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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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
ARHGEF10_chr8_1818926_1963641	1873654	G G	GCCGCGGG others(38): Show GCCGCGGGGTAGTGCACCCACATTTCCTCGTTGCGTTGAGAGGTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0104 a0001c0004t0048g0104	1	363	0.0028	45	c.680 others(62): Show c.680-2899_680-2898insACATTTCCTCGTTGCGTTGAGAGGTGCC CGCGGGGTAGTGCACCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3474336	A A	ACACATGG others(38): Show ACACATGGCAGGGTTGCCCAAGCCAAACAGAACCTCAAACTCCTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	1	334	0.0030	45	c.130 others(62): Show c.1306-371_1306-327dupCACATGGCAGGGTTGCCCAAGCCAAACA GAACCTCAAACTCCTGG		ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF1_chr19_41878184_41912452	41887394	C C	CTGAGAGG others(38): Show CTGAGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	234	0.0043	45	c.-19 others(60): Show c.-19-666_-19-665insAGGAGGGTGACGGGCGGTGTGTACGCGCTT CAGGGCCCTGTTGAG		ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73737439	C C	CTTCTTTT others(38): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02735.hp2 HG02897.hp1 others(3): Show HG02615.hp2 HG02735.hp2 HG02897.hp1 HG02976.hp1 NA18961.hp1 NA20300.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0013 a0018	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0006c0047 a0013c0056 a0018c0026	a0001c0001t0001 a0002c0002t0005 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0005 a0002c0003t0001 a0006c0047t0008 a0013c0056t0002 a0018c0026t0002	a0001c0001t0001g0027 a0002c0002t0005g0022 a0002c0003t0001g0166 others(3): Show a0001c0001t0001g0027 a0002c0002t0005g0022 a0002c0003t0001g0166 a0006c0047t0008g0136 a0013c0056t0002g0074 a0018c0026t0002g0030	6	188	0.0319	45	c.34- others(62): Show c.34-12355_34-12311dupCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF2_chr1_155941854_155983547	155964167	A A	AAATATAT others(38): Show AAATATATATATATATATATATACATATACATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03540.hp1 HG02896.hp2 HG02897.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0222 a0002c0002t0001g0028 a0002c0002t0001g0222	3	284	0.0106	45	c.724 others(60): Show c.724+820_724+821insATATGTATATATATATGTATATGTATATAT ATATATATATATATT		ARHGEF2	ENSG00000116584.22	transcript	ENST00000361247.9	protein_coding	7/21						chr1	TogoVar
ARHGEF38_chr4_105547620_105685914	105561434	A A	AGAATGGA others(38): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG02717.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0003c0007t0001 a0001c0002t0001 a0003c0007t0001	a0001c0002t0001g0104 a0003c0007t0001g0010 a0001c0002t0001g0104 a0003c0007t0001g0010	2	186	0.0108	45	c.196 others(62): Show c.196+8477_196+8478insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAAT		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561439	A A	AGAATGGA others(38): Show AGAATGGAATAGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	186	0.0054	45	c.196 others(62): Show c.196+8482_196+8483insGGAATAGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAAT		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561439	A A	AGAATGGA others(38): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0026 a0001c0002 a0006c0026	a0001c0002t0003 a0006c0026t0002 a0001c0002t0003 a0006c0026t0002	a0001c0002t0003g0090 a0006c0026t0002g0089 a0001c0002t0003g0090 a0006c0026t0002g0089	2	186	0.0108	45	c.196 others(62): Show c.196+8482_196+8483insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAAT		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATAGA others(38): Show AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0081 a0002c0001t0005g0081	1	186	0.0054	45	c.196 others(62): Show c.196+8487_196+8488insAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATGGAAT		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATAGA others(38): Show AGAATAGAATAGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0006 a0004c0012t0006	a0004c0012t0006g0017 a0004c0012t0006g0017	1	186	0.0054	45	c.196 others(62): Show c.196+8487_196+8488insAGAATAGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAAT		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARID4A_chr14_58293555_58378876	58375723	A A	ATTATTTT others(38): Show ATTATTTTTTTATTACAGTCTCTGCTTATCCAAACTCATGTAATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02976.hp1 HG03130.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155	3	294	0.0102	45	c.37 others(56): Show c.3734_*3735insTTATTTTTTTATTACAGTCTCTGCTTATCCAAAC TCATGTAATTC		ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding					1848		chr14	TogoVar
ARL16_chr17_81676187_81688797	81688210	C C	CGGGGGAG others(38): Show CGGGGGAGAGGGTGGCTGCAGGGGGTCTGGAGCCCGCTCTGAACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA21309.hp2 HG02976.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0005g0015 a0001c0001t0002g0019 a0001c0001t0005g0015	2	444	0.0045	45	c.-44 others(56): Show c.-4458_-4457insCGGTTCAGAGCGGGCTCCAGACCCCCTGCAGCCA CCCTCTCCCCC		ARL16	ENSG00000214087.9	transcript	ENST00000622299.5	protein_coding					4414		chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	434	0.0023	45	c.62 others(56): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	434	0.0023	45	c.62 others(56): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATAT		ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding					4762		chr3	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(38): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	332	0.0030	45	c.-16 others(56): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding					1570		chr2	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0053 a0001c0002t0001g0054	2	266	0.0075	45	c.-21 others(66): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAGGAAGA		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	266	0.0038	45	c.-21 others(66): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAGGAAGAGGAAGA		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCTGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	308	0.0033	45	c.270 others(64): Show c.2701+3523_2701+3524insGTGCGCGCGCGCAGCGCGCGCACGCA CACGCGCACACACACACAC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(38): Show GTGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCAGCGCGCA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	308	0.0033	45	c.270 others(64): Show c.2701+3522_2701+3523insTGCGCGCTGCGCGCGCGCACGCACAC GCGCACACACACACACACA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198359	A A	AGGGGAGG others(38): Show AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	216	0.0046	45	c.311 others(62): Show c.311-1371_311-1370insCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ASCL1_chr12_102952674_102965513	102962440	C C	CTTTCTTT others(38): Show CTTTCTTTTCTTTCTTTCTTTCTTCCTTCCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	354	0.0028	45	c.31 others(56): Show c.3126_*3127insTTTCTTTTCTTTCTTTCTTTCTTCCTTCCTTTCT TTCTCTTTCTT		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1928		chr12	TogoVar
ASIP_chr20_34236423_34274344	34258745	C C	CTATATAT others(38): Show CTATATATAATATGATATATATAATATATATATAGTATATATAGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG01243.hp1 others(25): Show HG00738.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(17): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0005t0002g0001	28	306	0.0915	45	c.-10 others(62): Show c.-10-1608_-10-1607insGATATATATAATATATATATAGTATATA TAGTGTATATATAATAT		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03225.hp1 HG03579.hp1 HG02630.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	3	464	0.0065	45	c.42 others(56): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	246	0.0041	45	c.902 others(62): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTT others(38): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA19070.hp2 HG01169.hp1 NA19070.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0174 a0004c0004t0002g0179 a0004c0004t0002g0174 a0004c0004t0002g0179	2	226	0.0089	45	c.108 others(62): Show c.108+5714_108+5715insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	236	0.0042	45	c.363 others(62): Show c.363+5781_363+5782insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP11A_chr13_112685038_112892168	112804208	T T	TTTCCTCC others(38): Show TTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0064 a0014c0023t0002g0064	1	254	0.0039	45	c.163 others(60): Show c.163-749_163-748insTTCCTCCTTCCCTCCTTCACCTCCCTCCCC CCCATCCCCTCTCTG		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29						chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718677	G G	GGGTGCAG others(38): Show GGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	376	0.0027	45	c.214 others(64): Show c.2140-2797_2140-2796insATTCCTTCCTGGACGTCTCCCTCCGC AGACATCCGTGACTGCACC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(38): Show CCTCCCTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0038 a0001c0001t0040g0038	1	122	0.0082	45	c.77- others(60): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCTCTCTCTCTCTCT CTCTCTCTCTTTCTC		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25474739	G G	GCAGGTTT others(38): Show GCAGGTTTGTTATATAGGTAAACTCATGTCATAGGGGTTTGTTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	122	0.0082	45	c.221 others(62): Show c.221+5622_221+5666dupGTTTGTTATATAGGTAAACTCATGTCAT AGGGGTTTGTTGTACAG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79205346	C C	CGGCCAAC others(38): Show CGGCCAACAAATATCTAGCAAATATCTCCCAAGTAATGAGCAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(107): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(19): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0024 a0001c0037 a0001c0039 a0002c0002 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0006c0012 a0010c0029 a0012c0018 a0015c0027 a0016c0028	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(31): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0024t0004 a0001c0037t0003 a0001c0039t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0006c0012t0003 a0010c0029t0004 a0012c0018t0002 a0015c0027t0003 a0016c0028t0012	a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 others(106): Show a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0024t0004g0058 a0001c0037t0003g0104 a0001c0039t0002g0266 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0003g0198 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0010c0029t0004g0220 a0012c0018t0002g0114 a0015c0027t0003g0139 a0016c0028t0012g0144	110	298	0.3691	45	c.955 others(62): Show c.955-1585_955-1584insCAAATATCTAGCAAATATCTCCCAAGTA ATGAGCAAAATGGCCAA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(38): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0049 a0007c0009t0049	a0007c0009t0049g0005 a0007c0009t0049g0005	1	182	0.0055	45	c.-36 others(66): Show c.-361+23328_-361+23329insCCTCTCCTCTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(38): Show AAGGAAAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0011 a0006c0008t0011	a0006c0008t0011g0053 a0006c0008t0011g0053	1	182	0.0055	45	c.-36 others(66): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTTTCCTTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(38): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00673.hp1 HG02135.hp1 others(9): Show HG00558.hp1 HG00673.hp1 HG02135.hp1 HG02683.hp2 NA18939.hp1 NA18942.hp2 NA18972.hp2 NA18974.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp2 NA19089.hp1	a0009 a0048 a0009 a0048	a0009c0009 a0048c0050 a0009c0009 a0048c0050	a0009c0009t0002 a0009c0009t0004 a0009c0009t0011 others(4): Show a0009c0009t0002 a0009c0009t0004 a0009c0009t0011 a0009c0009t0063 a0009c0009t0072 a0009c0009t0079 a0048c0050t0004	a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0004g0033 others(9): Show a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0004g0033 a0009c0009t0004g0053 a0009c0009t0004g0055 a0009c0009t0004g0059 a0009c0009t0004g0083 a0009c0009t0011g0147 a0009c0009t0063g0281 a0009c0009t0072g0034 a0009c0009t0079g0054 a0048c0050t0004g0032	12	402	0.0299	45	c.916 others(52): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGC	p.Gly others(57): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(38): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01070.hp2 HG01071.hp2 HG01884.hp1 others(8): Show HG01070.hp2 HG01071.hp2 HG01884.hp1 HG01952.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA18980.hp2 NA18986.hp1	a0012 a0028 a0012 a0028	a0012c0016 a0012c0029 a0028c0037 a0012c0016 a0012c0029 a0028c0037	a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 others(5): Show a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 a0012c0016t0045 a0012c0016t0046 a0012c0029t0018 a0012c0029t0039 a0028c0037t0014	a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 others(8): Show a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 a0012c0016t0030g0379 a0012c0016t0045g0015 a0012c0016t0046g0014 a0012c0029t0018g0204 a0012c0029t0039g0136 a0012c0029t0039g0137 a0028c0037t0014g0111 a0028c0037t0014g0114	11	402	0.0274	45	c.915 others(52): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAG	p.Gln others(58): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01081.hp1 others(34): Show HG00733.hp2 HG00741.hp2 HG01081.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02055.hp1 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02717.hp2 HG02738.hp1 HG02965.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 NA18906.hp2 NA18945.hp1 NA18977.hp2 NA18978.hp1 NA18994.hp1 NA18998.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0006 a0007 others(2): Show a0003 a0006 a0007 a0019 a0021	a0003c0004 a0006c0010 a0007c0009 others(2): Show a0003c0004 a0006c0010 a0007c0009 a0019c0031 a0021c0032	a0003c0004t0001 a0006c0010t0001 a0007c0009t0001 others(2): Show a0003c0004t0001 a0006c0010t0001 a0007c0009t0001 a0019c0031t0001 a0021c0032t0001	a0003c0004t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0016 others(34): Show a0003c0004t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0016 a0003c0004t0001g0018 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0038 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0099 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0184 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0019 a0006c0010t0001g0039 a0007c0009t0001g0194 a0019c0031t0001g0015 a0021c0032t0001g0007	37	356	0.1039	45	c.100 others(62): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	268	0.0037	45	c.-38 others(56): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	268	0.0037	45	c.-38 others(56): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT TTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	268	0.0037	45	c.-38 others(56): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	268	0.0037	45	c.-38 others(56): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0253 a0002c0002t0018g0253	1	268	0.0037	45	c.-38 others(56): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	268	0.0037	45	c.106 others(64): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B4GALNT3_chr12_454939_568509	511482	T T	TCCACCTT others(38): Show TCCACCTTCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04228.hp2 HG01255.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0060 a0001c0001t0003 a0001c0001t0060	a0001c0001t0003g0135 a0001c0001t0060g0080 a0001c0001t0003g0135 a0001c0001t0060g0080	2	394	0.0051	45	c.170 others(64): Show c.170-23683_170-23682insCACCTTCTTCCACCTTCCACCTTCTT CCACCTTCCACCTTCCACC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511576	T T	TCTTCCAC others(38): Show TCTTCCACCTTCCACCTTCCGCCTTCCACCTTCTTCCACCTTCGAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0384 a0001c0001t0005g0384	1	394	0.0025	45	c.170 others(64): Show c.170-23558_170-23557insTTCCACCTTCGACCTTCCACCTTCCA CCTTCCGCCTTCCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511704	T T	TCCACCTT others(38): Show TCCACCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01109.hp2 others(9): Show HG00280.hp1 HG00733.hp2 HG01109.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG02451.hp2 HG02615.hp1 HG03491.hp2 HG04204.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0008c0014	a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 others(9): Show a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 a0001c0002t0003 a0001c0002t0006 a0001c0002t0036 a0002c0003t0005 a0002c0003t0008 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0008c0014t0030	a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0062g0382 others(9): Show a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0062g0382 a0001c0002t0003g0035 a0001c0002t0006g0137 a0001c0002t0036g0138 a0002c0003t0005g0341 a0002c0003t0008g0078 a0003c0004t0002g0285 a0003c0004t0004g0390 a0003c0004t0005g0174 a0008c0014t0030g0095	12	394	0.0305	45	c.170 others(64): Show c.170-23460_170-23459insACCTTCCACCTTCCACCTTCCACCTT CGACCTTCCGCCTTCCGCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGGAGG others(38): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	184	0.0054	45	c.784 others(60): Show c.784-502_784-501insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375062	T T	TGGAAGGG others(38): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	184	0.0054	45	c.784 others(60): Show c.784-370_784-369insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375107	A A	AGGAAGGG others(38): Show AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	184	0.0054	45	c.784 others(60): Show c.784-340_784-339insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375137	A A	AGGAAGGG others(38): Show AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20905.hp2 HG01258.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0063 a0001c0003t0002g0170 a0001c0001t0001g0063 a0001c0003t0002g0170	2	184	0.0109	45	c.784 others(60): Show c.784-310_784-309insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(38): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03834.hp1 HG01070.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0002 a0001c0014t0001 a0001c0005t0002 a0001c0014t0001	a0001c0005t0002g0101 a0001c0014t0001g0072 a0001c0005t0002g0101 a0001c0014t0001g0072	2	184	0.0109	45	c.784 others(60): Show c.784-289_784-245dupGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

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