Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
API5_chr11_43306996_43349529	43311165	A A	ATATATAT others(40): Show ATATATATTAATATAATATTATTATATTTATATTATATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(102): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0001t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0011g0009 a0001c0002t0001g0002 a0001c0002t0001g0026 a0001c0002t0001g0107	105	384	0.2734	47	c.-96 others(56): Show c.-963_-962insTATATATTAATATAATATTATTATATTTATATTATA TATTATATATT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		830		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(40): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	432	0.0023	47	c.16+ others(62): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTCTTTCTTTCCTT CCTTCCTTCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTCT others(40): Show CTCTCTCTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0137 a0005c0006t0001g0137	1	354	0.0028	47	c.570 others(62): Show c.570-771_570-770insCTCTTCTCTCTTTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARFGEF2_chr20_48916711_49041693	48936217	A A	ACCTCCCG others(40): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp1 others(11): Show HG01109.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0015 a0001c0002t0005g0016 others(10): Show a0001c0002t0005g0001 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0349	14	352	0.0398	47	c.122 others(64): Show c.122-4978_122-4932dupCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCCCT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152804297	A A	ATTATATA others(40): Show ATTATATATAATATAACATGTATTATATATTATATATAATATAACATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 NA18522.hp2 HG02258.hp1 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0313 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0313	3	342	0.0088	47	c.-10 others(66): Show c.-10+24072_-10+24073insTATATATAATATAACATGTATTATAT ATTATATATAATATAACATGT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP1_chr11_46672080_46705619	46700858	C C	CGGGGGGG others(40): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	47	c.-35 others(56): Show c.-358_-357insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCC CCCCCCCCCCC	ARHGAP1	ENSG00000175220.12	transcript	ENST00000311956.9	protein_coding		240		chr11	TogoVar
ARHGAP24_chr4_85470150_86007666	85521405	A A	AAAAGTAA others(40): Show AAAAGTAATATATATATTACATCATACCTTCTATCCCCCTCCCTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01070.hp1 others(19): Show HG00323.hp1 HG00423.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02155.hp2 HG03492.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0105 a0001c0003t0001g0020 a0001c0003t0001g0091 a0001c0003t0001g0106 a0001c0013t0001g0013	22	108	0.2037	47	c.-21 others(66): Show c.-21+45848_-21+45894dupAAGTAATATATATATTACATCATACC TTCTATCCCCCTCCCTTTTTA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP26_chr5_142765377_143234007	142949232	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	198	0.0051	47	c.110 others(68): Show c.1107+17107_1107+17108insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22			chr5	TogoVar
ARHGAP28_chr18_6724716_6920716	6841210	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	248	0.0040	47	c.543 others(64): Show c.543+3809_543+3810insTCCTCTCTCTCTCTCTCCTCTCTCTCTC TCTCTCCTCTCTCTCTCTC	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP6_chrX_11132544_11670920	11567566	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	144	0.0069	47	c.588 others(66): Show c.588+96674_588+96675insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGAP6_chrX_11132544_11670920	11590866	G G	GAAAAGAA others(40): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	144	0.0069	47	c.588 others(66): Show c.588+73374_588+73375insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTT	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGDIG_chr16_275591_288010	285925	T T	TCCCAACC others(40): Show TCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0007 a0001c0001t0014g0007 a0001c0001t0001g0007 a0001c0001t0014g0007	3	442	0.0068	47	c.31 others(58): Show c.3111_*3112insCCCAACCCCAACCCCAACACCAACCCCGCGGTTC TCCCAACCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2916		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1840126	C C	CTGCTGTG others(40): Show CTGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTTTGGGGACTGT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0006 a0006	a0006c0113 a0006c0113	a0006c0113t0070 a0006c0113t0070	a0006c0113t0070g0304 a0006c0113t0070g0304	1	363	0.0028	47	c.-47 others(64): Show c.-47-3227_-47-3226insTGCTGTGGAAGCTGTCTGGTGTGGAAGC TGTCTGGTTTGGGGACTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1858219	C C	CCCAGGTG others(40): Show CCCAGGTGGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCATGTGAGTCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	363	0.0028	47	c.193 others(62): Show c.193+111_193+112insGTCCCCAGGTGAGTCCCCAGGTGGGTCCCC ATGTGAGTCACCAGGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0259 a0001c0002t0008g0259	1	434	0.0023	47	c.62 others(58): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	434	0.0023	47	c.62 others(58): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMH3_chr10_101840599_102061173	102036206	A A	AGTGGGGG others(40): Show AGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	262	0.0038	47	c.103 others(64): Show c.103-2914_103-2868dupCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGCTGACCCCCCAC	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	2/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	102041077	T T	TATATATA others(40): Show TATATATATATAATATATATATATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	262	0.0038	47	c.-11 others(62): Show c.-11-953_-11-952insTATATATATATATATATTATATATATATAT ATATATTATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	1/25			chr10	TogoVar
ARPP21_chr3_35634525_35799486	35676432	A A	ATTAAAAC others(40): Show ATTAAAACATTTATATTCCCTGAAATCTTAACCAGAAAATTTATTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02280.hp1 others(4): Show HG01074.hp1 HG01891.hp2 HG02280.hp1 HG02622.hp2 HG03453.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0216 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0216 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0004t0001g0257 a0001c0006t0001g0217	7	266	0.0263	47	c.-21 others(66): Show c.-212-3349_-212-3303dupACATTTATATTCCCTGAAATCTTAAC CAGAAAATTTATTTTCTTAAA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35676433	T T	TTAAAACA others(40): Show TTAAAACATTTATATTCCCTGAAATCTTAACCAGAAAATTTATTTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0261 a0001c0006t0001g0261	1	266	0.0038	47	c.-21 others(66): Show c.-212-3308_-212-3307insCTAAAACATTTATATTCCCTGAAATC TTAACCAGAAAATTTATTTTC	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35676449	C C	CCCTGAAA others(40): Show CCCTGAAATCTTAACCAGAAAATTTATTTTCTTAAAACATTTATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(64): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18945.hp2 NA18952.hp1 NA18956.hp1 NA18965.hp1 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19003.hp1 NA19030.hp2 NA19056.hp2 NA19077.hp1 NA19083.hp1 NA20300.hp1 NA20805.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0004c0013 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0002 a0004c0013t0002 a0006c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0200 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0184 a0001c0001t0002g0195 a0001c0001t0005g0156 a0001c0001t0006g0206 a0001c0002t0001g0030 a0001c0002t0001g0095 a0001c0002t0001g0205 a0001c0002t0001g0256 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0006t0002g0164 a0004c0013t0002g0190 a0006c0010t0002g0148	67	266	0.2519	47	c.-21 others(66): Show c.-212-3303_-212-3302insACATTTATATTTCCTGAAATCTTAAC CAGAAAATTTATTTTCTTAAA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARSI_chr5_150291343_150307905	150303122	G G	GAGTCTTA others(40): Show GAGTCTTAGCCTCTCTGAGTGCCAGCCCTGGAAGGAAAGCCCATCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0019 a0001c0005t0010g0019	1	456	0.0022	47	c.-79 others(56): Show c.-796_-750dupAATGATGGGCTTTCCTTCCAGGGCTGGCACTCAGAG AGGCTAAGACT	ARSI	ENSG00000183876.9	transcript	ENST00000328668.8	protein_coding		218		chr5	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCTGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	308	0.0033	47	c.270 others(66): Show c.2701+3523_2701+3524insGTGCGCGCGCAGCGCGCGCGCACGCA CACGCGCACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	308	0.0033	47	c.270 others(66): Show c.2701+3523_2701+3524insGCGCCGCGCGCGCGCGCGCGCACACA CACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(40): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18989.hp2 HG00673.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0404 a0001c0001t0034g0405 a0001c0001t0004g0404 a0001c0001t0034g0405	2	446	0.0045	47	c.43+ others(62): Show c.43+3897_43+3943dupTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608745	A A	ATACTTTA others(40): Show ATACTTTATATATATATTTATATATACTTTATATATATATATATACTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0111 a0006c0009t0002g0111	1	314	0.0032	47	c.478 others(66): Show c.4786-1658_4786-1657insAAGTATATATATATATATAAAGTATA TATAAATATATATATAAAGTA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASMTL_chrX_1398139_1457909	1457746	T T	TATCTATC others(40): Show TATCTATCTATCTATCCATCTATGTATGTATGTATGTATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03195.hp2 others(3): Show HG02922.hp1 HG02922.hp2 HG03195.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0013 a0002c0003 a0002c0033 others(2): Show a0001c0013 a0002c0003 a0002c0033 a0003c0002 a0005c0027	a0001c0013t0001 a0002c0003t0001 a0002c0033t0001 others(2): Show a0001c0013t0001 a0002c0003t0001 a0002c0033t0001 a0003c0002t0001 a0005c0027t0001	a0001c0013t0001g0164 a0002c0003t0001g0176 a0002c0033t0001g0171 others(3): Show a0001c0013t0001g0164 a0002c0003t0001g0176 a0002c0033t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0173 a0005c0027t0001g0175	6	185	0.0324	47	c.-49 others(58): Show c.-4907_-4906insGATAGATACATACATACATACATACATAGATGGA TAGATAGATAGAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		4838		chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	223	0.0045	47	c.41 others(58): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4048		chrX	TogoVar
ATF2_chr2_175067259_175173203	175108448	G G	GTCCGGGA others(40): Show GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGTCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0014 a0001c0001t0013g0014	1	224	0.0045	47	c.828 others(64): Show c.828+3119_828+3120insAGGGACGGCTGGCCGGGCGGGGGCTGAC CCCCCACCTCCCTCCCGGA	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATF2_chr2_175067259_175173203	175108495	T T	TTCCGGGA others(40): Show TTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	224	0.0045	47	c.828 others(64): Show c.828+3026_828+3072dupTGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCACCTCCCTCCCGGA	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATOSB_chr9_35099117_35120862	35119038	A A	AGGGTGTG others(40): Show AGGGTGTGAAATCTGCGATCCTGGAAGTTTTGGTTTTTTAAGAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0149 a0001c0006t0001g0149	1	432	0.0023	47	c.-34 others(58): Show c.-3454_-3453insCTGTCTCTTAAAAAACCAAAACTTCCAGGATCGC AGATTTCACACCC	ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding		3177		chr9	TogoVar
ATP10B_chr5_160558120_160857211	160652916	T T	TATATATT others(40): Show TATATATTATATATACATGTACATATAATATATTATATATACATGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0008 a0001c0028t0008	a0001c0028t0008g0029 a0001c0028t0008g0029	1	236	0.0042	47	c.676 others(64): Show c.676-3661_676-3660insGTACATGTATATATAATATATTATATGT ACATGTATATATAATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160652947	A A	AATATATT others(40): Show AATATATTATATATACATGTATATATAATATATTATATATACATGTAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	236	0.0042	47	c.676 others(64): Show c.676-3692_676-3691insATACATGTATATATAATATATTATATAT ACATGTATATATAATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787169	C C	CGTAGACT others(40): Show CGTAGACTCCTGTGGAGACCTACTTAATCCACACCAGTGTCCTAATGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02976.hp1 others(3): Show HG02572.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0019 others(2): Show a0001c0002 a0001c0014 a0001c0019 a0001c0042 a0001c0046	a0001c0002t0014 a0001c0014t0003 a0001c0014t0043 others(3): Show a0001c0002t0014 a0001c0014t0003 a0001c0014t0043 a0001c0019t0015 a0001c0042t0044 a0001c0046t0016	a0001c0002t0014g0197 a0001c0014t0003g0178 a0001c0014t0043g0056 others(3): Show a0001c0002t0014g0197 a0001c0014t0003g0178 a0001c0014t0043g0056 a0001c0019t0015g0147 a0001c0042t0044g0148 a0001c0046t0016g0062	6	254	0.0236	47	c.162 others(64): Show c.162+1918_162+1919insTCCTGTGGAGACCTACTTAATCCACACC AGTGTCCTAATGTGTAGAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804113	T T	TCCTCCTT others(40): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	254	0.0039	47	c.163 others(62): Show c.163-837_163-836insTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTTCCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP5F1D_chr19_1236751_1249825	1240248	G G	GGCGCCAT others(40): Show GGCGCCATCCCCGATTCCGCATTTTCCCGGAGCCTAAGGAGCGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	412	0.0024	47	c.-16 others(58): Show c.-1603_-1602insGCGCCATCCCCGATTCCGCATTTTCCCGGAGCCT AAGGAGCGGGGCT	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		1502		chr19	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718677	G G	GGGGGTGC others(40): Show GGGGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01516.hp1 HG01517.hp1 others(3): Show HG01257.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp2 HG02965.hp1 HG03130.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0349 a0002c0002t0001g0360 a0003c0004t0001g0022 others(3): Show a0001c0001t0001g0349 a0002c0002t0001g0360 a0003c0004t0001g0022 a0003c0004t0001g0252 a0003c0004t0001g0339 a0005c0006t0001g0031	6	376	0.0160	47	c.214 others(66): Show c.2140-2797_2140-2796insATTCCTTCCTGGACGTCTCCCTCCGC AGACATCCGTGACTGCACCCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861823	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	442	0.0023	47	c.-45 others(58): Show c.-4587_-4586insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		4506		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128861823	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	47	c.-10 others(58): Show c.-1082_-1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		1032		chr7	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0001 a0001c0014t0015g0001	1	220	0.0046	47	c.346 others(64): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATATATATATAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(40): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03239.hp1 HG03540.hp1 others(1): Show HG02135.hp1 HG03239.hp1 HG03540.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0002g0142 a0001c0001t0004g0124 a0001c0001t0010g0228 others(1): Show a0001c0001t0002g0142 a0001c0001t0004g0124 a0001c0001t0010g0228 a0001c0001t0023g0247	4	252	0.0159	47	c.355 others(66): Show c.355+56855_355+56856insCTTTTCTTTTCTTTTCTTTTCTCTTT TCTTTTCTTTTCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp2 HG02886.hp1 others(1): Show HG00099.hp1 HG01433.hp2 HG02886.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0002g0049 a0001c0001t0002g0052 others(1): Show a0001c0001t0001g0058 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0007g0055	4	76	0.0526	47	c.309 others(66): Show c.309+14405_309+14406insCTTTCTTTCTTTCTTTCTTTTCTTTC TTTTCTTTCTTTCTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AXIN1_chr16_282440_357723	285925	T T	TCCCAACC others(40): Show TCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0037 a0003c0008t0007 a0003c0008t0037	a0003c0008t0007g0272 a0003c0008t0007g0274 a0003c0008t0037g0273 a0003c0008t0007g0272 a0003c0008t0007g0274 a0003c0008t0037g0273	3	378	0.0079	47	c.21 others(58): Show c.2196_*2197insGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGG GGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1514		chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167330299	T T	TCGGCCTC others(40): Show TCGGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show HG02258.hp1 HG02922.hp1 HG03098.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0003t0044	a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(2): Show a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 a0001c0001t0024g0091 a0001c0003t0044g0115	5	118	0.0424	47	c.-51 others(68): Show c.-511+36965_-511+36966insCGGCCTCCCAAAGTGCTGGGATCA CAGGCGTGAGCCACCGCGCCCGG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167680513	A A	ATCACTAA others(40): Show ATCACTAAAGAACCAAGCCTCCAAAGCATTTGACACTGGATGAGAATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp2 HG02257.hp1 others(9): Show HG01255.hp1 HG01258.hp2 HG02257.hp1 HG02922.hp1 HG03225.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG04204.hp2 NA19007.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0047 a0001c0001t0050	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0005g0012 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0005g0012 a0001c0001t0005g0024 a0001c0001t0006g0106 a0001c0001t0007g0042 a0001c0001t0007g0100 a0001c0001t0020g0063 a0001c0001t0023g0037 a0001c0001t0024g0091 a0001c0001t0047g0019 a0001c0001t0050g0118	12	118	0.1017	47	c.-35 others(68): Show c.-352+33548_-352+33549insCACTAAAGAACCAAGCCTCCAAAG CATTTGACACTGGATGAGAATTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83022252	T T	TGTGAACT others(40): Show TGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02818.hp1 others(7): Show HG02280.hp1 HG02451.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0019 a0001c0001 a0001c0003 a0004c0019	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0004c0019t0004	a0001c0001t0004g0247 a0001c0001t0014g0248 a0001c0001t0015g0249 others(7): Show a0001c0001t0004g0247 a0001c0001t0014g0248 a0001c0001t0015g0249 a0001c0003t0014g0194 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0004c0019t0004g0193	10	266	0.0376	47	c.298 others(64): Show c.298-7780_298-7734dupGCTGGTGCAGGTGGGGCGGGGACAGTGC TAAGCTCATGTGAGTTCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022265	G G	GAGCTTAG others(40): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0062 a0002c0005t0003g0062	1	266	0.0038	47	c.298 others(64): Show c.298-7747_298-7746insAACGTGAGTTCACGCTGGTGCAGGTGGG CCGGGGACAGTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022284	C C	CCCCACCT others(40): Show CCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(46): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00735.hp2 HG01081.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG02027.hp2 HG02056.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp1 NA19064.hp1 NA19070.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0020 a0002c0009 a0002c0010 a0006c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0019 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0020t0005 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0006c0018t0005	a0001c0001t0002g0163 a0001c0001t0004g0227 a0001c0001t0004g0253 others(45): Show a0001c0001t0002g0163 a0001c0001t0004g0227 a0001c0001t0004g0253 a0001c0001t0006g0157 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0010g0185 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0074 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0006g0070 a0001c0002t0006g0071 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0019g0115 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0004g0223 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0008t0004g0214 a0001c0008t0005g0208 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0008t0038g0215 a0001c0020t0005g0218 a0002c0009t0013g0087 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118 a0002c0010t0007g0004 a0002c0010t0007g0216 a0002c0010t0007g0224 a0006c0018t0005g0196	49	266	0.1842	47	c.298 others(64): Show c.298-7812_298-7766dupCCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022299	C C	CGTGAACT others(40): Show CGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCAGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02300.hp2 HG02004.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	266	0.0075	47	c.298 others(64): Show c.298-7781_298-7780insACTGGTGCAGGTGGGGCGGGGACAGTGC TAAGCTCATGTGAGTTCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022299	C C	CGTGAACT others(40): Show CGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0007 a0001c0006t0002g0007	1	266	0.0038	47	c.298 others(64): Show c.298-7781_298-7780insACTGGTGCAGGTGGGCCGGGGACAGTGC TAAGCTCATGTGAGTTCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar

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