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
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG02970.hp2 others(5): Show HG00280.hp2 HG01243.hp1 HG02970.hp2 HG03130.hp2 HG03654.hp2 HG03710.hp1 HG04228.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0010 a0001c0003 a0007c0010	a0001c0003t0001 a0007c0010t0001 a0001c0003t0001 a0007c0010t0001	a0001c0003t0001g0009 a0001c0003t0001g0084 a0001c0003t0001g0086 others(2): Show a0001c0003t0001g0009 a0001c0003t0001g0084 a0001c0003t0001g0086 a0001c0003t0001g0092 a0007c0010t0001g0089	8	434	0.0184	16	c.26 others(27): Show c.2641_*2642insAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5156525	G G	GATCTATC others(9): Show GATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp1 HG02145.hp2 others(10): Show HG01070.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp1 HG03927.hp1 HG04115.hp1 NA19030.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0006 a0004c0005 a0002c0003 a0003c0006 a0004c0005	a0002c0003t0001 a0002c0003t0006 a0003c0006t0002 others(1): Show a0002c0003t0001 a0002c0003t0006 a0003c0006t0002 a0004c0005t0004	a0002c0003t0001g0016 a0002c0003t0001g0231 a0002c0003t0001g0232 others(7): Show a0002c0003t0001g0016 a0002c0003t0001g0231 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0006g0239 a0003c0006t0002g0066 a0004c0005t0004g0164	13	408	0.0319	16	c.856 others(31): Show c.856-784_856-769dupAGATAGATAGATAGAT	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/8			chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5156554	A A	ATCTATCT others(9): Show ATCTATCTATCTATCTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18990.hp2 NA19000.hp1 NA18974.hp1 NA18990.hp2 NA19000.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0075 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0075 a0003c0004t0002g0079 a0003c0004t0002g0080	3	408	0.0074	16	c.856 others(31): Show c.856-798_856-797insAAGATAGATAGATAGA	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/8			chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG03540.hp1 others(1): Show HG02027.hp2 HG02080.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0094 a0001c0001t0003g0016 a0001c0001t0008g0067 a0001c0001t0001g0094 a0001c0001t0003g0016 a0001c0001t0008g0067	4	426	0.0094	16	c.456 others(33): Show c.456+2160_456+2175dupAAAAAAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT2_chr19_40225317_40290345	40290248	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG06807.hp1 HG02965.hp2 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	3	360	0.0083	16	c.-51 others(27): Show c.-5153_-5152insATTTATTTATTTATTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		4904		chr19	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAAG others(9): Show TAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00673.hp1 others(46): Show HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03490.hp1 HG03831.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA19003.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0025 a0001c0001t0045	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 others(46): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0172 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0002g0160 a0001c0001t0002g0189 a0001c0001t0002g0229 a0001c0001t0004g0013 a0001c0001t0006g0173 a0001c0001t0006g0282 a0001c0001t0007g0266 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0009g0001 a0001c0001t0011g0235 a0001c0001t0014g0026 a0001c0001t0025g0010 a0001c0001t0045g0187	49	301	0.1628	16	c.125 others(37): Show c.1252-13358_1252-13343dupTCTTTCTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243526778	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	301	0.0033	16	c.125 others(37): Show c.1252-14353_1252-14352insTTTTTTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527902	C C	CAAGACTC others(9): Show CAAGACTCCATCTCTTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	301	0.0033	16	c.125 others(37): Show c.1252-15477_1252-15476insTAAGAGATGGAGTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243583195	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0058 a0001c0001t0044g0058	1	301	0.0033	16	c.697 others(35): Show c.697-10148_697-10147insGTATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	8/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18948.hp2 NA18955.hp1 others(4): Show HG01070.hp1 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18984.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0001 a0001c0001t0002 a0001c0001t0019	a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0229 a0001c0001t0019g0269	7	301	0.0233	16	c.172 others(33): Show c.172+8945_172+8960dupATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp1 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0291 a0001c0001t0021g0287 a0001c0001t0005g0291 a0001c0001t0021g0287	2	301	0.0066	16	c.172 others(33): Show c.172+8939_172+8940insAAAATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01257.hp1 others(5): Show HG00099.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG02135.hp2 NA18952.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0042 a0001c0001t0002g0157 a0001c0001t0002g0159 others(5): Show a0001c0001t0001g0042 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0189 a0001c0001t0005g0294 a0001c0001t0006g0183 a0001c0001t0007g0190 a0001c0001t0017g0166	8	301	0.0266	16	c.47- others(31): Show c.47-3765_47-3750dupTATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381412	C C	CCTCCCTC others(9): Show CCTCCCTCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0076 a0001c0002t0019g0076	1	446	0.0022	16	c.68 others(27): Show c.6887_*6888insAGAGAGAGGGAGGGAG	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4899		chr9	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01243.hp1 others(12): Show HG00323.hp2 HG01099.hp1 HG01243.hp1 HG01261.hp1 HG02559.hp1 HG02572.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp2 NA18971.hp1 NA18990.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0012 a0001c0002t0021 a0001c0003t0001 a0001c0003t0011	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0162 a0001c0001t0001g0240 a0001c0001t0007g0065 a0001c0002t0001g0005 a0001c0002t0001g0273 a0001c0002t0012g0247 a0001c0002t0021g0078 a0001c0003t0001g0229 a0001c0003t0011g0286	15	446	0.0336	16	c.65 others(27): Show c.6539_*6540insAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01168.hp2 others(14): Show HG00099.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp2 HG02027.hp1 HG03453.hp1 HG03490.hp2 NA18949.hp2 NA18959.hp2 NA18979.hp1 NA18982.hp1 NA19007.hp2 NA19064.hp1 NA19080.hp2 NA19086.hp1 NA19089.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0004c0007t0001	a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 others(14): Show a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0341 a0001c0001t0004g0023 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0231 a0001c0002t0003g0203 a0001c0002t0003g0340 a0001c0003t0002g0014 a0001c0003t0002g0036 a0004c0007t0001g0208	17	378	0.0450	16	c.73+ others(29): Show c.73+768_73+783dupGAGAGAGAGAGAGAGA	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(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	378	0.0027	16	c.74- others(33): Show c.74-49919_74-49904dupCACACACACACACACA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105486957	C C	CATTTATT others(9): Show CATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(141): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0009t0002 a0001c0011t0010 a0001c0015t0001 a0002c0004t0002	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 others(140): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0278 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0360 a0001c0001t0001g0373 a0001c0001t0004g0023 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0192 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0230 a0001c0001t0004g0237 a0001c0001t0004g0257 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0319 a0001c0001t0005g0064 a0001c0001t0005g0119 a0001c0001t0005g0244 a0001c0001t0005g0350 a0001c0001t0007g0236 a0001c0001t0007g0238 a0001c0001t0007g0256 a0001c0001t0024g0149 a0001c0002t0001g0051 a0001c0002t0001g0071 a0001c0002t0001g0300 a0001c0002t0003g0005 a0001c0002t0003g0027 a0001c0002t0003g0093 a0001c0002t0003g0313 a0001c0002t0003g0318 a0001c0002t0003g0320 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0340 a0001c0002t0003g0371 a0001c0002t0003g0372 a0001c0002t0007g0164 a0001c0002t0008g0155 a0001c0002t0008g0280 a0001c0002t0008g0314 a0001c0002t0009g0176 a0001c0002t0009g0178 a0001c0002t0009g0188 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0050 a0001c0003t0001g0072 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0359 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0031 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0073 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0090 a0001c0003t0002g0092 a0001c0003t0002g0200 a0001c0006t0001g0177 a0001c0009t0002g0076 a0001c0009t0002g0084 a0001c0011t0010g0345 a0001c0011t0010g0354 a0001c0015t0001g0332 a0002c0004t0002g0055	144	378	0.3810	16	c.74- others(33): Show c.74-33100_74-33085dupTTTATTTATTTATTTA	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(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01081.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0263 a0001c0002t0003g0335 a0001c0002t0003g0263 a0001c0002t0003g0335	2	378	0.0053	16	c.166 others(35): Show c.1665-8169_1665-8154dupTTTTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95604064	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	372	0.0027	16	c.26 others(27): Show c.2697_*2698insACACACACACACACAC	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding		1876		chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72908504	G G	GATGAAAG others(9): Show GATGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03471.hp1 HG01255.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0135 a0001c0001t0001g0136	2	306	0.0065	16	c.135 others(35): Show c.1358+1097_1358+1098insTCTTTCTTTCTTTCAT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0043 a0002c0002t0003g0043	1	326	0.0031	16	c.148 others(35): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCGCACAC others(9): Show GCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(82): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18969.hp2 NA18972.hp1 NA18984.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19062.hp2 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0002 a0002c0002t0006 others(4): Show a0001c0001t0018 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020	a0001c0001t0018g0255 a0002c0002t0002g0003 a0002c0002t0002g0058 others(81): Show a0001c0001t0018g0255 a0002c0002t0002g0003 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0264 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0320 a0002c0002t0006g0081 a0002c0002t0006g0118 a0002c0002t0006g0143 a0002c0002t0006g0144 a0002c0002t0010g0090 a0002c0002t0011g0093 a0002c0002t0011g0096 a0002c0002t0019g0059 a0002c0002t0020g0088	85	326	0.2607	16	c.148 others(35): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGCG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCGCGCAC others(9): Show GCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	326	0.0031	16	c.148 others(35): Show c.1484+2555_1484+2556insTGTGTGTGTGTGCGCG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57981289	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	326	0.0031	16	c.798 others(35): Show c.798+11400_798+11415dupGTGTGTGTGTGTGTGT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58004693	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	2	326	0.0061	16	c.493 others(33): Show c.493+5955_493+5956insCACACACACACACACA	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	4/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58004719	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	326	0.0031	16	c.493 others(33): Show c.493+5929_493+5930insTATACACACACACACA	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	4/12			chr15	TogoVar
ALDH1L1_chr3_126098570_126185586	126179498	T T	TCAAACAA others(9): Show TCAAACAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02055.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0125 a0001c0007t0001g0126 a0001c0001t0001g0125 a0001c0007t0001g0126	2	338	0.0059	16	c.-24 others(31): Show c.-24+962_-24+977dupTTTGTTTGTTTGTTTG	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	1/22			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105046221	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0359 a0001c0001t0026g0359	1	386	0.0026	16	c.186 others(33): Show c.1863+488_1863+489insAAAATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105064114	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0022	a0003c0005t0022g0308 a0003c0005t0022g0308	1	386	0.0026	16	c.787 others(33): Show c.787-1108_787-1093dupAAAAAAAAAAAAAAAA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	6/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03831.hp1 NA18975.hp2 others(3): Show HG00673.hp1 HG03831.hp1 NA18975.hp2 NA18991.hp2 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0037	a0001c0001t0001g0189 a0001c0001t0003g0114 a0001c0001t0003g0115 others(3): Show a0001c0001t0001g0189 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0141 a0001c0001t0004g0229 a0001c0002t0037g0190	6	386	0.0155	16	c.194 others(31): Show c.194-839_194-838insAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03834.hp1 NA19090.hp2 HG02723.hp2 HG03834.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0003 a0006c0009t0001 a0001c0001t0003 a0006c0009t0001	a0001c0001t0003g0104 a0001c0001t0003g0105 a0006c0009t0001g0231 a0001c0001t0003g0104 a0001c0001t0003g0105 a0006c0009t0001g0231	3	386	0.0078	16	c.194 others(31): Show c.194-839_194-838insAAAATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	386	0.0026	16	c.194 others(31): Show c.194-839_194-838insAAAAAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0096 a0003c0005t0003g0096	1	386	0.0026	16	c.194 others(31): Show c.194-839_194-838insAAAAAAAATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3A1_chr17_19732989_19753298	19746692	T T	TGCATGTG others(9): Show TGCATGTGCGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02976.hp2 HG02451.hp2 HG02615.hp2 HG02976.hp2	a0002 a0007 a0002 a0007	a0002c0012 a0007c0011 a0002c0012 a0007c0011	a0002c0012t0005 a0007c0011t0005 a0002c0012t0005 a0007c0011t0005	a0002c0012t0005g0058 a0007c0011t0005g0095 a0007c0011t0005g0096 a0002c0012t0005g0058 a0007c0011t0005g0095 a0007c0011t0005g0096	3	424	0.0071	16	c.-5- others(31): Show c.-5-1559_-5-1558insGCACACACGCACATGC	ALDH3A1	ENSG00000108602.18	transcript	ENST00000225740.11	protein_coding	1/10			chr17	TogoVar
ALDH3A2_chr17_19643751_19682596	19665376	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01516.hp1 HG03471.hp1 others(1): Show HG00642.hp1 HG01516.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0003t0004g0024 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0003t0004g0024	4	366	0.0109	16	c.120 others(33): Show c.1207+347_1207+362dupTGTGTGTGTGTGTGTG	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALDH3B1_chr11_68005327_68034276	68030111	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03130.hp2 NA18957.hp2 others(2): Show HG02074.hp2 HG03130.hp2 NA18957.hp2 NA18983.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0005 a0001c0002t0003g0030 a0001c0002t0003g0031	5	374	0.0134	16	c.21 others(27): Show c.2172_*2173insAAAAAAAAAAAAAAAA	ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding		836		chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67672042	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	390	0.0026	16	c.-24 others(35): Show c.-245+2378_-245+2393dupATATATATATATATAT	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01081.hp1 others(81): Show HG00423.hp1 HG00609.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01934.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18941.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19030.hp1 NA19059.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008 a0002c0009 a0003c0006 a0003c0034 a0003c0037	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0004t0002 a0001c0004t0009 a0001c0004t0019 a0002c0008t0004 a0002c0009t0004 a0003c0006t0002 a0003c0034t0017 a0003c0037t0017	a0001c0001t0001g0136 a0001c0001t0005g0015 a0001c0001t0005g0269 others(66): Show a0001c0001t0001g0136 a0001c0001t0005g0015 a0001c0001t0005g0269 a0001c0001t0005g0315 a0001c0001t0005g0320 a0001c0002t0001g0030 a0001c0002t0001g0296 a0001c0003t0002g0010 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0075 a0001c0003t0002g0098 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0117 a0001c0003t0002g0123 a0001c0003t0002g0138 a0001c0003t0002g0163 a0001c0003t0002g0165 a0001c0003t0002g0168 a0001c0003t0002g0191 a0001c0003t0002g0195 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0216 a0001c0003t0002g0224 a0001c0003t0002g0243 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0263 a0001c0003t0002g0297 a0001c0003t0002g0324 a0001c0003t0002g0325 a0001c0004t0002g0024 a0001c0004t0002g0026 a0001c0004t0002g0038 a0001c0004t0002g0050 a0001c0004t0002g0080 a0001c0004t0002g0107 a0001c0004t0002g0109 a0001c0004t0002g0155 a0001c0004t0002g0174 a0001c0004t0002g0205 a0001c0004t0002g0220 a0001c0004t0002g0225 a0001c0004t0002g0238 a0001c0004t0002g0283 a0001c0004t0002g0286 a0001c0004t0002g0290 a0001c0004t0002g0299 a0001c0004t0002g0307 a0001c0004t0002g0310 a0001c0004t0009g0029 a0001c0004t0009g0060 a0001c0004t0009g0270 a0001c0004t0019g0059 a0001c0004t0019g0173 a0002c0008t0004g0176 a0002c0008t0004g0178 a0002c0009t0004g0008 a0002c0009t0004g0189 a0003c0006t0002g0027 a0003c0006t0002g0159 a0003c0006t0002g0257 a0003c0006t0002g0274 a0003c0034t0017g0308 a0003c0037t0017g0058	84	406	0.2069	16	c.118 others(33): Show c.1186-210_1186-195dupCACACACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24506243	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 HG01993.hp2 HG01169.hp2 HG01257.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0023 a0001c0001t0001 a0001c0009t0023	a0001c0001t0001g0175 a0001c0001t0001g0237 a0001c0009t0023g0243 a0001c0001t0001g0175 a0001c0001t0001g0237 a0001c0009t0023g0243	3	368	0.0082	16	c.726 others(33): Show c.726+1273_726+1288dupTTTTTTTTTTTTTTTT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02074.hp1 HG03098.hp1 others(3): Show HG01261.hp2 HG02074.hp1 HG03098.hp1 HG03831.hp2 NA18946.hp1 NA18974.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005	a0001c0001t0001 a0002c0002t0026 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0026 a0003c0003t0001 a0003c0005t0001	a0001c0001t0001g0247 a0002c0002t0026g0069 a0003c0003t0001g0033 others(3): Show a0001c0001t0001g0247 a0002c0002t0026g0069 a0003c0003t0001g0033 a0003c0003t0001g0050 a0003c0003t0001g0116 a0003c0005t0001g0027	6	368	0.0163	16	c.726 others(33): Show c.726+3388_726+3403dupAAAAAAAAAAAAAAAA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03195.hp1 others(2): Show HG01884.hp1 HG01891.hp1 HG03195.hp1 HG03225.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0341 a0002c0002t0003g0342 a0002c0002t0003g0343 others(2): Show a0002c0002t0003g0341 a0002c0002t0003g0342 a0002c0002t0003g0343 a0002c0002t0003g0344 a0002c0002t0003g0345	5	368	0.0136	16	c.101 others(33): Show c.1015-278_1015-263dupGTGTGTGTGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24522501	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	368	0.0027	16	c.101 others(33): Show c.1015-263_1015-262insGTGTGTGTGTGTATGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG10B_chr12_38311774_38334721	38333759	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG02055.hp2 others(12): Show HG00423.hp1 HG00741.hp1 HG02055.hp2 HG02071.hp1 HG02148.hp2 HG02451.hp1 HG02698.hp1 HG03130.hp1 NA18965.hp2 NA18968.hp1 NA18976.hp2 NA19006.hp2 NA19060.hp1 NA19068.hp1 NA21309.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005 a0012c0016	a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 others(5): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0003t0003 a0003c0005t0019 a0012c0016t0002	a0001c0001t0005g0002 a0001c0001t0006g0010 a0001c0002t0002g0003 others(5): Show a0001c0001t0005g0002 a0001c0001t0006g0010 a0001c0002t0002g0003 a0001c0002t0008g0003 a0001c0002t0016g0003 a0001c0003t0003g0004 a0003c0005t0019g0001 a0012c0016t0002g0003	15	452	0.0332	16	c.12 others(29): Show c.12546_*12547insTGTGTGTGTGTGTGTG	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4039		chr12	TogoVar
ALG10B_chr12_38311774_38334721	38334009	A A	AATTTAAA others(9): Show AATTTAAAGCTTGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG03654.hp1 others(1): Show HG01106.hp2 HG01358.hp1 HG03654.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	4	452	0.0089	16	c.12 others(29): Show c.12796_*12797insATTTAAAGCTTGCATT	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4289		chr12	TogoVar
ALG1L2_chr3_130076831_130103390	130080282	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA19009.hp1 NA21309.hp2 HG00323.hp1 NA19009.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0002c0002t0001g0019 a0002c0002t0001g0020 a0001c0001t0001g0024 a0002c0002t0001g0019 a0002c0002t0001g0020	3	261	0.0115	16	c.-17 others(27): Show c.-1735_-1734insTTTTTTTTTTTTTTTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1548		chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130084944	A A	AATTTTAT others(9): Show AATTTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG03225.hp1 HG02559.hp2 HG02895.hp2 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042	3	261	0.0115	16	c.20+ others(31): Show c.20+2908_20+2909insATTTTATTTATTTATT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	1/7			chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130084948	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp1 HG02922.hp1 others(3): Show HG01069.hp2 HG01255.hp1 HG02922.hp1 HG03041.hp2 HG06807.hp1 NA18522.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0003c0011 others(1): Show a0002c0002 a0003c0005 a0003c0011 a0005c0009	a0002c0002t0001 a0003c0005t0001 a0003c0011t0001 others(2): Show a0002c0002t0001 a0003c0005t0001 a0003c0011t0001 a0005c0009t0001 a0005c0009t0005	a0002c0002t0001g0083 a0002c0002t0001g0084 a0003c0005t0001g0043 others(3): Show a0002c0002t0001g0083 a0002c0002t0001g0084 a0003c0005t0001g0043 a0003c0011t0001g0036 a0005c0009t0001g0150 a0005c0009t0005g0046	6	261	0.0230	16	c.20+ others(31): Show c.20+2924_20+2939dupATTTATTTATTTATTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01109.hp2 others(10): Show HG00733.hp1 HG00735.hp2 HG01109.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG02056.hp1 HG04228.hp2 NA18995.hp1 NA19003.hp1 NA19058.hp2 NA19068.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0259 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0331 a0001c0001t0001g0340	13	402	0.0323	16	c.-37 others(27): Show c.-3730_-3729insGTGTGTGTGTGTGTGT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0126 a0003c0003t0001g0126	1	314	0.0032	16	c.895 others(33): Show c.895+2658_895+2673dupTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102467169	G G	GGTGTGTG others(9): Show GGTGTGTGTGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18983.hp2 HG03041.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0091 a0001c0001t0001g0056 a0001c0001t0001g0091	2	404	0.0050	16	c.-23 others(27): Show c.-2334_-2333insACACATACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2307		chr7	TogoVar

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