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
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(7): Show CATGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03486.hp1 HG03927.hp1 others(1): Show HG02809.hp1 HG03486.hp1 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0234 a0001c0001t0002g0044 a0001c0001t0002g0070 others(1): Show a0001c0001t0001g0234 a0001c0001t0002g0044 a0001c0001t0002g0070 a0001c0003t0002g0048	4	332	0.0121	14	c.-50 others(25): Show c.-5004_-5003insACACACACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03516.hp2 NA18965.hp1 others(2): Show HG02280.hp2 HG03516.hp2 NA18965.hp1 NA18972.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0162 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0223 a0002c0002t0002g0110	5	332	0.0151	14	c.-50 others(25): Show c.-5004_-5003insACACACACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG03486.hp2 HG02109.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0052 a0001c0001t0000g0094 a0001c0001t0000g0122 a0001c0001t0000g0052 a0001c0001t0000g0094 a0001c0001t0000g0122	3	418	0.0072	14	c.336 others(31): Show c.336-1311_336-1298dupAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00642.hp2 others(28): Show HG00544.hp1 HG00544.hp2 HG00642.hp2 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02602.hp2 HG02698.hp2 HG03491.hp1 HG04184.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18961.hp2 NA18963.hp2 NA18974.hp2 NA18980.hp2 NA18993.hp2 NA18994.hp2 NA19001.hp1 NA19011.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 others(28): Show a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0237 a0001c0001t0002g0307 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0007g0027 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0025g0392	31	406	0.0764	14	c.-18 others(31): Show c.-187-504_-187-491dupTTTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0299 a0001c0001t0004g0299	1	406	0.0025	14	c.-18 others(33): Show c.-187-7427_-187-7426insCACACACACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	406	0.0025	14	c.-18 others(33): Show c.-187-7489_-187-7476dupCACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01169.hp2 others(4): Show HG01099.hp1 HG01167.hp2 HG01169.hp2 HG03834.hp2 HG04228.hp2 NA18966.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0016 a0001c0002t0003 a0001c0002t0012 others(1): Show a0001c0001t0016 a0001c0002t0003 a0001c0002t0012 a0003c0004t0006	a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0002t0003g0066 others(4): Show a0001c0001t0016g0056 a0001c0001t0016g0072 a0001c0002t0003g0066 a0001c0002t0012g0016 a0001c0002t0012g0024 a0003c0004t0006g0225 a0003c0004t0006g0228	7	406	0.0172	14	c.-18 others(35): Show c.-188+11729_-188+11730insAAAAAATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01099.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0013	a0001c0001t0007 a0001c0001t0020 a0001c0002t0003 others(8): Show a0001c0001t0007 a0001c0001t0020 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0002c0003t0008 a0003c0004t0006 a0006c0013t0008	a0001c0001t0007g0017 a0001c0001t0007g0034 a0001c0001t0007g0046 others(57): Show a0001c0001t0007g0017 a0001c0001t0007g0034 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0020g0026 a0001c0002t0003g0001 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0080 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0005g0099 a0001c0002t0005g0108 a0001c0002t0005g0112 a0001c0002t0006g0004 a0001c0002t0006g0211 a0001c0002t0006g0222 a0001c0002t0012g0022 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0018 a0001c0002t0015g0051 a0002c0003t0008g0041 a0002c0003t0008g0042 a0002c0003t0008g0048 a0003c0004t0006g0224 a0003c0004t0006g0226 a0003c0004t0006g0227 a0006c0013t0008g0052	62	406	0.1527	14	c.-18 others(35): Show c.-188+11729_-188+11730insAAAAAAAATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG02451.hp1 others(3): Show HG00733.hp1 HG01081.hp1 HG02451.hp1 NA18940.hp2 NA18999.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0002t0006 a0001c0001t0007 a0001c0002t0003 a0001c0002t0006	a0001c0001t0007g0027 a0001c0002t0003g0030 a0001c0002t0003g0031 others(3): Show a0001c0001t0007g0027 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0006g0221	6	406	0.0148	14	c.-18 others(35): Show c.-188+11729_-188+11730insAAAAAAAAAATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AAAS_chr12_53302460_53326610	53318223	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	330	0.0030	14	c.251 others(31): Show c.251+2328_251+2341dupACACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318239	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	330	0.0030	14	c.251 others(31): Show c.251+2325_251+2326insGCACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318247	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18982.hp2 HG01255.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0185 a0001c0001t0001g0116 a0001c0001t0001g0185	2	330	0.0061	14	c.251 others(31): Show c.251+2317_251+2318insGCACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761204	G G	GATATATA others(7): Show GATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA19005.hp1 NA18941.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0058 a0001c0001t0052 a0002c0002t0058	a0001c0001t0052g0006 a0002c0002t0058g0003 a0001c0001t0052g0006 a0002c0002t0058g0003	2	428	0.0047	14	c.36 others(25): Show c.3635_*3648dupATATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3649	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TATACACA others(7): Show TATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 NA20752.hp1 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0022 a0001c0001t0001g0025	2	440	0.0046	14	c.32 others(25): Show c.3210_*3211insATACACACACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01255.hp2 HG02895.hp2 others(3): Show HG00609.hp2 HG01255.hp2 HG02895.hp2 NA18940.hp1 NA18966.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0055 a0002c0002t0003g0191 a0002c0002t0003g0200 others(3): Show a0001c0001t0002g0055 a0002c0002t0003g0191 a0002c0002t0003g0200 a0002c0002t0003g0218 a0002c0002t0003g0221 a0002c0002t0003g0226	6	380	0.0158	14	c.535 others(31): Show c.535+9571_535+9572insTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(7): Show GCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	380	0.0026	14	c.535 others(31): Show c.535+9571_535+9572insTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG04184.hp1 HG00280.hp2 HG01515.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0174 a0002c0002t0003g0195 a0002c0002t0003g0161 a0002c0002t0003g0174 a0002c0002t0003g0195	3	380	0.0079	14	c.535 others(31): Show c.535+9531_535+9532insGGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02723.hp1 others(13): Show HG00438.hp1 HG00621.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG03579.hp1 NA18946.hp1 NA18953.hp1 NA18956.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19067.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0002c0002t0002	a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0002g0090 others(13): Show a0001c0001t0002g0063 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0006g0236 a0001c0001t0008g0018 a0002c0002t0002g0103 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126	16	380	0.0421	14	c.74- others(29): Show c.74-4234_74-4221dupGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18949.hp1 NA18942.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0248 a0001c0001t0004g0249	2	380	0.0053	14	c.73+ others(29): Show c.73+1285_73+1298dupCCCCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02015.hp1 HG02109.hp1 others(11): Show HG01934.hp2 HG02015.hp1 HG02109.hp1 HG02280.hp2 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG04228.hp1 HG06807.hp1 NA18956.hp1 NA18963.hp2 NA18992.hp1 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0026 a0001c0001 a0001c0009 a0001c0026	a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 others(10): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0037 a0001c0001t0045 a0001c0001t0077 a0001c0001t0101 a0001c0001t0121 a0001c0001t0138 a0001c0001t0139 a0001c0001t0143 a0001c0009t0125 a0001c0026t0152	a0001c0001t0006g0217 a0001c0001t0011g0197 a0001c0001t0020g0202 others(11): Show a0001c0001t0006g0217 a0001c0001t0011g0197 a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0037g0009 a0001c0001t0045g0287 a0001c0001t0077g0072 a0001c0001t0101g0118 a0001c0001t0121g0186 a0001c0001t0138g0209 a0001c0001t0139g0231 a0001c0001t0143g0198 a0001c0009t0125g0179 a0001c0026t0152g0295	14	298	0.0470	14	c.236 others(33): Show c.2366-5351_2366-5338dupACACACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(14): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG01361.hp2 HG01978.hp1 HG02698.hp1 HG02818.hp1 HG03710.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18967.hp1 NA18992.hp2 NA19056.hp1 NA19077.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0006 a0002c0002 a0002c0024 others(1): Show a0001c0006 a0002c0002 a0002c0024 a0006c0015	a0001c0006t0028 a0002c0002t0001 a0002c0002t0005 others(10): Show a0001c0006t0028 a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 a0002c0002t0049 a0002c0002t0054 a0002c0002t0055 a0002c0002t0062 a0002c0002t0085 a0002c0002t0115 a0002c0002t0129 a0002c0024t0060 a0006c0015t0013	a0001c0006t0028g0126 a0002c0002t0001g0025 a0002c0002t0001g0033 others(14): Show a0001c0006t0028g0126 a0002c0002t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0005g0235 a0002c0002t0013g0110 a0002c0002t0013g0112 a0002c0002t0049g0047 a0002c0002t0054g0030 a0002c0002t0055g0021 a0002c0002t0062g0054 a0002c0002t0085g0109 a0002c0002t0115g0180 a0002c0002t0129g0241 a0002c0024t0060g0031 a0006c0015t0013g0111	17	298	0.0571	14	c.227 others(33): Show c.2270-4598_2270-4585dupATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATACA others(7): Show TATATACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0142 a0001c0003t0142	a0001c0003t0142g0214 a0001c0003t0142g0214	1	298	0.0034	14	c.227 others(33): Show c.2270-4619_2270-4618insGTGTGTGTGTATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(7): Show TATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0248 a0002c0002t0005g0248	1	298	0.0034	14	c.227 others(33): Show c.2270-4619_2270-4618insGTGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02895.hp1 NA18943.hp2 others(1): Show HG01255.hp1 HG02895.hp1 NA18943.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0048 a0002c0002t0111 others(1): Show a0001c0001t0007 a0002c0002t0048 a0002c0002t0111 a0002c0002t0133	a0001c0001t0007g0081 a0002c0002t0048g0039 a0002c0002t0111g0173 others(1): Show a0001c0001t0007g0081 a0002c0002t0048g0039 a0002c0002t0111g0173 a0002c0002t0133g0210	4	298	0.0134	14	c.227 others(33): Show c.2270-4619_2270-4618insGTGTATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18961.hp1 NA18970.hp1 others(6): Show HG01175.hp1 NA18961.hp1 NA18970.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0041 a0002c0002t0001 a0002c0002t0005 others(6): Show a0001c0006t0041 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0002t0033 a0002c0002t0130 a0002c0002t0132 a0002c0002t0154 a0002c0002t0155	a0001c0006t0041g0008 a0002c0002t0001g0044 a0002c0002t0005g0240 others(6): Show a0001c0006t0041g0008 a0002c0002t0001g0044 a0002c0002t0005g0240 a0002c0002t0007g0018 a0002c0002t0033g0255 a0002c0002t0130g0243 a0002c0002t0132g0236 a0002c0002t0154g0297 a0002c0002t0155g0298	9	298	0.0302	14	c.227 others(33): Show c.2270-4619_2270-4618insGTATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640053	A A	ACACACTC others(7): Show ACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0025 a0003c0014t0025	a0003c0014t0025g0285 a0003c0014t0025g0285	1	298	0.0034	14	c.163 others(31): Show c.163+2824_163+2825insAGAGAGAGAGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01975.hp1 others(9): Show HG00735.hp1 HG01074.hp1 HG01975.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18966.hp1 NA19004.hp1 NA19011.hp2 NA19088.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0206 a0003c0005t0001g0112	12	382	0.0314	14	c.132 others(31): Show c.132+9600_132+9613dupAAAAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCCCTCTC others(7): Show CCCCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	2	298	0.0067	14	c.-37 others(25): Show c.-3736_-3735insCCCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	298	0.0034	14	c.-37 others(25): Show c.-3736_-3735insCTCTCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA18956.hp1 HG03130.hp1 NA18956.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0001 a0001c0002t0002 a0004c0008t0001	a0001c0002t0002g0147 a0004c0008t0001g0119 a0001c0002t0002g0147 a0004c0008t0001g0119	2	298	0.0067	14	c.23 others(25): Show c.2397_*2398insACACACACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AARS1_chr16_70247298_70294506	70249014	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02970.hp2 others(1): Show HG02258.hp2 HG02896.hp2 HG02970.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0349 a0002c0004t0001g0351 a0002c0004t0001g0352 others(1): Show a0002c0004t0001g0349 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353	4	362	0.0111	14	c.36 others(25): Show c.3693_*3706dupTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		3283		chr16	TogoVar
AARS1_chr16_70247298_70294506	70262996	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	362	0.0028	14	c.149 others(31): Show c.1493-473_1493-472insGTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG03516.hp2 HG02559.hp2 HG02970.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0356 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0356	3	362	0.0083	14	c.962 others(29): Show c.962+282_962+295dupTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02015.hp1 HG02818.hp1 others(8): Show HG01257.hp1 HG02015.hp1 HG02818.hp1 HG02895.hp2 HG03130.hp1 HG03471.hp1 HG06807.hp2 NA18949.hp2 NA19005.hp2 NA19012.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0018 a0001c0001 a0002c0004 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0006c0018t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0002g0164 a0002c0004t0001g0337 a0006c0018t0001g0016	11	362	0.0304	14	c.480 others(29): Show c.480-931_480-918dupGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70275936	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp2 NA18906.hp1 HG01433.hp2 HG02647.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0348 a0002c0004t0001g0355 a0002c0004t0001g0357 a0002c0004t0001g0348 a0002c0004t0001g0355 a0002c0004t0001g0357	3	362	0.0083	14	c.479 others(29): Show c.479+536_479+549dupTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70287254	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02109.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0149 a0001c0002t0004g0150	2	362	0.0055	14	c.-22 others(31): Show c.-22+2153_-22+2166dupTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	1/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	362	0.0028	14	c.-42 others(25): Show c.-4212_-4199dupAAAAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARS2_chr6_44293731_44318347	44299913	T T	TAGGGCAC others(7): Show TAGGGCACCCATACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0011 others(18): Show a0001c0001 a0001c0002 a0001c0011 a0001c0018 a0001c0020 a0002c0003 a0002c0006 a0002c0012 a0002c0014 a0003c0005 a0004c0004 a0005c0007 a0006c0008 a0007c0010 a0008c0009 a0009c0015 a0010c0016 a0011c0013 a0012c0019 a0013c0021 a0014c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(33): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0022 a0001c0011t0005 a0001c0018t0003 a0001c0020t0001 a0002c0003t0004 a0002c0003t0013 a0002c0006t0004 a0002c0012t0004 a0002c0014t0001 a0003c0005t0006 a0004c0004t0001 a0005c0007t0009 a0006c0008t0001 a0007c0010t0002 a0008c0009t0012 a0009c0015t0007 a0010c0016t0001 a0011c0013t0021 a0012c0019t0001 a0013c0021t0001 a0014c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0005g0004 a0001c0001t0006g0009 a0001c0001t0006g0034 a0001c0001t0011g0028 a0001c0001t0014g0056 a0001c0001t0016g0057 a0001c0001t0017g0053 a0001c0001t0023g0083 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0073 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0003g0003 a0001c0002t0003g0016 a0001c0002t0003g0021 a0001c0002t0003g0044 a0001c0002t0003g0052 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0007g0014 a0001c0002t0010g0038 a0001c0002t0015g0090 a0001c0002t0018g0088 a0001c0002t0019g0071 a0001c0002t0022g0082 a0001c0011t0005g0036 a0001c0018t0003g0070 a0001c0020t0001g0064 a0002c0003t0004g0007 a0002c0003t0004g0010 a0002c0003t0004g0030 a0002c0003t0004g0031 a0002c0003t0004g0051 a0002c0003t0004g0075 a0002c0003t0004g0080 a0002c0003t0004g0097 a0002c0003t0013g0042 a0002c0006t0004g0023 a0002c0006t0004g0049 a0002c0012t0004g0077 a0002c0014t0001g0050 a0003c0005t0006g0013 a0004c0004t0001g0012 a0005c0007t0009g0018 a0006c0008t0001g0019 a0007c0010t0002g0041 a0008c0009t0012g0033 a0009c0015t0007g0079 a0010c0016t0001g0067 a0011c0013t0021g0078 a0012c0019t0001g0046 a0013c0021t0001g0065 a0014c0022t0001g0098	389	396	0.9823	14	c.63 others(23): Show c.633_*634insGGTATGGGTGCCCT	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	22/22	633		chr6	TogoVar
AARS2_chr6_44293731_44318347	44313696	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0007 a0009c0015t0007	a0009c0015t0007g0079 a0009c0015t0007g0079	1	396	0.0025	14	c.-37 others(23): Show c.-374_-373insACACACACACACAC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		350		chr6	TogoVar
AASDH_chr4_56333290_56392491	56341389	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0003 a0001c0010 a0003c0003	a0001c0010t0001 a0003c0003t0002 a0001c0010t0001 a0003c0003t0002	a0001c0010t0001g0280 a0003c0003t0002g0240 a0003c0003t0002g0241 a0001c0010t0001g0280 a0003c0003t0002g0240 a0003c0003t0002g0241	3	382	0.0079	14	c.290 others(33): Show c.2907+1432_2907+1445dupAAAAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 NA19043.hp2 HG02965.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101	3	382	0.0079	14	c.351 others(29): Show c.351+814_351+827dupTGTGTGTGTGTGTG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(40): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01891.hp1 HG02015.hp1 HG02080.hp2 HG02280.hp2 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18957.hp2 NA18960.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp2 NA19084.hp1 NA19091.hp2 NA19240.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 others(1): Show a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0006	a0002c0002t0001g0207 a0002c0002t0001g0214 a0003c0003t0002g0240 others(34): Show a0002c0002t0001g0207 a0002c0002t0001g0214 a0003c0003t0002g0240 a0003c0003t0002g0241 a0004c0004t0001g0005 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031	43	382	0.1126	14	c.351 others(29): Show c.351+827_351+828insTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCTCAC others(7): Show TCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0130 a0004c0004t0001g0130	1	382	0.0026	14	c.351 others(29): Show c.351+827_351+828insTGTGTGTGTGAGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56385417	G G	GAGAAAGA others(7): Show GAGAAAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0044 a0003c0003t0002g0044	1	382	0.0026	14	c.-42 others(31): Show c.-42-1077_-42-1076insATCTCTCTCTTTCT	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	1/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18988.hp1 NA19082.hp1 others(1): Show NA18612.hp1 NA18988.hp1 NA19082.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0030 a0002c0002t0001 a0001c0001t0004 a0001c0001t0030 a0002c0002t0001	a0001c0001t0004g0025 a0001c0001t0030g0158 a0002c0002t0001g0256 a0001c0001t0004g0025 a0001c0001t0030g0158 a0002c0002t0001g0256	4	384	0.0104	14	c.-16 others(31): Show c.-16+3662_-16+3675dupTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37022113	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	245	0.0041	14	c.154 others(33): Show c.1547+1125_1547+1138dupTGTGTGTGTGTGTG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37035672	T T	TCTGGTCT others(7): Show TCTGGTCTCTAATTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp2 others(87): Show HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18963.hp2 NA18985.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp1 NA19075.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0002c0004 a0003c0005 a0003c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0001c0009t0001 a0002c0004t0001 a0003c0005t0001 a0003c0007t0001 a0005c0008t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(86): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0003t0001g0091 a0001c0003t0004g0037 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0009t0001g0164 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 a0003c0005t0001g0013 a0003c0005t0001g0093 a0003c0005t0001g0095 a0003c0007t0001g0094 a0005c0008t0001g0101	90	245	0.3674	14	c.161 others(33): Show c.1619+3990_1619+3991insGTCTCTAATTCCTG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81119217	C C	CGGGAAGG others(7): Show CGGGAAGGAGCGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0069 a0006c0069	a0006c0069t0001 a0006c0069t0001	a0006c0069t0001g0340 a0006c0069t0001g0340	1	368	0.0027	14	c.408 others(31): Show c.4084+162_4084+163insCCCCGCTCCTTCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8682186	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03490.hp1 HG03492.hp1 HG01257.hp1 HG03490.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0008 a0001c0001t0002 a0002c0005t0008	a0001c0001t0002g0034 a0002c0005t0008g0016 a0002c0005t0008g0017 a0001c0001t0002g0034 a0002c0005t0008g0016 a0002c0005t0008g0017	3	362	0.0083	14	c.-42 others(31): Show c.-42+7503_-42+7516dupCACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGGGAG others(7): Show AGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04184.hp1 NA18612.hp2 others(3): Show HG03927.hp2 HG04184.hp1 NA18612.hp2 NA18948.hp1 NA19006.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0002g0131 a0001c0001t0002g0216 a0001c0003t0001g0035 others(3): Show a0001c0001t0002g0131 a0001c0001t0002g0216 a0001c0003t0001g0035 a0001c0003t0003g0135 a0001c0003t0003g0165 a0002c0002t0002g0036	6	362	0.0166	14	c.-41 others(33): Show c.-41-24968_-41-24967insGAGAGGGAGGGAGG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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