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
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0025 a0002c0008t0001 a0001c0001t0025 a0002c0008t0001	a0001c0001t0025g0392 a0002c0008t0001g0212 a0001c0001t0025g0392 a0002c0008t0001g0212	2	406	0.0049	30	c.-18 others(49): Show c.-187-7505_-187-7476dupCACACACACACACACACACACACACA CACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	310	0.0032	30	c.386 others(47): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01928.hp1 HG01981.hp2 others(1): Show HG01257.hp1 HG01928.hp1 HG01981.hp2 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0147 a0002c0002t0003g0164 a0002c0002t0003g0217 others(1): Show a0002c0002t0003g0147 a0002c0002t0003g0164 a0002c0002t0003g0217 a0002c0002t0003g0230	4	380	0.0105	30	c.535 others(47): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18983.hp1 HG03669.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0015 a0002c0002t0001 a0002c0002t0015	a0002c0002t0001g0038 a0002c0002t0015g0002 a0002c0002t0001g0038 a0002c0002t0015g0002	2	298	0.0067	30	c.236 others(49): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0040 a0002c0005t0040	a0002c0005t0040g0006 a0002c0005t0040g0006	1	298	0.0034	30	c.227 others(49): Show c.2270-4619_2270-4618insGTGTGTGTGTGTGTATATATATATAT ATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	362	0.0028	30	c.-41 others(41): Show c.-4199_-4198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AATF_chr17_36943954_37061871	37023490	T T	TATTCTTT others(23): Show TATTCTTTTTAAACAGAGTTTAAAAAGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(61): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18963.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 others(61): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0145 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0109 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0005g0126 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0139 a0001c0002t0009g0153	64	245	0.2612	30	c.154 others(49): Show c.1547+2646_1547+2675dupTAAAAAGAGGCATTCTTTTTAAACAG AGTT	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01168.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01168.hp1 HG03942.hp1 HG04199.hp1 NA18980.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 a0001c0001 a0001c0011 a0001c0013	a0001c0001t0001 a0001c0001t0039 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0039 a0001c0011t0001 a0001c0011t0002 a0001c0013t0002	a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0272 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0272 a0001c0001t0039g0101 a0001c0011t0001g0206 a0001c0011t0002g0205 a0001c0013t0002g0203	7	362	0.0193	30	c.-41 others(49): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGGGAGAGGGAG GGAG	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(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0230 a0002c0004t0001g0230	1	362	0.0028	30	c.71- others(45): Show c.71-2556_71-2555insTATATATATATATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0244 a0002c0002t0006g0244	1	362	0.0028	30	c.71- others(45): Show c.71-2577_71-2576insTTATATATATATATATATATATATATATAT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	362	0.0028	30	c.71- others(45): Show c.71-2556_71-2555insTATATATATATATATATATATATACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18960.hp1 HG02258.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0002 a0002c0002t0001 a0002c0009t0002	a0002c0002t0001g0170 a0002c0009t0002g0320 a0002c0002t0001g0170 a0002c0009t0002g0320	2	362	0.0055	30	c.71- others(45): Show c.71-2556_71-2555insTATATATATATATATATATATATATACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19002.hp1 HG02027.hp2 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0029 a0002c0002t0003 a0002c0002t0029	a0002c0002t0003g0139 a0002c0002t0029g0208 a0002c0002t0003g0139 a0002c0002t0029g0208	2	362	0.0055	30	c.71- others(45): Show c.71-2556_71-2555insTATATATATATATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146164	A A	AATATATA others(23): Show AATATATATACGGACTATATATATACGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0338 a0007c0008t0007g0338	1	348	0.0029	30	c.26 others(41): Show c.2662_*2663insAGTCCGTATATATATAGTCCGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1842		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69146239	T T	TATATATA others(23): Show TATATATATATACGGAATATATATATACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	348	0.0029	30	c.25 others(41): Show c.2587_*2588insTCCGTATATATATATTCCGTATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1767		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162808	T T	TATATACA others(23): Show TATATACATATACATATACACATACATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0014 a0025c0029t0014	a0025c0029t0014g0197 a0025c0029t0014g0197	1	348	0.0029	30	c.336 others(49): Show c.3363+1265_3363+1266insGTATATGTATGTGTATATGTATATGT ATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162808	T T	TATATACA others(23): Show TATATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04115.hp2 HG03688.hp1 HG04115.hp2	a0022 a0023 a0022 a0023	a0022c0024 a0023c0026 a0022c0024 a0023c0026	a0022c0024t0001 a0023c0026t0001 a0022c0024t0001 a0023c0026t0001	a0022c0024t0001g0303 a0023c0026t0001g0070 a0022c0024t0001g0303 a0023c0026t0001g0070	2	348	0.0058	30	c.336 others(49): Show c.3363+1236_3363+1265dupGTATATGTATATGTATATGTATATGT ATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(23): Show CATATACATATACATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG02451.hp2 others(10): Show HG00438.hp2 HG02129.hp2 HG02451.hp2 HG02572.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1 NA19001.hp1 NA19066.hp1 NA19079.hp2 NA19087.hp1 NA19089.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0001 a0008c0009t0009 a0002c0002t0001 a0008c0009t0009	a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0022 others(9): Show a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0059 a0002c0002t0001g0279 a0008c0009t0009g0004 a0008c0009t0009g0200 a0008c0009t0009g0226 a0008c0009t0009g0244 a0008c0009t0009g0245	13	348	0.0374	30	c.336 others(49): Show c.3363+1235_3363+1236insATATATGTATATGTATATGTATATGT ATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(23): Show CATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	348	0.0029	30	c.336 others(49): Show c.3363+1235_3363+1236insATATATATATATGTATATGTATATGT ATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0215 a0005c0005t0004g0215	1	348	0.0029	30	c.100 others(49): Show c.1006+4504_1006+4533dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01891.hp2 others(2): Show HG01074.hp1 HG01243.hp2 HG01891.hp2 NA18945.hp2 NA19030.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0004c0006 a0009c0022 a0004c0004 a0004c0006 a0009c0022	a0004c0004t0003 a0004c0006t0003 a0009c0022t0012 a0004c0004t0003 a0004c0006t0003 a0009c0022t0012	a0004c0004t0003g0235 a0004c0004t0003g0241 a0004c0004t0003g0255 others(2): Show a0004c0004t0003g0235 a0004c0004t0003g0241 a0004c0004t0003g0255 a0004c0006t0003g0121 a0009c0022t0012g0136	5	348	0.0144	30	c.100 others(49): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT ATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(23): Show CATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02523.hp1 NA19066.hp1 HG02074.hp1 HG02523.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0059 a0001c0001t0002g0117 a0001c0001t0020g0155 a0001c0001t0002g0059 a0001c0001t0002g0117 a0001c0001t0020g0155	3	198	0.0152	30	c.382 others(47): Show c.3829+141_3829+142insATATATATATATATATATATATATATGT AT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02886.hp2 others(1): Show HG01243.hp2 HG02630.hp1 HG02886.hp2 HG03017.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0016	a0001c0002 a0005c0062 a0006c0019 others(1): Show a0001c0002 a0005c0062 a0006c0019 a0016c0039	a0001c0002t0001 a0005c0062t0004 a0006c0019t0001 others(1): Show a0001c0002t0001 a0005c0062t0004 a0006c0019t0001 a0016c0039t0012	a0001c0002t0001g0050 a0005c0062t0004g0078 a0006c0019t0001g0099 others(1): Show a0001c0002t0001g0050 a0005c0062t0004g0078 a0006c0019t0001g0099 a0016c0039t0012g0185	4	198	0.0202	30	c.382 others(47): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT AT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134470	G G	GTATATAT others(23): Show GTATATATACGTATATATGTACATATATGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0014 a0001c0022t0019g0014	1	198	0.0051	30	c.69+ others(45): Show c.69+3669_69+3670insTACATATATGTACATATATACGTATATATA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02258.hp2 others(2): Show HG01243.hp2 HG02109.hp1 HG02258.hp2 HG03225.hp1 NA19000.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0001c0033 a0003c0020 others(1): Show a0001c0001 a0001c0033 a0003c0020 a0016c0039	a0001c0001t0012 a0001c0033t0026 a0003c0020t0008 others(1): Show a0001c0001t0012 a0001c0033t0026 a0003c0020t0008 a0016c0039t0012	a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0033t0026g0193 others(2): Show a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0033t0026g0193 a0003c0020t0008g0197 a0016c0039t0012g0185	5	198	0.0253	30	c.69+ others(45): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0051 a0007c0011t0003g0051	1	178	0.0056	30	c.764 others(47): Show c.764-1854_764-1853insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(23): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03453.hp2 NA18959.hp1 others(1): Show HG01975.hp2 HG03453.hp2 NA18959.hp1 NA19091.hp2	a0012 a0018 a0038 others(1): Show a0012 a0018 a0038 a0047	a0012c0043 a0018c0029 a0038c0108 others(1): Show a0012c0043 a0018c0029 a0038c0108 a0047c0040	a0012c0043t0002 a0018c0029t0004 a0038c0108t0001 others(1): Show a0012c0043t0002 a0018c0029t0004 a0038c0108t0001 a0047c0040t0001	a0012c0043t0002g0098 a0018c0029t0004g0070 a0038c0108t0001g0113 others(1): Show a0012c0043t0002g0098 a0018c0029t0004g0070 a0038c0108t0001g0113 a0047c0040t0001g0009	4	178	0.0225	30	c.122 others(49): Show c.12228+621_12228+650dupTCTTTTCTTTTCTTTTCTTTTCTTTT CTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862631	T T	TGCTGGGC others(23): Show TGCTGGGCCGGGCCGGGCAGCGCCGGGCAGC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0011 a0005c0014t0011	a0005c0014t0011g0222 a0005c0014t0011g0222	1	318	0.0031	30	c.422 others(45): Show c.422-832_422-831insGCTGCCCGGCGCTGCCCGGCCCGGCCCAGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA4_chr1_93987834_94126148	93998744	T T	TTTATTTT others(23): Show TTTATTTTATTTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0249 a0001c0006t0001g0039 a0001c0004t0001g0249 a0001c0006t0001g0039	2	306	0.0065	30	c.648 others(47): Show c.6480-635_6480-634insCATAAAATAAAATAAAATAAAATAAAAT AA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94003356	T T	TTCTCTTA others(23): Show TTCTCTTATATTTTTGAAGAATACAGTCTCC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0022 a0007c0027t0002g0022	1	306	0.0033	30	c.614 others(49): Show c.6148-1365_6148-1364insGGAGACTGTATTCTTCAAAAATATAA GAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	44/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69249627	C C	CATTACAA others(23): Show CATTACAATAGAGTTTATCTACAAAATCCCT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0002 a0013c0019t0002	a0013c0019t0002g0252 a0013c0019t0002g0252	1	350	0.0029	30	c.476 others(47): Show c.4765+248_4765+277dupAGGGATTTTGTAGATAAACTCTATTGTA AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	37/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298314	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02148.hp2 HG02165.hp2 others(9): Show HG00642.hp2 HG02148.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA19063.hp2 NA19070.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0009 a0002c0001t0002 a0002c0001t0009	a0002c0001t0002g0240 a0002c0001t0002g0243 a0002c0001t0002g0244 others(9): Show a0002c0001t0002g0240 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0256 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0301 a0002c0001t0002g0304 a0002c0001t0002g0312 a0002c0001t0009g0239 a0002c0001t0009g0260 a0002c0001t0009g0290	12	350	0.0343	30	c.126 others(47): Show c.1268-956_1268-955insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAATA others(23): Show AAAAAATATATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01099.hp2 others(9): Show HG00642.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG02148.hp1 HG02155.hp2 HG02572.hp2 HG03688.hp2 HG04184.hp2 NA19084.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0021 others(9): Show a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0021 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0152	12	350	0.0343	30	c.931 others(45): Show c.931-880_931-879insATATATATATATGTGTATATATATATTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAATA others(23): Show AAAAAATATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	350	0.0029	30	c.931 others(45): Show c.931-880_931-879insATATATATATGTGTATATATATATATTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303791	T T	TATATATA others(23): Show TATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp2 NA20300.hp1 HG02965.hp1 NA19240.hp2 NA20300.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0028 a0006c0009t0003 a0006c0009t0028	a0006c0009t0003g0219 a0006c0009t0003g0220 a0006c0009t0028g0222 a0006c0009t0003g0219 a0006c0009t0003g0220 a0006c0009t0028g0222	3	350	0.0086	30	c.930 others(45): Show c.930+877_930+878insGTGTATATATATATATATATGTGTATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303793	T T	TATATATA others(23): Show TATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0021 a0003c0003t0003 a0003c0003t0021	a0003c0003t0003g0030 a0003c0003t0021g0029 a0003c0003t0003g0030 a0003c0003t0021g0029	2	350	0.0057	30	c.930 others(45): Show c.930+875_930+876insGTGTATATATATATATATATGTGTATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TACACATA others(23): Show TACACATATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0323 a0001c0004t0017g0323	1	350	0.0029	30	c.930 others(45): Show c.930+861_930+862insGTATATATATATGTATATATATATATGTGT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(23): Show TATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01258.hp2 others(10): Show HG01168.hp2 HG01169.hp1 HG01258.hp2 HG02004.hp1 HG02074.hp1 HG02622.hp1 NA18957.hp1 NA18969.hp2 NA18977.hp2 NA18982.hp1 NA19054.hp2 NA19063.hp1 NA19078.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0006 a0011c0018 a0001c0002 a0001c0006 a0011c0018	a0001c0002t0001 a0001c0006t0001 a0011c0018t0001 a0001c0002t0001 a0001c0006t0001 a0011c0018t0001	a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 others(10): Show a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0161 a0001c0006t0001g0110 a0001c0006t0001g0111 a0011c0018t0001g0148	13	350	0.0371	30	c.930 others(45): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303845	C C	CATATATA others(23): Show CATATATATATATGTATATATATACATACAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0029 a0004c0005t0029	a0004c0005t0029g0207 a0004c0005t0029g0207	1	350	0.0029	30	c.930 others(45): Show c.930+823_930+824insATGTATGTATATATATACATATATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	326	0.0031	30	c.393 others(47): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT AT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146164	A A	AATATATA others(23): Show AATATATATACGGACTATATATATACGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0008	1	326	0.0031	30	c.-44 others(41): Show c.-4466_-4465insAGTCCGTATATATATAGTCCGTATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4270		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69146239	T T	TATATATA others(23): Show TATATATATATACGGAATATATATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0200 a0019c0027t0002g0200	1	326	0.0031	30	c.-45 others(41): Show c.-4541_-4540insTCCGTATATATATATTCCGTATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4345		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18986.hp1 NA18994.hp1 HG02818.hp2 NA18986.hp1 NA18994.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0026 a0001c0001 a0004c0026	a0001c0001t0001 a0004c0026t0001 a0001c0001t0001 a0004c0026t0001	a0001c0001t0001g0023 a0001c0001t0001g0248 a0004c0026t0001g0114 a0001c0001t0001g0023 a0001c0001t0001g0248 a0004c0026t0001g0114	3	274	0.0110	30	c.314 others(47): Show c.3145-406_3145-405insGGATATATATATATATATATATATATAT AT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0149 a0001c0005t0001g0151 a0001c0005t0001g0149 a0001c0005t0001g0151	2	274	0.0073	30	c.466 others(47): Show c.466+1659_466+1688dupCACACACACACACACACACACACACACA CA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	68992861	G G	GTGTGTGT others(23): Show GTGTGTGTGTGCACGCATGCATGCATGTGCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02818.hp2 others(9): Show HG01884.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0003 a0001c0007 a0003c0003	a0001c0007t0004 a0003c0003t0004 a0003c0003t0013 a0001c0007t0004 a0003c0003t0004 a0003c0003t0013	a0001c0007t0004g0093 a0003c0003t0004g0003 a0003c0003t0004g0017 others(8): Show a0001c0007t0004g0093 a0003c0003t0004g0003 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0021 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0013g0022	12	312	0.0385	30	c.362 others(47): Show c.3624+154_3624+155insTGCACATGCATGCATGCGTGCACACACA CA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	27/38			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(23): Show TTTATATATTTATATATTTATATATTTATCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0004 a0001c0066t0004	a0001c0066t0004g0279 a0001c0066t0004g0279	1	306	0.0033	30	c.130 others(49): Show c.1308+1344_1308+1345insCGATAAATATATAAATATATAAATAT ATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975259	A A	ATAGATAA others(23): Show ATAGATAAATATATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02572.hp1 HG02922.hp2 others(5): Show HG00621.hp2 HG02572.hp1 HG02922.hp2 NA18944.hp1 NA18953.hp1 NA18988.hp1 NA18988.hp2 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0010 others(1): Show a0002c0003 a0002c0008 a0002c0010 a0002c0031	a0002c0003t0001 a0002c0008t0001 a0002c0008t0032 others(4): Show a0002c0003t0001 a0002c0008t0001 a0002c0008t0032 a0002c0010t0002 a0002c0010t0004 a0002c0010t0005 a0002c0031t0002	a0002c0003t0001g0264 a0002c0008t0001g0288 a0002c0008t0001g0303 others(5): Show a0002c0003t0001g0264 a0002c0008t0001g0288 a0002c0008t0001g0303 a0002c0008t0032g0284 a0002c0010t0002g0286 a0002c0010t0004g0296 a0002c0010t0005g0283 a0002c0031t0002g0237	8	306	0.0261	30	c.130 others(49): Show c.1308+1317_1308+1318insAAAATATTTATATATTTATATATTTA TCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(23): Show ATAGATAAATATATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00621.hp2 others(27): Show HG00438.hp2 HG00558.hp2 HG00621.hp2 HG02071.hp1 HG02572.hp1 HG02647.hp1 HG02922.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18953.hp1 NA18953.hp2 NA18969.hp2 NA18970.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA19007.hp1 NA19009.hp1 NA19063.hp1 NA19064.hp1 NA19087.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0005 a0001c0006 a0001c0007 others(11): Show a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0030 a0002c0003 a0002c0008 a0002c0010 a0002c0012 a0002c0027 a0002c0031 a0002c0065 a0002c0067 a0011c0034	a0001c0005t0001 a0001c0005t0010 a0001c0005t0030 others(18): Show a0001c0005t0001 a0001c0005t0010 a0001c0005t0030 a0001c0006t0002 a0001c0006t0034 a0001c0007t0001 a0001c0015t0002 a0001c0030t0002 a0002c0003t0001 a0002c0008t0001 a0002c0008t0018 a0002c0008t0032 a0002c0010t0002 a0002c0010t0004 a0002c0010t0005 a0002c0012t0005 a0002c0027t0005 a0002c0031t0002 a0002c0065t0006 a0002c0067t0006 a0011c0034t0001	a0001c0005t0001g0105 a0001c0005t0001g0203 a0001c0005t0001g0208 others(27): Show a0001c0005t0001g0105 a0001c0005t0001g0203 a0001c0005t0001g0208 a0001c0005t0010g0104 a0001c0005t0030g0106 a0001c0006t0002g0103 a0001c0006t0002g0107 a0001c0006t0002g0111 a0001c0006t0002g0112 a0001c0006t0002g0113 a0001c0006t0002g0115 a0001c0006t0002g0138 a0001c0006t0034g0114 a0001c0007t0001g0289 a0001c0015t0002g0290 a0001c0030t0002g0116 a0002c0003t0001g0264 a0002c0008t0001g0288 a0002c0008t0001g0303 a0002c0008t0018g0298 a0002c0008t0032g0284 a0002c0010t0002g0286 a0002c0010t0004g0296 a0002c0010t0005g0283 a0002c0012t0005g0218 a0002c0027t0005g0299 a0002c0031t0002g0237 a0002c0065t0006g0223 a0002c0067t0006g0302 a0011c0034t0001g0287	30	306	0.0980	30	c.130 others(49): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATATATTTA TCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975400	T T	TATAAATA others(23): Show TATAAATATATAAATATTTATATATTTATAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0300 a0002c0028t0001g0300	1	306	0.0033	30	c.130 others(49): Show c.1308+1176_1308+1177insCTATAAATATATAAATATTTATATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975564	T T	TATATTTA others(23): Show TATATTTATAGATAAATATAAAAATATTTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02004.hp1 others(2): Show HG00323.hp1 HG01256.hp1 HG02004.hp1 HG03130.hp1 NA18959.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0059 a0001c0001 a0001c0002 a0009c0059	a0001c0001t0001 a0001c0002t0003 a0001c0002t0015 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0015 a0009c0059t0004	a0001c0001t0001g0084 a0001c0001t0001g0184 a0001c0002t0003g0143 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0184 a0001c0002t0003g0143 a0001c0002t0015g0207 a0009c0059t0004g0200	5	306	0.0163	30	c.130 others(49): Show c.1308+1012_1308+1013insTTAAATATTTTTATATTTATCTATAA ATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar

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