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
AKAP7_chr6_131130467_131288532	131241577	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	304	0.0033	10	c.850 others(29): Show c.850+21811_850+21820dupGTGTGTGTGT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241623	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00741.hp2 others(16): Show HG00140.hp2 HG00280.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG03017.hp1 HG03139.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0039	a0001c0001t0001g0083 a0002c0002t0001g0063 a0002c0002t0001g0090 others(16): Show a0001c0001t0001g0083 a0002c0002t0001g0063 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0002g0233 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0003g0108 a0002c0002t0003g0113 a0002c0002t0003g0132 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0039g0079	19	304	0.0625	10	c.850 others(29): Show c.850+21816_850+21817insATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131247269	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18942.hp2 NA19006.hp1 HG03704.hp1 NA18942.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0002g0268 a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0002g0268	3	304	0.0099	10	c.850 others(29): Show c.850+27497_850+27506dupATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15385601	A A	ATTTTATT others(3): Show ATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	254	0.0039	10	c.153 others(29): Show c.1537-4999_1537-4990dupATAAATAAAA	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG03490.hp1 others(1): Show HG01109.hp1 HG02572.hp1 HG03490.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223	4	254	0.0158	10	c.153 others(29): Show c.1536+4244_1536+4253dupTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15395983	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00673.hp2 others(34): Show HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp2 HG03669.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18988.hp1 NA18988.hp2 NA19010.hp1 NA19010.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 others(34): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237	37	254	0.1457	10	c.153 others(29): Show c.1536+1157_1536+1166dupTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15406362	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02723.hp1 others(9): Show HG01109.hp2 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp2 HG03579.hp1 HG03688.hp1 HG04115.hp1 NA18940.hp1 NA19002.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0001g0141 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0244 a0005c0009t0001g0217	12	254	0.0472	10	c.89- others(25): Show c.89-2330_89-2321dupTCTCTCTCTC	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	2/13			chr19	TogoVar
AKAP8_chr19_15348385_15384787	15353320	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02080.hp1 HG03710.hp2 others(1): Show HG02074.hp1 HG02080.hp1 HG03710.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0034 a0001c0001t0004g0060 a0001c0001t0004g0079 others(1): Show a0001c0001t0002g0034 a0001c0001t0004g0060 a0001c0001t0004g0079 a0001c0001t0004g0196	4	286	0.0140	10	c.15 others(21): Show c.1594_*1595insTTTTTTTTTT	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding		64		chr19	TogoVar
AKAP8_chr19_15348385_15384787	15364108	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18978.hp2 NA18979.hp1 HG02273.hp2 NA18978.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0054 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0054	3	286	0.0105	10	c.116 others(29): Show c.1161-1867_1161-1858dupTTTTTTTTTT	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	91941882	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp2 others(24): Show HG00280.hp1 HG00639.hp1 HG00738.hp2 HG01123.hp2 HG01358.hp1 HG01884.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02809.hp2 HG02896.hp2 HG03139.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18947.hp1 NA18991.hp1 NA19074.hp2 NA19087.hp2 NA19091.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0018	a0001c0001 a0001c0008 a0004c0004 others(2): Show a0001c0001 a0001c0008 a0004c0004 a0006c0006 a0018c0023	a0001c0001t0001 a0001c0008t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0004c0004t0001 a0006c0006t0001 a0018c0023t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(24): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0008t0001g0188 a0001c0008t0001g0189 a0004c0004t0001g0202 a0004c0004t0001g0205 a0004c0004t0001g0206 a0006c0006t0001g0203 a0006c0006t0001g0204 a0018c0023t0001g0182	27	306	0.0882	10	c.48+ others(23): Show c.48+756_48+765dupTGTGTGTGTG	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	1/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	91963482	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18960.hp1 NA19002.hp1 HG02074.hp2 NA18960.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0100 a0001c0001t0001g0181 a0002c0002t0002g0238 a0001c0001t0001g0100 a0001c0001t0001g0181 a0002c0002t0002g0238	3	306	0.0098	10	c.49- others(27): Show c.49-10192_49-10183dupCACACACACA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	1/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	91963482	T T	TCTCACAC others(3): Show TCTCACACACA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19064.hp1 NA18979.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0300 a0002c0002t0002g0254 a0002c0002t0002g0300	2	306	0.0065	10	c.49- others(27): Show c.49-10228_49-10227insTCACACACAC	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	1/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	91995954	G G	GTAATGTA others(3): Show GTAATGTAGTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0002 a0013c0031t0002	a0013c0031t0002g0278 a0013c0031t0002g0278	1	306	0.0033	10	c.930 others(25): Show c.930+156_930+165dupAATGTAGTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	7/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92012973	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02451.hp2 HG02056.hp2 HG02451.hp2	a0001 a0028 a0001 a0028	a0001c0001 a0028c0014 a0001c0001 a0028c0014	a0001c0001t0001 a0028c0014t0002 a0001c0001t0001 a0028c0014t0002	a0001c0001t0001g0009 a0028c0014t0002g0208 a0001c0001t0001g0009 a0028c0014t0002g0208	2	306	0.0065	10	c.353 others(27): Show c.3532+358_3532+367dupTTTTTTTTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	9/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92018395	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01123.hp2 others(7): Show HG00280.hp1 HG00597.hp1 HG01123.hp2 NA18940.hp2 NA18957.hp1 NA18991.hp1 NA19063.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0137 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0008t0001g0188	10	306	0.0327	10	c.383 others(29): Show c.3837+1331_3837+1340dupCACACACACA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	12/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92061584	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01358.hp1 HG01361.hp2 others(5): Show HG00621.hp2 HG01358.hp1 HG01361.hp2 HG02258.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2	a0001 a0025 a0027 a0001 a0025 a0027	a0001c0001 a0025c0026 a0027c0027 a0001c0001 a0025c0026 a0027c0027	a0001c0001t0001 a0025c0026t0001 a0027c0027t0001 a0001c0001t0001 a0025c0026t0001 a0027c0027t0001	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0184 a0025c0026t0001g0075 a0027c0027t0001g0150	8	306	0.0261	10	c.576 others(27): Show c.5764+189_5764+198dupTATATATATA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	23/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIP1_chr11_8906189_8925079	8910709	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01168.hp1 others(9): Show HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01517.hp1 HG02080.hp1 HG02083.hp2 HG02602.hp1 HG02886.hp2 NA19001.hp1 NA19003.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0093 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0093 a0001c0001t0002g0125 a0001c0001t0002g0151	12	420	0.0286	10	c.-52 others(19): Show c.-521_-520insGTGTGTGTGT	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		479		chr11	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG03710.hp2 others(2): Show HG02109.hp1 HG03139.hp2 HG03710.hp2 HG06807.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	5	426	0.0117	10	c.220 others(27): Show c.220+3097_220+3106dupTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 NA18995.hp1 others(1): Show HG02055.hp2 HG02723.hp2 NA18995.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0021g0303 others(1): Show a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0021g0303 a0001c0001t0021g0311	4	406	0.0099	10	c.530 others(25): Show c.530-675_530-666dupGTGTGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108853136	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG04228.hp2 others(1): Show HG00140.hp1 HG01243.hp1 HG04228.hp2 NA19005.hp1	a0006 a0007 a0014 a0006 a0007 a0014	a0006c0028 a0007c0021 a0014c0071 a0006c0028 a0007c0021 a0014c0071	a0006c0028t0004 a0007c0021t0005 a0014c0071t0004 a0006c0028t0004 a0007c0021t0005 a0014c0071t0004	a0006c0028t0004g0098 a0007c0021t0005g0034 a0007c0021t0005g0036 others(1): Show a0006c0028t0004g0098 a0007c0021t0005g0034 a0007c0021t0005g0036 a0014c0071t0004g0097	4	398	0.0101	10	c.-10 others(27): Show c.-103-379_-103-370dupAAAAAAAAAA	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	1/15			chr1	TogoVar
AKNA_chr9_114329156_114392982	114372964	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG02818.hp1 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0341 a0005c0005t0008g0342 a0005c0005t0008g0341 a0005c0005t0008g0342	2	388	0.0052	10	c.141 others(29): Show c.1416+1119_1416+1128dupCCCCCCCCCC	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	4/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114372967	G G	GGGGGGGG others(3): Show GGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03195.hp1 HG01192.hp2 HG03195.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0020 a0005c0014t0020	a0005c0014t0020g0020 a0005c0014t0020g0020	2	388	0.0052	10	c.141 others(29): Show c.1416+1125_1416+1126insTCCCCCCCCC	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	4/21			chr9	TogoVar
AKR1A1_chr1_45545826_45575049	45549000	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	352	0.0028	10	c.-21 others(21): Show c.-2162_-2161insTTTTTTTTTT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding		1825		chr1	TogoVar
AKR1B10_chr7_134522567_134546412	134527045	C C	CCTTCCTT others(3): Show CCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0009	1	448	0.0022	10	c.-86 others(19): Show c.-867_-866insCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		521		chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134562890	C C	CTTTCTTT others(3): Show CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	404	0.0025	10	c.-22 others(27): Show c.-22-1708_-22-1707insTTTCTTTCTT	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11			chr7	TogoVar
AKR1C1_chr10_4958415_4988283	4961860	T T	TACAGGTG others(3): Show TACAGGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(26): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01258.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02083.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18954.hp2 NA18974.hp2 NA19005.hp2 NA19065.hp2 NA19074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 others(8): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0032 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0167 a0001c0010t0082	a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0096 others(14): Show a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0013g0036 a0001c0001t0013g0037 a0001c0001t0016g0004 a0001c0001t0032g0004 a0001c0001t0073g0004 a0001c0001t0074g0004 a0001c0001t0076g0004 a0001c0001t0079g0004 a0001c0001t0080g0004 a0001c0001t0167g0092 a0001c0010t0082g0010	29	426	0.0681	10	c.-15 others(21): Show c.-1585_-1584insACAGGTGTGA	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding		1554		chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5202939	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02602.hp1 others(4): Show HG00558.hp1 HG02027.hp2 HG02602.hp1 HG02723.hp2 NA18987.hp2 NA19010.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0196 a0001c0001t0001g0211	7	434	0.0161	10	c.253 others(27): Show c.253-1404_253-1395dupGTGTGTGTGT	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp1 HG02015.hp2 others(9): Show HG01074.hp2 HG01358.hp1 HG02015.hp2 HG02074.hp1 HG02647.hp1 NA18956.hp1 NA18964.hp1 NA18980.hp1 NA19003.hp1 NA19006.hp1 NA19054.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0061 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0061 a0001c0001t0066	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0047 others(7): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0003g0340 a0001c0001t0012g0081 a0001c0001t0061g0221 a0001c0001t0066g0341	12	426	0.0282	10	c.456 others(27): Show c.456+2166_456+2175dupAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR7A2_chr1_19298965_19317144	19316353	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	460	0.0022	10	c.-42 others(21): Show c.-4239_-4230dupCACACACACA	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding		4210		chr1	TogoVar
AKT2_chr19_40225317_40290345	40254167	G G	GATCATCT others(3): Show GATCATCTTCT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	360	0.0028	10	c.287 others(25): Show c.287+990_287+991insAGAAGATGAT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/13			chr19	TogoVar
AKT2_chr19_40225317_40290345	40257586	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG01257.hp1 others(8): Show HG00544.hp1 HG01175.hp2 HG01257.hp1 HG01496.hp2 HG02647.hp1 HG02896.hp2 HG02976.hp1 HG03209.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0220 a0001c0001t0001g0258 a0001c0001t0004g0114 others(7): Show a0001c0001t0001g0220 a0001c0001t0001g0258 a0001c0001t0004g0114 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0252 a0001c0001t0010g0004 a0001c0001t0010g0115 a0001c0001t0018g0218 a0001c0001t0018g0239	11	360	0.0306	10	c.47- others(23): Show c.47-542_47-533dupGTGTGTGTGT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	2/13			chr19	TogoVar
AKT3_chr1_243494724_243855243	243523260	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	301	0.0033	10	c.125 others(31): Show c.1252-10844_1252-10835dupGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243526778	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02723.hp1 HG02056.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0001g0050 a0001c0001t0001g0094	2	301	0.0066	10	c.125 others(31): Show c.1252-14353_1252-14352insTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243609334	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp2 others(5): Show HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG02738.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0085 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0035g0087	8	301	0.0266	10	c.696 others(27): Show c.696+4327_696+4336dupCACACACACA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01981.hp1 others(6): Show HG01106.hp1 HG01192.hp1 HG01981.hp1 HG02486.hp1 HG03139.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0042	a0001c0001t0001g0257 a0001c0001t0002g0064 a0001c0001t0002g0066 others(6): Show a0001c0001t0001g0257 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0193 a0001c0001t0003g0031 a0001c0001t0003g0277 a0001c0001t0003g0279 a0001c0001t0031g0195 a0001c0001t0042g0165	9	301	0.0299	10	c.172 others(27): Show c.172+8951_172+8960dupATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18983.hp2 NA18998.hp2 HG02155.hp2 NA18983.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0008g0192 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0008g0192	3	301	0.0100	10	c.172 others(27): Show c.172+8939_172+8940insAATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693242	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG01884.hp2 others(5): Show HG00423.hp1 HG01192.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02717.hp2 HG04228.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0214 others(5): Show a0001c0001t0001g0147 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0253 a0001c0001t0004g0024 a0001c0001t0005g0290 a0001c0001t0005g0294	8	301	0.0266	10	c.172 others(27): Show c.172+2348_172+2349insTATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG01346.hp1 others(9): Show HG00609.hp1 HG01261.hp1 HG01346.hp1 HG02071.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp2 HG03704.hp1 NA18959.hp1 NA18984.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0042	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 others(9): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0172 a0001c0001t0002g0069 a0001c0001t0002g0155 a0001c0001t0002g0179 a0001c0001t0002g0197 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0011g0180 a0001c0001t0042g0165	12	301	0.0399	10	c.47- others(25): Show c.47-3759_47-3750dupTATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243701655	A A	AGAAAAAA others(3): Show AGAAAAAATGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	301	0.0033	10	c.47- others(25): Show c.47-5949_47-5940dupGCATTTTTTC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243832120	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	301	0.0033	10	c.46+ others(27): Show c.46+10995_46+11004dupTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKTIP_chr16_53486040_53508209	53501703	G G	GTACCCAA others(3): Show GTACCCAACCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	386	0.0026	10	c.-70 others(27): Show c.-70-1384_-70-1375dupGGGTTGGGTA	AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding	1/9			chr16	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00741.hp2 others(12): Show HG00280.hp2 HG00639.hp1 HG00741.hp2 HG01175.hp1 HG01517.hp1 HG02280.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03239.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0012t0003	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0084 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0084 a0001c0001t0001g0173 a0001c0001t0001g0296 a0001c0001t0004g0192 a0001c0002t0001g0015 a0001c0002t0001g0050 a0001c0002t0001g0276 a0001c0002t0001g0297 a0001c0002t0004g0103 a0001c0012t0003g0239	15	446	0.0336	10	c.65 others(21): Show c.6539_*6540insAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALAD_chr9_113381312_113406284	113404385	T T	TCCCCCCC others(3): Show TCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	446	0.0022	10	c.-32 others(21): Show c.-3250_-3249insGGGGGGGGGG	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		3102		chr9	TogoVar
ALAS2_chrX_55004055_55035977	55015959	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	284	0.0035	10	c.100 others(27): Show c.1004-227_1004-218dupCACACACACA	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	7/10			chrX	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp1 HG02015.hp2 others(9): Show HG00558.hp1 HG01243.hp1 HG02015.hp2 HG02258.hp2 HG03516.hp2 NA18747.hp2 NA18975.hp2 NA18985.hp2 NA19057.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0009 a0001c0006t0001 a0002c0004t0002	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(9): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0002t0009g0176 a0001c0002t0009g0178 a0001c0006t0001g0177 a0002c0004t0002g0168 a0002c0004t0002g0169 a0002c0004t0002g0179	12	378	0.0318	10	c.73+ others(23): Show c.73+774_73+783dupGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105454653	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	378	0.0027	10	c.74- others(27): Show c.74-65389_74-65380dupTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105470132	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02896.hp2 HG03486.hp2 others(1): Show HG01081.hp1 HG02896.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0335 a0001c0002t0003g0371 others(1): Show a0001c0002t0003g0320 a0001c0002t0003g0335 a0001c0002t0003g0371 a0001c0002t0003g0372	4	378	0.0106	10	c.74- others(27): Show c.74-49913_74-49904dupCACACACACA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105496827	G G	GGGGTGTG others(3): Show GGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03017.hp1 HG01168.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0330 a0001c0001t0001g0331	2	378	0.0053	10	c.74- others(27): Show c.74-23239_74-23238insGGTGTGTGTG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01975.hp1 others(17): Show HG00280.hp2 HG00323.hp2 HG01975.hp1 HG02015.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02683.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03492.hp1 HG03834.hp1 NA18942.hp2 NA18954.hp1 NA19043.hp1 NA19058.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008	a0001c0001t0004g0024 a0001c0001t0004g0154 a0001c0001t0004g0220 others(17): Show a0001c0001t0004g0024 a0001c0001t0004g0154 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0257 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0281 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0305 a0001c0001t0005g0013 a0001c0001t0005g0064 a0001c0001t0005g0134 a0001c0002t0001g0071 a0001c0002t0001g0151 a0001c0002t0003g0368 a0001c0002t0007g0164 a0001c0002t0008g0314	20	378	0.0529	10	c.166 others(29): Show c.1665-8163_1665-8154dupTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95655681	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	372	0.0027	10	c.-29 others(25): Show c.-29+906_-29+915dupACACACACAC	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	1/17			chr10	TogoVar

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