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	8711722	G G	GGATGATG others(7): Show GGATGATGATTGGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(166): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0011 others(8): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0001c0022 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0011t0001 a0001c0011t0002 a0001c0013t0002 a0001c0022t0002 a0001c0023t0024 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0017 a0002c0002t0027 a0002c0002t0029 a0002c0002t0032 a0002c0002t0038 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0015 a0002c0005t0016 a0002c0006t0001 a0002c0006t0002 a0005c0019t0002	a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0081 others(166): Show a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0116 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0216 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0278 a0001c0001t0003g0077 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0171 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0004g0080 a0001c0001t0004g0096 a0001c0001t0004g0117 a0001c0001t0004g0273 a0001c0001t0005g0051 a0001c0001t0005g0063 a0001c0001t0005g0127 a0001c0001t0009g0284 a0001c0001t0012g0251 a0001c0001t0022g0037 a0001c0001t0025g0264 a0001c0001t0028g0061 a0001c0001t0039g0101 a0001c0001t0042g0087 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0097 a0001c0003t0001g0240 a0001c0003t0001g0252 a0001c0003t0002g0060 a0001c0003t0002g0179 a0001c0003t0002g0189 a0001c0003t0002g0249 a0001c0003t0003g0064 a0001c0003t0003g0083 a0001c0003t0003g0088 a0001c0003t0003g0100 a0001c0003t0003g0107 a0001c0003t0003g0114 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0126 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0147 a0001c0003t0003g0155 a0001c0003t0003g0165 a0001c0003t0003g0167 a0001c0003t0003g0175 a0001c0003t0003g0187 a0001c0003t0003g0224 a0001c0003t0003g0263 a0001c0003t0003g0267 a0001c0003t0003g0304 a0001c0003t0004g0103 a0001c0003t0004g0123 a0001c0003t0004g0279 a0001c0003t0015g0130 a0001c0003t0035g0266 a0001c0003t0036g0158 a0001c0003t0044g0261 a0001c0011t0001g0206 a0001c0011t0002g0205 a0001c0013t0002g0203 a0001c0013t0002g0204 a0001c0022t0002g0262 a0001c0023t0024g0281 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0140 a0002c0002t0001g0170 a0002c0002t0001g0209 a0002c0002t0002g0018 a0002c0002t0002g0073 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0003g0094 a0002c0002t0004g0074 a0002c0002t0004g0079 a0002c0002t0006g0169 a0002c0002t0008g0106 a0002c0002t0008g0168 a0002c0002t0009g0086 a0002c0002t0009g0192 a0002c0002t0009g0193 a0002c0002t0017g0188 a0002c0002t0027g0178 a0002c0002t0029g0208 a0002c0002t0032g0157 a0002c0002t0038g0166 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0223 a0002c0004t0001g0265 a0002c0004t0001g0282 a0002c0004t0002g0174 a0002c0004t0002g0315 a0002c0004t0003g0032 a0002c0004t0003g0068 a0002c0004t0003g0082 a0002c0004t0003g0172 a0002c0004t0003g0181 a0002c0004t0003g0198 a0002c0004t0004g0115 a0002c0004t0008g0176 a0002c0005t0001g0062 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0222 a0002c0005t0001g0225 a0002c0005t0003g0075 a0002c0005t0003g0132 a0002c0005t0003g0180 a0002c0005t0003g0207 a0002c0005t0004g0186 a0002c0005t0004g0194 a0002c0005t0004g0268 a0002c0005t0015g0084 a0002c0005t0016g0072 a0002c0006t0001g0124 a0002c0006t0001g0183 a0002c0006t0001g0199 a0002c0006t0002g0104 a0002c0006t0002g0118 a0002c0006t0002g0161 a0005c0019t0002g0164	169	362	0.4669	14	c.-41 others(33): Show c.-41-23976_-41-23975insATGATGATTGGATG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723809	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG03688.hp2 others(1): Show HG02145.hp2 HG02630.hp2 HG03688.hp2 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0007 a0001c0003 a0002c0004 a0002c0007	a0001c0003t0003 a0002c0004t0003 a0002c0004t0007 others(1): Show a0001c0003t0003 a0002c0004t0003 a0002c0004t0007 a0002c0007t0013	a0001c0003t0003g0355 a0002c0004t0003g0181 a0002c0004t0007g0347 others(1): Show a0001c0003t0003g0355 a0002c0004t0003g0181 a0002c0004t0007g0347 a0002c0007t0013g0027	4	362	0.0111	14	c.-41 others(33): Show c.-41-11884_-41-11871dupATATATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723827	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0244 a0002c0002t0006g0244	1	362	0.0028	14	c.-41 others(33): Show c.-41-11871_-41-11870insATATATATATATTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02602.hp2 HG04204.hp1 others(1): Show HG01993.hp2 HG02602.hp2 HG04204.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0006 a0002c0002 a0002c0005 a0002c0006	a0002c0002t0002 a0002c0005t0004 a0002c0006t0001 a0002c0002t0002 a0002c0005t0004 a0002c0006t0001	a0002c0002t0002g0358 a0002c0005t0004g0190 a0002c0006t0001g0183 others(1): Show a0002c0002t0002g0358 a0002c0005t0004g0190 a0002c0006t0001g0183 a0002c0006t0001g0349	4	362	0.0111	14	c.71- others(29): Show c.71-2569_71-2556dupTATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00735.hp1 others(26): Show HG00408.hp1 HG00621.hp2 HG00735.hp1 HG01255.hp2 HG01433.hp2 HG01975.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02965.hp1 HG03834.hp2 NA18950.hp2 NA18963.hp2 NA18971.hp2 NA18994.hp1 NA19000.hp1 NA19010.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp1 NA19082.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 others(1): Show a0001c0003 a0002c0002 a0002c0004 a0002c0005	a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 others(11): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0003t0044 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0017 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004	a0001c0003t0002g0177 a0001c0003t0003g0083 a0001c0003t0003g0107 others(26): Show a0001c0003t0002g0177 a0001c0003t0003g0083 a0001c0003t0003g0107 a0001c0003t0003g0136 a0001c0003t0003g0147 a0001c0003t0003g0220 a0001c0003t0003g0224 a0001c0003t0003g0300 a0001c0003t0003g0304 a0001c0003t0003g0357 a0001c0003t0015g0130 a0001c0003t0044g0261 a0002c0002t0002g0184 a0002c0002t0005g0250 a0002c0002t0012g0162 a0002c0002t0017g0188 a0002c0004t0001g0065 a0002c0004t0001g0230 a0002c0004t0001g0265 a0002c0004t0003g0082 a0002c0004t0003g0196 a0002c0004t0003g0198 a0002c0004t0003g0231 a0002c0004t0004g0115 a0002c0005t0001g0062 a0002c0005t0001g0298 a0002c0005t0003g0075 a0002c0005t0003g0180 a0002c0005t0004g0194	29	362	0.0801	14	c.954 others(29): Show c.954+218_954+231dupCACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146347	T T	TATATGGA others(7): Show TATATGGAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0260 a0015c0030t0001g0260	1	348	0.0029	14	c.24 others(25): Show c.2479_*2480insTATATATTCCATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1659		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(7): Show CATATACATATACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG03471.hp2 others(1): Show HG02055.hp2 HG02280.hp2 HG03471.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0016 a0001c0001t0006 a0003c0003t0016	a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0011 others(1): Show a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0011 a0003c0003t0016g0308	4	348	0.0115	14	c.336 others(33): Show c.3363+1235_3363+1236insATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0340 a0006c0007t0010g0340	1	348	0.0029	14	c.100 others(33): Show c.1006+4520_1006+4533dupAAAAAAAAAAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0135 a0010c0010t0006g0135	1	348	0.0029	14	c.100 others(33): Show c.1006+3843_1006+3856dupATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00639.hp2 others(48): Show HG00280.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp1 HG01074.hp2 HG01106.hp1 HG01256.hp1 HG01346.hp1 HG01516.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02698.hp2 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA19001.hp1 NA19006.hp1 NA19007.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0023	a0001c0001 a0001c0034 a0002c0002 others(7): Show a0001c0001 a0001c0034 a0002c0002 a0003c0003 a0004c0004 a0004c0006 a0006c0007 a0009c0018 a0012c0011 a0023c0026	a0001c0001t0002 a0001c0034t0002 a0002c0002t0001 others(7): Show a0001c0001t0002 a0001c0034t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 a0004c0006t0003 a0006c0007t0004 a0009c0018t0001 a0012c0011t0002 a0023c0026t0001	a0001c0001t0002g0026 a0001c0001t0002g0072 a0001c0001t0002g0073 others(47): Show a0001c0001t0002g0026 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0034t0002g0109 a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0071 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0103 a0003c0003t0001g0110 a0004c0004t0003g0074 a0004c0004t0003g0105 a0004c0006t0003g0104 a0006c0007t0004g0111 a0009c0018t0001g0102 a0012c0011t0002g0077 a0012c0011t0002g0078 a0023c0026t0001g0070	51	348	0.1466	14	c.-17 others(29): Show c.-172+17_-172+30dupATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	198	0.0051	14	c.382 others(31): Show c.3829+128_3829+141dupATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02738.hp2 HG01258.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0121 a0001c0001t0002g0025 a0001c0001t0002g0121	2	198	0.0101	14	c.178 others(31): Show c.1783-933_1783-920dupTTTTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215020292	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0073 a0002c0027t0003g0073	1	198	0.0051	14	c.128 others(31): Show c.1288-510_1288-497dupTGTGTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	11/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215051609	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG02109.hp2 others(7): Show HG00438.hp2 HG01074.hp2 HG02109.hp2 HG02132.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp1 NA18981.hp2 NA19002.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0016 a0001c0029 a0021c0037	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0010t0004 a0001c0011t0005 a0001c0016t0005 a0001c0029t0002 a0021c0037t0004	a0001c0001t0002g0123 a0001c0002t0001g0027 a0001c0002t0001g0163 others(7): Show a0001c0001t0002g0123 a0001c0002t0001g0027 a0001c0002t0001g0163 a0001c0004t0001g0026 a0001c0010t0004g0114 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0016t0005g0063 a0001c0029t0002g0031 a0021c0037t0004g0023	10	198	0.0505	14	c.507 others(29): Show c.507+864_507+877dupACACACACACACAC	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	5/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02109.hp2 HG02572.hp2	a0080 a0087 a0080 a0087	a0080c0090 a0087c0039 a0080c0090 a0087c0039	a0080c0090t0005 a0087c0039t0001 a0080c0090t0005 a0087c0039t0001	a0080c0090t0005g0104 a0087c0039t0001g0003 a0080c0090t0005g0104 a0087c0039t0001g0003	2	178	0.0112	14	c.764 others(31): Show c.764-1867_764-1854dupTTTTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48309033	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG04204.hp2 NA19074.hp1 HG02897.hp2 HG04204.hp2 NA19074.hp1	a0001 a0008 a0040 a0001 a0008 a0040	a0001c0001 a0008c0013 a0040c0111 a0001c0001 a0008c0013 a0040c0111	a0001c0001t0001 a0008c0013t0002 a0040c0111t0006 a0001c0001t0001 a0008c0013t0002 a0040c0111t0006	a0001c0001t0001g0063 a0008c0013t0002g0088 a0040c0111t0006g0031 a0001c0001t0001g0063 a0008c0013t0002g0088 a0040c0111t0006g0031	3	178	0.0169	14	c.932 others(31): Show c.9322-895_9322-882dupCACACACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	23/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48401744	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00735.hp1 others(3): Show HG00408.hp2 HG00558.hp2 HG00735.hp1 HG03041.hp1 HG03098.hp2 NA18942.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0007 a0014	a0002c0022 a0004c0008 a0006c0007 others(2): Show a0002c0022 a0004c0008 a0006c0007 a0007c0101 a0014c0019	a0002c0022t0002 a0004c0008t0001 a0006c0007t0003 others(2): Show a0002c0022t0002 a0004c0008t0001 a0006c0007t0003 a0007c0101t0003 a0014c0019t0002	a0002c0022t0002g0124 a0004c0008t0001g0149 a0006c0007t0003g0121 others(3): Show a0002c0022t0002g0124 a0004c0008t0001g0149 a0006c0007t0003g0121 a0007c0101t0003g0139 a0014c0019t0002g0136 a0014c0019t0002g0175	6	178	0.0337	14	c.118 others(35): Show c.11874-1920_11874-1907dupACACACACACACAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	38/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411049	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0003 a0006c0023t0003	a0006c0023t0003g0138 a0006c0023t0003g0138	1	178	0.0056	14	c.122 others(33): Show c.12228+373_12228+374insCTTTCTTTCTTTCT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411050	T T	TCTTTCTT others(7): Show TCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0111 a0008c0013t0001g0111	1	178	0.0056	14	c.122 others(33): Show c.12228+373_12228+374insCTTTCTTTCTTTCC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48563832	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0079 a0079	a0079c0087 a0079c0087	a0079c0087t0002 a0079c0087t0002	a0079c0087t0002g0153 a0079c0087t0002g0153	1	178	0.0056	14	c.143 others(37): Show c.14355-16385_14355-16384insGTGTGTTTGTGTGT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp1 HG02895.hp1 others(11): Show HG00558.hp2 HG02071.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 NA18942.hp2 NA18977.hp2 NA18986.hp2 NA18987.hp2 NA19062.hp2 NA20752.hp1	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0010 a0015 a0019 a0024 a0040 a0049	a0001c0103 a0004c0079 a0005c0005 others(10): Show a0001c0103 a0004c0079 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0007c0101 a0010c0031 a0015c0025 a0019c0030 a0024c0027 a0040c0111 a0049c0055	a0001c0103t0006 a0004c0079t0006 a0005c0005t0003 others(10): Show a0001c0103t0006 a0004c0079t0006 a0005c0005t0003 a0005c0024t0003 a0006c0007t0003 a0006c0023t0003 a0007c0101t0003 a0010c0031t0003 a0015c0025t0003 a0019c0030t0003 a0024c0027t0006 a0040c0111t0006 a0049c0055t0003	a0001c0103t0006g0059 a0004c0079t0006g0147 a0005c0005t0003g0132 others(11): Show a0001c0103t0006g0059 a0004c0079t0006g0147 a0005c0005t0003g0132 a0005c0024t0003g0107 a0006c0007t0003g0121 a0006c0023t0003g0171 a0007c0101t0003g0139 a0010c0031t0003g0118 a0015c0025t0003g0024 a0019c0030t0003g0038 a0019c0030t0003g0068 a0024c0027t0006g0162 a0040c0111t0006g0031 a0049c0055t0003g0125	14	178	0.0787	14	c.148 others(35): Show c.14838-5895_14838-5882dupAAAAAAAAAAAAAA	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(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp1 HG01517.hp2 others(15): Show HG00609.hp2 HG01261.hp1 HG01517.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp1 NA18906.hp1 NA18964.hp2 NA18969.hp2 NA18978.hp2 NA18991.hp2 NA19090.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0016 a0019 a0032	a0001c0001 a0002c0011 a0002c0031 others(10): Show a0001c0001 a0002c0011 a0002c0031 a0002c0037 a0002c0046 a0002c0081 a0004c0042 a0005c0014 a0006c0004 a0008c0006 a0016c0019 a0019c0086 a0032c0104	a0001c0001t0001 a0002c0011t0004 a0002c0011t0012 others(11): Show a0001c0001t0001 a0002c0011t0004 a0002c0011t0012 a0002c0031t0001 a0002c0037t0001 a0002c0046t0002 a0002c0081t0013 a0004c0042t0008 a0005c0014t0011 a0006c0004t0004 a0008c0006t0003 a0016c0019t0018 a0019c0086t0003 a0032c0104t0005	a0001c0001t0001g0077 a0001c0001t0001g0176 a0002c0011t0004g0112 others(15): Show a0001c0001t0001g0077 a0001c0001t0001g0176 a0002c0011t0004g0112 a0002c0011t0012g0134 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0037t0001g0275 a0002c0046t0002g0154 a0002c0081t0013g0277 a0004c0042t0008g0083 a0005c0014t0011g0222 a0006c0004t0004g0227 a0008c0006t0003g0187 a0016c0019t0018g0117 a0016c0019t0018g0131 a0016c0019t0018g0177 a0019c0086t0003g0100 a0032c0104t0005g0168	18	318	0.0566	14	c.494 others(31): Show c.4943+411_4943+424dupTGTGTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0289 a0004c0008t0003g0289	1	318	0.0031	14	c.421 others(30): Show c.421+997_421+1010dupTTTTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	G G	GGTGGGTG others(7): Show GGTGGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0008 a0012 a0015 a0022	a0002c0017 a0002c0057 a0002c0081 others(9): Show a0002c0017 a0002c0057 a0002c0081 a0002c0085 a0004c0044 a0005c0022 a0005c0026 a0008c0006 a0012c0041 a0012c0102 a0015c0020 a0022c0050	a0002c0017t0026 a0002c0057t0001 a0002c0081t0013 others(11): Show a0002c0017t0026 a0002c0057t0001 a0002c0081t0013 a0002c0085t0008 a0004c0044t0013 a0005c0022t0002 a0005c0022t0021 a0005c0026t0024 a0008c0006t0003 a0012c0041t0001 a0012c0102t0007 a0015c0020t0001 a0015c0020t0004 a0022c0050t0001	a0002c0017t0026g0276 a0002c0057t0001g0148 a0002c0081t0013g0277 others(12): Show a0002c0017t0026g0276 a0002c0057t0001g0148 a0002c0081t0013g0277 a0002c0085t0008g0142 a0004c0044t0013g0280 a0005c0022t0002g0284 a0005c0022t0021g0141 a0005c0022t0021g0147 a0005c0026t0024g0157 a0008c0006t0003g0187 a0012c0041t0001g0274 a0012c0102t0007g0188 a0015c0020t0001g0006 a0015c0020t0004g0005 a0022c0050t0001g0166	15	318	0.0472	14	c.160 others(31): Show c.160+1043_160+1044insACACACACACCCAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909654	A A	ACACACAC others(7): Show ACACACACATACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0082 a0005c0082	a0005c0082t0002 a0005c0082t0002	a0005c0082t0002g0282 a0005c0082t0002g0282	1	318	0.0031	14	c.-92 others(31): Show c.-92-5884_-92-5883insCGTGTATGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137003531	G G	GCAGTGGC others(7): Show GCAGTGGCACAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(215): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0033 a0001c0035 a0001c0037 a0001c0040 a0001c0046 a0001c0050 a0001c0053 a0001c0056 a0002c0004 a0002c0026 a0003c0021 a0003c0024 a0004c0010 a0007c0043 a0008c0042 a0009c0032 a0010c0038 a0011c0034 a0012c0044 a0013c0047 a0014c0030 a0015c0029 a0016c0052 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0004 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0001 a0001c0040t0001 a0001c0046t0001 a0001c0050t0001 a0001c0053t0001 a0001c0056t0001 a0002c0004t0001 a0002c0026t0001 a0003c0021t0001 a0003c0024t0001 a0004c0010t0001 a0007c0043t0001 a0008c0042t0001 a0009c0032t0001 a0010c0038t0001 a0011c0034t0001 a0012c0044t0001 a0013c0047t0001 a0014c0030t0001 a0015c0029t0001 a0016c0052t0001 a0017c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(138): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0032 a0001c0001t0006g0092 a0001c0002t0002g0137 a0001c0003t0001g0015 a0001c0003t0001g0041 a0001c0003t0001g0051 a0001c0003t0001g0054 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0169 a0001c0007t0001g0036 a0001c0007t0001g0096 a0001c0007t0001g0122 a0001c0007t0004g0050 a0001c0008t0001g0012 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0011t0001g0014 a0001c0012t0001g0016 a0001c0014t0004g0158 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0018t0001g0034 a0001c0019t0001g0040 a0001c0027t0001g0083 a0001c0028t0001g0084 a0001c0033t0001g0149 a0001c0035t0001g0095 a0001c0037t0001g0131 a0001c0040t0001g0164 a0001c0046t0001g0071 a0001c0050t0001g0115 a0001c0053t0001g0056 a0001c0056t0001g0186 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073 a0003c0021t0001g0079 a0003c0021t0001g0140 a0003c0024t0001g0053 a0003c0024t0001g0057 a0004c0010t0001g0024 a0004c0010t0001g0082 a0007c0043t0001g0141 a0008c0042t0001g0165 a0009c0032t0001g0193 a0010c0038t0001g0133 a0011c0034t0001g0124 a0012c0044t0001g0099 a0013c0047t0001g0166 a0014c0030t0001g0068 a0015c0029t0001g0145 a0016c0052t0001g0168 a0017c0057t0001g0196	218	320	0.6813	14	c.43 others(25): Show c.4397_*4398insAGATTGTGCCACTG	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding		3702		chr9	TogoVar
ABCA3_chr16_2270881_2345728	2289961	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	252	0.0040	14	c.251 others(31): Show c.2514-355_2514-342dupTGTGTGTGTGTGTG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94116999	T T	TTTCTTTC others(7): Show TTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	306	0.0033	14	c.67- others(29): Show c.67-3934_67-3933insGAAGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02723.hp1 HG01069.hp2 HG02723.hp1	a0001 a0005 a0001 a0005	a0001c0010 a0005c0007 a0001c0010 a0005c0007	a0001c0010t0010 a0005c0007t0006 a0001c0010t0010 a0005c0007t0006	a0001c0010t0010g0333 a0005c0007t0006g0339 a0001c0010t0010g0333 a0005c0007t0006g0339	2	350	0.0057	14	c.331 others(33): Show c.3315+1024_3315+1037dupAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293833	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0024 a0003c0003t0003g0024	1	350	0.0029	14	c.149 others(31): Show c.1495+808_1495+821dupACACACACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298314	G G	GGAAGGAA others(7): Show GGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG01934.hp2 others(8): Show HG00741.hp2 HG01928.hp1 HG01934.hp2 HG02040.hp1 HG02109.hp2 HG02523.hp1 HG03486.hp2 HG04204.hp2 NA18985.hp2 NA18999.hp1 NA19043.hp1	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0001 a0008c0012 a0015c0023 a0002c0001 a0008c0012 a0015c0023	a0002c0001t0002 a0002c0001t0025 a0008c0012t0002 others(1): Show a0002c0001t0002 a0002c0001t0025 a0008c0012t0002 a0015c0023t0002	a0002c0001t0002g0217 a0002c0001t0002g0238 a0002c0001t0002g0250 others(8): Show a0002c0001t0002g0217 a0002c0001t0002g0238 a0002c0001t0002g0250 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0289 a0002c0001t0002g0292 a0002c0001t0002g0299 a0002c0001t0025g0224 a0008c0012t0002g0258 a0015c0023t0002g0279	11	350	0.0314	14	c.126 others(31): Show c.1268-956_1268-955insTCCTTCCTTCCTTC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69299471	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01070.hp2 others(15): Show HG00741.hp1 HG01069.hp1 HG01070.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp2 NA18945.hp2 NA19007.hp2 NA19009.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0001 a0001c0004t0014 a0001c0004t0027 others(1): Show a0001c0002t0001 a0001c0004t0014 a0001c0004t0027 a0001c0010t0010	a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0057 others(15): Show a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0146 a0001c0002t0001g0215 a0001c0004t0014g0321 a0001c0004t0014g0322 a0001c0004t0027g0320 a0001c0010t0010g0332 a0001c0010t0010g0333 a0001c0010t0010g0335	18	350	0.0514	14	c.126 others(33): Show c.1267+1654_1267+1667dupGTGTGTGTGTGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	350	0.0029	14	c.931 others(29): Show c.931-880_931-879insATATATTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303861	T T	TATATACA others(7): Show TATATACACACATAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp1 HG01978.hp1 others(4): Show HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0241 a0002c0001t0002g0294 a0002c0001t0002g0303 others(4): Show a0002c0001t0002g0241 a0002c0001t0002g0294 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0306 a0002c0001t0002g0310	7	350	0.0200	14	c.930 others(29): Show c.930+807_930+808insGTATGTGTGTATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303861	T T	TATATATA others(7): Show TATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(90): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00642.hp2 HG00741.hp2 HG01123.hp1 HG01261.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02818.hp1 HG03017.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA20300.hp2	a0002 a0007 a0008 others(4): Show a0002 a0007 a0008 a0009 a0013 a0015 a0016	a0002c0001 a0007c0011 a0008c0012 others(4): Show a0002c0001 a0007c0011 a0008c0012 a0009c0025 a0013c0019 a0015c0023 a0016c0014	a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 others(11): Show a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 a0002c0001t0011 a0002c0001t0024 a0002c0001t0025 a0002c0001t0032 a0007c0011t0002 a0008c0012t0002 a0008c0012t0023 a0009c0025t0002 a0013c0019t0002 a0015c0023t0002 a0016c0014t0002	a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0211 others(90): Show a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0211 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0218 a0002c0001t0002g0223 a0002c0001t0002g0225 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0235 a0002c0001t0002g0236 a0002c0001t0002g0237 a0002c0001t0002g0238 a0002c0001t0002g0240 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0002g0259 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0296 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0307 a0002c0001t0002g0308 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0004g0316 a0002c0001t0004g0317 a0002c0001t0009g0239 a0002c0001t0009g0260 a0002c0001t0009g0290 a0002c0001t0009g0309 a0002c0001t0011g0248 a0002c0001t0011g0297 a0002c0001t0011g0298 a0002c0001t0024g0277 a0002c0001t0025g0224 a0002c0001t0032g0347 a0007c0011t0002g0286 a0007c0011t0002g0287 a0007c0011t0002g0288 a0008c0012t0002g0258 a0008c0012t0023g0278 a0009c0025t0002g0295 a0013c0019t0002g0252 a0015c0023t0002g0279 a0016c0014t0002g0257	93	350	0.2657	14	c.930 others(29): Show c.930+807_930+808insGTATGTGTATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02818.hp2 HG03130.hp2 others(2): Show HG00544.hp2 HG02818.hp2 HG03130.hp2 HG04184.hp2 NA18967.hp2	a0002 a0020 a0002 a0020	a0002c0002 a0020c0024 a0002c0002 a0020c0024	a0002c0002t0002 a0020c0024t0002 a0002c0002t0002 a0020c0024t0002	a0002c0002t0002g0204 a0002c0002t0002g0229 a0002c0002t0002g0245 others(2): Show a0002c0002t0002g0204 a0002c0002t0002g0229 a0002c0002t0002g0245 a0002c0002t0002g0246 a0020c0024t0002g0218	5	326	0.0153	14	c.393 others(31): Show c.3937+118_3937+131dupATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146347	T T	TATATGGA others(7): Show TATATGGAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG02970.hp2 HG02145.hp2 HG02970.hp1 HG02970.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0001 a0001c0001t0001 a0006c0013t0001	a0001c0001t0001g0089 a0006c0013t0001g0165 a0006c0013t0001g0249 a0001c0001t0001g0089 a0006c0013t0001g0165 a0006c0013t0001g0249	3	326	0.0092	14	c.-46 others(25): Show c.-4649_-4648insTATATATTCCATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4453		chr17	TogoVar
ABCA7_chr19_1035107_1070572	1048496	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0004 a0005c0022t0001g0004	1	30	0.0333	14	c.227 others(31): Show c.2270-386_2270-385insAAAAAAAAAAAAAA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1061390	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0014 a0011c0008t0002g0014	1	30	0.0333	14	c.546 others(31): Show c.5464-383_5464-370dupAAAAAAAAAAAAAA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68862565	C C	CCACACAC others(7): Show CCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03491.hp1 HG03490.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0180 a0001c0005t0001g0143 a0001c0001t0001g0180 a0001c0005t0001g0143	2	274	0.0073	14	c.55 others(25): Show c.5519_*5520insTGTGTGTGTGTGTG	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		4723		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887881	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0235 a0016c0018t0001g0235	1	274	0.0037	14	c.314 others(31): Show c.3145-389_3145-376dupATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(7): Show TATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02055.hp1 HG02615.hp2 HG02922.hp2 HG03041.hp1 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0020 a0022	a0001c0001 a0001c0004 a0002c0006 others(4): Show a0001c0001 a0001c0004 a0002c0006 a0004c0008 a0005c0009 a0020c0049 a0022c0020	a0001c0001t0001 a0001c0004t0001 a0002c0006t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0002c0006t0001 a0004c0008t0001 a0004c0008t0005 a0005c0009t0001 a0020c0049t0001 a0022c0020t0001	a0001c0001t0001g0118 a0001c0004t0001g0128 a0002c0006t0001g0001 others(7): Show a0001c0001t0001g0118 a0001c0004t0001g0128 a0002c0006t0001g0001 a0002c0006t0001g0094 a0004c0008t0001g0126 a0004c0008t0001g0153 a0004c0008t0005g0152 a0005c0009t0001g0106 a0020c0049t0001g0093 a0022c0020t0001g0145	11	274	0.0402	14	c.314 others(31): Show c.3145-406_3145-405insGGATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887913	T T	TATATATA others(7): Show TATATATATATATCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0139 a0024c0021t0001g0139	1	274	0.0037	14	c.314 others(31): Show c.3145-408_3145-407insGGATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	274	0.0037	14	c.150 others(29): Show c.1501+34_1501+47dupAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0153 a0004c0008t0001g0153	1	274	0.0037	14	c.466 others(31): Show c.466+1675_466+1688dupCACACACACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01167.hp1 others(35): Show HG00733.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01346.hp1 HG01346.hp2 HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA19001.hp2 NA19010.hp1 NA19030.hp2 NA19063.hp1 NA19081.hp1 NA20805.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0010 a0017 a0022 a0029 a0031	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0017 a0004c0008 a0004c0026 a0005c0009 a0006c0014 a0010c0012 a0017c0024 a0022c0020 a0029c0028 a0031c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0017t0001 a0004c0008t0001 a0004c0026t0001 a0005c0009t0001 a0006c0014t0001 a0010c0012t0001 a0017c0024t0001 a0022c0020t0001 a0029c0028t0001 a0031c0027t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0041 others(35): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0002t0001g0027 a0001c0003t0001g0057 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0004t0001g0033 a0001c0004t0001g0037 a0001c0005t0001g0142 a0001c0005t0001g0146 a0001c0005t0001g0148 a0001c0011t0001g0147 a0001c0017t0001g0024 a0004c0008t0001g0110 a0004c0008t0001g0126 a0004c0008t0001g0153 a0004c0026t0001g0114 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0006c0014t0001g0054 a0010c0012t0001g0030 a0010c0012t0001g0031 a0017c0024t0001g0022 a0022c0020t0001g0145 a0029c0028t0001g0113 a0031c0027t0001g0107	38	274	0.1387	14	c.466 others(31): Show c.466+1397_466+1410dupTATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18962.hp2 NA19063.hp2 HG02129.hp1 NA18962.hp2 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0001c0001t0001 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0178 a0001c0002t0001g0242 a0003c0007t0001g0263 a0001c0001t0001g0178 a0001c0002t0001g0242 a0003c0007t0001g0263	3	274	0.0110	14	c.-5- others(29): Show c.-5-2291_-5-2278dupTATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18612.hp1 NA18964.hp2 HG01071.hp1 NA18612.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0162 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0162	3	274	0.0110	14	c.-5- others(29): Show c.-5-2321_-5-2320insGTGTATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944359	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	274	0.0037	14	c.-5- others(29): Show c.-5-2321_-5-2320insGTATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68956352	T T	TACACACA others(7): Show TACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02572.hp1 HG02922.hp1 HG03225.hp1 NA19240.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0012	a0001c0002 a0002c0022 a0007c0010 others(1): Show a0001c0002 a0002c0022 a0007c0010 a0012c0055	a0001c0002t0001 a0002c0022t0001 a0007c0010t0001 others(1): Show a0001c0002t0001 a0002c0022t0001 a0007c0010t0001 a0012c0055t0001	a0001c0002t0001g0127 a0002c0022t0001g0136 a0007c0010t0001g0123 others(1): Show a0001c0002t0001g0127 a0002c0022t0001g0136 a0007c0010t0001g0123 a0012c0055t0001g0131	4	274	0.0146	14	c.-13 others(25): Show c.-1301_-1300insGTGTGTGTGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		961		chr17	TogoVar

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