JoGo: Joint Open Genome and Omics Platform

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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRSK2_chr11_1384934_1467689	1412193	G G	GAGCTGCG others(29): Show GAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	360	0.0028	36	c.91+ others(53): Show c.91+21998_91+22033dupCAGCTGCGCCGCCCCGTCCTGCGGTGGG TGGAGTCT		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1466268	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	360	0.0028	36	c.55 others(47): Show c.5545_*5546insACACACACACACACACACACACACACACACACAC AC		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding					3580		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	338	0.0030	36	c.235 others(53): Show c.2350-845_2350-810dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40						chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01934.hp1 HG01943.hp1 others(8): Show HG01256.hp1 HG01934.hp1 HG01943.hp1 HG03453.hp1 HG03486.hp2 HG03831.hp2 HG03834.hp2 NA18955.hp1 NA18970.hp1 NA19074.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 others(8): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0070 a0001c0001t0094 a0001c0001t0098 a0001c0001t0141 a0001c0001t0151 a0001c0001t0157	a0001c0001t0002g0210 a0001c0001t0012g0149 a0001c0001t0023g0197 others(8): Show a0001c0001t0002g0210 a0001c0001t0012g0149 a0001c0001t0023g0197 a0001c0001t0024g0232 a0001c0001t0040g0244 a0001c0001t0070g0053 a0001c0001t0094g0135 a0001c0001t0098g0147 a0001c0001t0141g0218 a0001c0001t0151g0254 a0001c0001t0157g0260	11	265	0.0415	36	c.283 others(53): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATATATAT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40						chrX	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19065.hp1 HG02976.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0255 a0001c0001t0265 a0001c0001t0255 a0001c0001t0265	a0001c0001t0255g0044 a0001c0001t0265g0074 a0001c0001t0255g0044 a0001c0001t0265g0074	2	448	0.0045	36	c.-23 others(47): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding					2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49605636	C C	CATATATG others(29): Show CATATATGTAATATATATTATATATAATATATATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp2 others(2): Show HG00140.hp1 HG00642.hp2 HG00733.hp2 HG01433.hp1 HG02300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0004c0022 a0001c0001 a0004c0006 a0004c0022	a0001c0001t0002 a0004c0006t0002 a0004c0022t0002 a0001c0001t0002 a0004c0006t0002 a0004c0022t0002	a0001c0001t0002g0133 a0004c0006t0002g0035 a0004c0006t0002g0037 others(2): Show a0001c0001t0002g0133 a0004c0006t0002g0035 a0004c0006t0002g0037 a0004c0006t0002g0179 a0004c0022t0002g0034	5	186	0.0269	36	c.225 others(55): Show c.225-19306_225-19305insAAAATATATGTAATATATATTATATA TAATATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605636	C C	CATATATG others(29): Show CATATATGTAATATATATTATATATAATATATATTAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	186	0.0054	36	c.225 others(55): Show c.225-19304_225-19303insAATATATGTAATATATATTATATATA ATATATATTA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605670	T T	TAAATATA others(29): Show TAAATATATGTAATATATATTATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00735.hp2 others(25): Show HG00099.hp2 HG00280.hp1 HG00735.hp2 HG01074.hp1 HG01192.hp1 HG01258.hp2 HG01515.hp2 HG01928.hp2 HG02004.hp2 HG02300.hp2 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18963.hp2 NA18973.hp2 NA18979.hp1 NA18991.hp1 NA19012.hp2 NA19070.hp2	a0001 a0009 a0018 others(3): Show a0001 a0009 a0018 a0019 a0020 a0023	a0001c0001 a0009c0014 a0018c0031 others(3): Show a0001c0001 a0009c0014 a0018c0031 a0019c0026 a0020c0030 a0023c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0009c0014t0009 a0018c0031t0002 a0019c0026t0002 a0020c0030t0002 a0023c0028t0003	a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0104 others(25): Show a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0003g0041 a0001c0001t0003g0096 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0009g0094 a0001c0001t0009g0149 a0001c0001t0012g0116 a0001c0001t0012g0136 a0001c0001t0018g0109 a0001c0001t0021g0145 a0009c0014t0009g0099 a0018c0031t0002g0091 a0019c0026t0002g0100 a0020c0030t0002g0143 a0023c0028t0003g0150	28	186	0.1505	36	c.225 others(55): Show c.225-19304_225-19303insAATATATGTAATATATATTATATATA ATATATATAA		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605672	C C	CATATATG others(29): Show CATATATGTAATATATATTATATATAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03098.hp2 HG02735.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0131 a0001c0001t0011g0098 a0001c0001t0002g0131 a0001c0001t0011g0098	2	186	0.0108	36	c.225 others(55): Show c.225-19296_225-19261dupGTAATATATATTATATATAATATATA TAAAATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605691	A A	ATATATAA others(29): Show ATATATAATATATATTAAATATATGTAATATATATTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0023 a0003c0003 a0003c0023	a0003c0003t0014 a0003c0023t0014 a0003c0003t0014 a0003c0023t0014	a0003c0003t0014g0160 a0003c0023t0014g0157 a0003c0003t0014g0160 a0003c0023t0014g0157	2	186	0.0108	36	c.225 others(55): Show c.225-19270_225-19269insTAAATATATGTAATATATATTGTATA TAATATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATATACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATATATACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA19010.hp1 HG03710.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	412	0.0049	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTATATATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATATATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG03098.hp1 others(2): Show HG00438.hp1 HG02071.hp2 HG03098.hp1 NA18612.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	5	412	0.0121	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTATATATATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATATATATATACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG06807.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0002 a0001c0001t0014g0026 a0001c0001t0002g0002 a0001c0001t0014g0026	2	412	0.0049	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTATATATATATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(29): Show TATATATATATATATATACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	36	c.-49 others(47): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTATATATATATATAT AT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					4900		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02148.hp1 HG02273.hp2 others(3): Show HG01258.hp1 HG02148.hp1 HG02273.hp2 NA18954.hp2 NA19066.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0247 a0001c0001t0002g0254 others(3): Show a0001c0001t0002g0169 a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0277	6	330	0.0182	36	c.285 others(53): Show c.2855-849_2855-848insTATATATATATATATATATATATATATA TATATATA		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991279	T T	TATATATA others(29): Show TATATATATATAAATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	330	0.0030	36	c.285 others(53): Show c.2855-829_2855-828insAATATATATATATATATATATAAAAATA TATATATA		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	444	0.0023	36	c.-32 others(47): Show c.-3226_-3225insATATATATATATATATATATATATATATATATAT AT		BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding					3177		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814228	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0006 a0001c0001t0051g0083 a0001c0001t0051g0006 a0001c0001t0051g0083	2	436	0.0046	36	c.45 others(45): Show c.458_*459insTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTC		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8				459	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	328	0.0031	36	c.665 others(51): Show c.665-424_665-423insTATATATATATATATATATATATATATATA TATATA		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7						chr15	TogoVar
BTBD9_chr6_38163451_38644929	38438254	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01361.hp1 others(6): Show HG00735.hp2 HG01106.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02486.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0079 others(6): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0079 a0001c0001t0102 a0001c0001t0108 a0001c0001t0127 a0001c0001t0142 a0001c0001t0169 a0001c0001t0180	a0001c0001t0017g0004 a0001c0001t0018g0163 a0001c0001t0079g0147 others(6): Show a0001c0001t0017g0004 a0001c0001t0018g0163 a0001c0001t0079g0147 a0001c0001t0102g0007 a0001c0001t0108g0001 a0001c0001t0127g0005 a0001c0001t0142g0002 a0001c0001t0169g0171 a0001c0001t0180g0189	9	224	0.0402	36	c.115 others(57): Show c.1155-93162_1155-93161insTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTC_chr4_74739759_74799523	74798909	T T	TGTTGTTT others(29): Show TGTTGTTTTTGAGACAGAGTCTCAGTCTGTTGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp1 others(89): Show HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19006.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0006t0002 a0002c0002t0014 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0004c0004t0003 a0004c0004t0015	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0223 a0001c0001t0002g0284 a0001c0001t0004g0185 a0001c0001t0010g0173 a0001c0001t0012g0017 a0001c0001t0024g0316 a0001c0006t0002g0226 a0002c0002t0014g0034 a0003c0003t0003g0022 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0148 a0003c0003t0003g0150 a0003c0003t0003g0154 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0180 a0003c0003t0005g0030 a0003c0003t0005g0133 a0003c0003t0005g0285 a0003c0003t0006g0186 a0004c0004t0003g0093 a0004c0004t0015g0035	92	360	0.2556	36	c.-45 others(47): Show c.-4585_-4584insCTGGGCAACAGACTGAGACTCTGTCTCAAAAACA AC		BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding					4387		chr4	TogoVar
BTRC_chr10_101349165_101562313	101366930	A A	ATATATAT others(29): Show ATATATATTTATATATATATTTATATAAATATATATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	266	0.0038	36	c.48+ others(53): Show c.48+12719_48+12720insATTTATATAAATATATATTTATATATTT ATATATAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BZW2_chr7_16641181_16711517	16656150	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	418	0.0024	36	c.-7- others(51): Show c.-7-9286_-7-9285insTATATATATATATATATATATATATATATA CACACA		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
BZW2_chr7_16641181_16711517	16710680	A A	AGGAGGGA others(29): Show AGGAGGGAAGGAAGGAAGGAGGGAAGGAAGGAAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0403 a0001c0001t0003g0272 a0001c0003t0002g0295 a0001c0001t0002g0403 a0001c0001t0003g0272 a0001c0003t0002g0295	3	418	0.0072	36	c.45 others(47): Show c.4592_*4593insGGAGGGAAGGAAGGAAGGAGGGAAGGAAGGAAGG AG		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding					4164		chr7	TogoVar
C10orf90_chr10_126419997_126675693	126442478	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG02735.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0052 a0001c0001t0011g0207 a0001c0001t0002g0052 a0001c0001t0011g0207	2	218	0.0092	36	c.218 others(57): Show c.2189-12629_2189-12628insATATATATATATATATATATATAT ATATATATATAT		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9						chr10	TogoVar
C10orf90_chr10_126419997_126675693	126445805	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02132.hp1 NA18964.hp2 others(1): Show HG01257.hp1 HG02132.hp1 NA18964.hp2 NA18975.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0002c0004 a0004c0005 others(1): Show a0002c0003 a0002c0004 a0004c0005 a0005c0006	a0002c0003t0001 a0002c0004t0004 a0004c0005t0001 others(1): Show a0002c0003t0001 a0002c0004t0004 a0004c0005t0001 a0005c0006t0003	a0002c0003t0001g0048 a0002c0004t0004g0128 a0004c0005t0001g0045 others(1): Show a0002c0003t0001g0048 a0002c0004t0004g0128 a0004c0005t0001g0045 a0005c0006t0003g0102	4	218	0.0184	36	c.218 others(57): Show c.2188+13234_2188+13235insTATATATATATATATATATATATA TATATATATATA		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9						chr10	TogoVar
C11orf54_chr11_93736672_93769749	93767718	T T	TGGGGCGA others(29): Show TGGGGCGACAGAGTGAGACTCCATCTTAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	364	0.0028	36	c.60 others(47): Show c.6030_*6031insGGGGCGACAGAGTGAGACTCCATCTTAAAAAAAA AA		C11orf54	ENSG00000182919.15	transcript	ENST00000354421.8	protein_coding					2970		chr11	TogoVar
C11orf87_chr11_109417190_109434167	109431645	C C	CCCCCCAC others(29): Show CCCCCCACACCCACACCCACCCCCACCACCCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	390	0.0026	36	c.74 others(47): Show c.7418_*7419insCCCCCACACCCACACCCACCCCCACCACCCCCCA CA		C11orf87	ENSG00000185742.7	transcript	ENST00000327419.7	protein_coding					2479		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39713929	T T	TTATGTGC others(29): Show TTATGTGCATATACCTATATATACGTGTATATACAGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18981.hp1 NA18995.hp1 HG02071.hp1 NA18981.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0214	3	360	0.0083	36	c.141 others(55): Show c.1412-2813_1412-2778dupCTATATATACGTGTATATACAGGTAT GTGCATATAC		C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf50_chr12_87975035_88034401	88010370	T T	TAGATTAT others(29): Show TAGATTATAAGATTAAAATTATTATAATCTTATAATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 NA18961.hp1 others(6): Show HG03239.hp2 HG04228.hp1 NA18961.hp1 NA18966.hp2 NA18983.hp1 NA18983.hp2 NA19010.hp2 NA19058.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0110 a0001c0001t0001g0111 a0002c0003t0001g0197	9	272	0.0331	36	c.134 others(55): Show c.134-12216_134-12181dupTATTATAAGATTATAATAATTTTAAT CTTATAATCT		C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	3/12						chr12	TogoVar
C12orf50_chr12_87975035_88034401	88010428	T T	TATAATCT others(29): Show TATAATCTTATAATAAGATTATAAGATTAAAATTATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	272	0.0037	36	c.134 others(55): Show c.134-12239_134-12238insGATAATTTTAATCTTATAATCTTATT ATAAGATTAT		C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	3/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19060.hp1 HG00438.hp2 NA19060.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0266 a0003c0004t0001g0272 a0003c0004t0001g0266 a0003c0004t0001g0272	2	312	0.0064	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01123.hp1 others(1): Show HG00423.hp1 HG01106.hp1 HG01123.hp1 NA19080.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0029 a0002c0002t0001g0161 a0002c0002t0001g0165 others(1): Show a0002c0002t0001g0029 a0002c0002t0001g0161 a0002c0002t0001g0165 a0003c0004t0001g0251	4	312	0.0128	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTTTTT CTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	312	0.0032	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTTTTCTTT CTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0107 a0003c0004t0003g0107	1	312	0.0032	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18999.hp1 HG03195.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0005 a0001c0003t0001 a0002c0005t0005	a0001c0003t0001g0222 a0002c0005t0005g0264 a0001c0003t0001g0222 a0002c0005t0005g0264	2	312	0.0064	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(29): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	312	0.0032	36	c.968 others(53): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTTCTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113964804	A A	AGGGGGGA others(29): Show AGGGGGGACCGCCTGGGCTCGGCTCTGCCCACCACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0133 a0001c0001t0038g0133	1	414	0.0024	36	c.572 others(50): Show c.572+87_572+122dupGTGTGGTGGGCAGAGCCGAGCCCAGGCGGTC CCCCC		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6						chr13	TogoVar
C13orf46_chr13_113948705_113979076	113973867	C C	CCCAGACT others(29): Show CCCAGACTCCTGCTTCGCTGAAGTTCAGAGGCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19006.hp2 NA19006.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0074 a0005c0005t0001g0074	1	414	0.0024	36	c.130 others(43): Show c.130_131insAGGAGGCCTCTGAACTTCAGCGAAGCAGGAGTCTGG	p.Leu others(47): Show p.Leu43_Gly44insGluGluAlaSerGluLeuGlnArgSerArgSerL eu	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	1/7	209/3786	130/639	44/212			chr13	TogoVar
C14orf132_chr14_96034362_96098971	96069181	A A	ATATATAT others(29): Show ATATATATATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0091 a0001c0001t0011g0091	1	372	0.0027	36	c.28- others(53): Show c.28-17317_28-17316insATATATGTATATATATATATATGTATAT ATATATAT		C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
C14orf132_chr14_96034362_96098971	96069183	A A	ATATATAT others(29): Show ATATATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	372	0.0027	36	c.28- others(53): Show c.28-17317_28-17316insATATGTATATATATATATATATATGTAT ATATATAT		C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
C14orf132_chr14_96034362_96098971	96069183	A A	ATATATAT others(29): Show ATATATATATATATATGTATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	372	0.0027	36	c.28- others(53): Show c.28-17317_28-17316insATATGTATATATATATGTATATATGTAT ATATATAT		C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
C16orf95_chr16_87297814_87322392	87304800	A A	AGACCGGG others(29): Show AGACCGGGCTAAGCTCCTGCCTATACATAGTGATGTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0008 a0007c0012t0008	a0007c0012t0008g0128 a0007c0012t0008g0128	1	458	0.0022	36	c.701 others(51): Show c.701+918_701+919insAACATCACTATGTATAGGCAGGAGCTTAGC CCGGTC		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6						chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390308	A A	ATATATAT others(29): Show ATATATATATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	441	0.0023	36	c.750 others(51): Show c.750+957_750+958insTATATATATATATATATATATATATTATAT ATATAT		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390312	A A	ATATATAT others(29): Show ATATATATATTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	441	0.0023	36	c.750 others(51): Show c.750+959_750+960insTATATATATATATATATATATATATATTAT ATATAT		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp2 NA18975.hp1 others(5): Show HG02080.hp1 HG03239.hp2 NA18975.hp1 NA18984.hp1 NA19064.hp1 NA19072.hp1 NA19075.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0084 a0002c0002t0001g0251 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0084 a0002c0002t0001g0251 a0002c0002t0001g0260	8	441	0.0181	36	c.750 others(51): Show c.750+972_750+973insTATATATATATATATATATATATATATATA TCTATA		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	441	0.0023	36	c.750 others(51): Show c.750+972_750+973insTATATATATATATATATATATATATATCTA TCTATA		C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf98_chr17_38830086_38846438	38842871	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTATCTATCTATCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	431	0.0023	36	c.-14 others(47): Show c.-1483_-1482insTAGATAGATAGATAGATAGATAGATAGACAGACA GA		C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding					1434		chr17	TogoVar

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