_303-447dupAAGGAAGTAAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	3/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116966	T T	TTGTCTTT others(5): Show TTGTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02965.hp1 NA19005.hp2 others(1): Show HG02155.hp2 HG02965.hp1 NA19005.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0098 a0001c0001 a0001c0003 a0002c0098	a0001c0001t0001 a0001c0003t0001 a0002c0098t0001 a0001c0001t0001 a0001c0003t0001 a0002c0098t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0003t0001g0277 others(1): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0003t0001g0277 a0002c0098t0001g0276	4	306	0.0131	12	c.67- others(27): Show c.67-3901_67-3900insGAAAGAAAGACA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116968	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(16): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01433.hp2 HG02080.hp2 HG02723.hp2 HG03139.hp2 HG03195.hp1 HG03669.hp1 HG03710.hp2 NA18947.hp1 NA18962.hp2 NA18997.hp2 NA19065.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0008 a0011 a0013 a0021 a0028	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0008 a0003c0031 a0007c0027 a0007c0034 a0008c0014 a0011c0021 a0013c0048 a0021c0104 a0028c0074	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0002c0002t0001 a0003c0008t0002 a0003c0031t0004 a0007c0027t0002 a0007c0034t0002 a0008c0014t0001 a0011c0021t0001 a0013c0048t0001 a0021c0104t0001 a0028c0074t0002	a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0003t0001g0040 others(15): Show a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0003t0001g0040 a0001c0006t0001g0039 a0002c0002t0001g0001 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0003c0008t0002g0245 a0003c0031t0004g0130 a0007c0027t0002g0042 a0007c0034t0002g0131 a0008c0014t0001g0045 a0011c0021t0001g0244 a0013c0048t0001g0024 a0021c0104t0001g0129 a0028c0074t0002g0243	19	306	0.0621	12	c.67- others(27): Show c.67-3914_67-3903dupAAGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03831.hp1 NA20752.hp2 others(1): Show HG02486.hp1 HG03831.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0012 a0002 a0012	a0002c0001 a0012c0020 a0002c0001 a0012c0020	a0002c0001t0004 a0002c0001t0022 a0012c0020t0004 a0002c0001t0004 a0002c0001t0022 a0012c0020t0004	a0002c0001t0004g0183 a0002c0001t0004g0185 a0002c0001t0022g0188 others(1): Show a0002c0001t0004g0183 a0002c0001t0004g0185 a0002c0001t0022g0188 a0012c0020t0004g0181	4	350	0.0114	12	c.331 others(31): Show c.3315+1026_3315+1037dupAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar

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