Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
ATP9A_chr20_51591514_51773390	51651255	A A	AATATATT others(20): Show AATATATTATATAATATATATTTACATT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02056.hp1 NA19056.hp2 HG01257.hp1 HG02056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0035 a0001c0001t0007 a0001c0001t0030 a0001c0001t0035	a0001c0001t0007g0267 a0001c0001t0030g0214 a0001c0001t0035g0194 a0001c0001t0007g0267 a0001c0001t0030g0214 a0001c0001t0035g0194	3	312	0.0096	27	c.150 others(46): Show c.1506+5682_1506+5683insAATGTAAATATATATTATATAATATA T		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651282	A A	AATATATT others(20): Show AATATATTATATAATATATATTTACATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(49): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01358.hp2 HG01433.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp2 NA18943.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp2 NA19056.hp1 NA19065.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0058 a0001c0001t0061 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0081 a0001c0007t0001 a0001c0011t0048	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 others(49): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0168 a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0001t0002g0191 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0166 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0302 a0001c0001t0004g0106 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0006g0229 a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0299 a0001c0001t0008g0082 a0001c0001t0009g0020 a0001c0001t0010g0034 a0001c0001t0010g0192 a0001c0001t0010g0272 a0001c0001t0011g0021 a0001c0001t0019g0248 a0001c0001t0019g0308 a0001c0001t0022g0028 a0001c0001t0022g0103 a0001c0001t0023g0036 a0001c0001t0023g0042 a0001c0001t0023g0100 a0001c0001t0024g0045 a0001c0001t0025g0019 a0001c0001t0030g0257 a0001c0001t0034g0159 a0001c0001t0036g0096 a0001c0001t0058g0076 a0001c0001t0061g0014 a0001c0001t0072g0217 a0001c0001t0073g0219 a0001c0001t0074g0141 a0001c0001t0077g0008 a0001c0001t0081g0058 a0001c0007t0001g0023 a0001c0011t0048g0209	52	312	0.1667	27	c.150 others(46): Show c.1506+5655_1506+5656insAATGTAAATATATATTATATAATATA T		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51651341	A A	ATTATATA others(20): Show ATTATATAATATATATTTACATTATATG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	312	0.0032	27	c.150 others(46): Show c.1506+5596_1506+5597insCATATAATGTAAATATATATTATATA A		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51772010	C C	CAATCAGC others(20): Show CAATCAGCCTAAGTAGCTGGGGCTAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0044 a0001c0002t0032g0044	1	312	0.0032	27	c.-36 others(38): Show c.-3642_-3641insTGTTAGCCCCAGCTACTTAGGCTGATT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding					3621		chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01981.hp1 others(1): Show HG00140.hp1 HG00735.hp1 HG01981.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0010g0050	4	298	0.0134	27	c.119 others(44): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	128	0.0078	27	c.401 others(46): Show c.4018+8459_4018+8460insAAAAAAAAAAAAAAAAAAAAAAAAAA A		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0203 a0001c0007t0006g0203	1	220	0.0046	27	c.411 others(46): Show c.411-23145_411-23144insATATATATATATATATATATATATTT T		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	218	0.0046	27	c.621 others(46): Show c.6217+4224_6217+4250dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19009.hp1 HG02080.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0147 a0001c0001t0002g0129 a0001c0001t0002g0147	2	218	0.0092	27	c.455 others(44): Show c.4557+870_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	322	0.0031	27	c.335 others(46): Show c.3358-1722_3358-1696dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02895.hp2 HG03927.hp2 others(2): Show HG01074.hp2 HG02895.hp2 HG03927.hp2 NA19030.hp1 NA19240.hp2	a0001 a0021 a0022 others(2): Show a0001 a0021 a0022 a0035 a0037	a0001c0001 a0021c0021 a0022c0019 others(2): Show a0001c0001 a0021c0021 a0022c0019 a0035c0036 a0037c0032	a0001c0001t0001 a0021c0021t0004 a0022c0019t0001 others(2): Show a0001c0001t0001 a0021c0021t0004 a0022c0019t0001 a0035c0036t0007 a0037c0032t0002	a0001c0001t0001g0037 a0021c0021t0004g0069 a0022c0019t0001g0025 others(2): Show a0001c0001t0001g0037 a0021c0021t0004g0069 a0022c0019t0001g0025 a0035c0036t0007g0019 a0037c0032t0002g0170	5	182	0.0275	27	c.-16 others(48): Show c.-161+45323_-161+45324insCTTTCTTTTTTTTTTTTTTTTTTT TTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02895.hp1 NA18944.hp1 others(3): Show HG02132.hp2 HG02895.hp1 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA19009.hp2	a0004 a0005 a0011 others(1): Show a0004 a0005 a0011 a0020	a0004c0005 a0004c0023 a0005c0006 others(2): Show a0004c0005 a0004c0023 a0005c0006 a0011c0007 a0020c0020	a0004c0005t0002 a0004c0023t0009 a0005c0006t0003 others(2): Show a0004c0005t0002 a0004c0023t0009 a0005c0006t0003 a0011c0007t0002 a0020c0020t0032	a0004c0005t0002g0167 a0004c0023t0009g0110 a0005c0006t0003g0057 others(3): Show a0004c0005t0002g0167 a0004c0023t0009g0110 a0005c0006t0003g0057 a0011c0007t0002g0040 a0011c0007t0002g0172 a0020c0020t0032g0099	6	182	0.0330	27	c.-16 others(48): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(20): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	27	c.-32 others(36): Show c.-325_-324insCCCCCCCCCCCCCCCCCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19070.hp2 NA18955.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0074 a0002c0002t0001g0012 a0002c0002t0001g0074	2	298	0.0067	27	c.251 others(44): Show c.251+9766_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(20): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00280.hp1 HG00735.hp2 others(41): Show HG00140.hp1 HG00280.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02602.hp1 HG02886.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA20805.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0017 a0002c0002t0018 others(10): Show a0002c0002t0003 a0002c0002t0017 a0002c0002t0018 a0002c0002t0040 a0002c0002t0089 a0002c0002t0108 a0002c0002t0109 a0002c0002t0111 a0002c0007t0007 a0002c0007t0015 a0002c0007t0025 a0002c0007t0091 a0002c0007t0092	a0002c0002t0003g0008 a0002c0002t0003g0131 a0002c0002t0003g0132 others(39): Show a0002c0002t0003g0008 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0143 a0002c0002t0003g0152 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0017g0361 a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0206 a0002c0002t0040g0183 a0002c0002t0040g0196 a0002c0002t0089g0382 a0002c0002t0108g0119 a0002c0002t0109g0178 a0002c0002t0111g0353 a0002c0007t0007g0316 a0002c0007t0007g0332 a0002c0007t0007g0333 a0002c0007t0007g0341 a0002c0007t0007g0346 a0002c0007t0007g0348 a0002c0007t0015g0342 a0002c0007t0015g0345 a0002c0007t0015g0349 a0002c0007t0015g0350 a0002c0007t0025g0007 a0002c0007t0025g0334 a0002c0007t0091g0344 a0002c0007t0092g0330	44	402	0.1095	27	c.915 others(34): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln297_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	252	0.0040	27	c.151 others(46): Show c.1517+1059_1517+1060insAAAAAAAAAAAAAAAAAAAAAAAAAA A		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105648930	G G	GTCTAATC others(20): Show GTCTAATCACAGTAACGCAAACACTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0044 a0002c0002t0030 a0006c0010t0031	a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0211 others(14): Show a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0006g0116 a0001c0001t0006g0197 a0001c0001t0007g0217 a0001c0001t0016g0069 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0017g0195 a0001c0001t0018g0058 a0001c0001t0021g0184 a0001c0001t0027g0008 a0001c0001t0044g0110 a0002c0002t0030g0212 a0006c0010t0031g0204	17	252	0.0675	27	c.579 others(44): Show c.579-5810_579-5809insGAGAGTGTTTGCGTTACTGTGATTAGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(20): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG00741.hp2 others(37): Show HG00558.hp1 HG00738.hp2 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 NA18906.hp2 NA18943.hp2 NA18957.hp1 NA18962.hp1 NA18989.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19067.hp2 NA19068.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0055 a0002c0002t0022	a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0181 others(37): Show a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0181 a0001c0001t0002g0010 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0090 a0001c0001t0003g0171 a0001c0001t0005g0206 a0001c0001t0005g0248 a0001c0001t0006g0022 a0001c0001t0008g0089 a0001c0001t0008g0175 a0001c0001t0009g0013 a0001c0001t0009g0103 a0001c0001t0010g0111 a0001c0001t0014g0166 a0001c0001t0016g0136 a0001c0001t0019g0062 a0001c0001t0021g0130 a0001c0001t0023g0183 a0001c0001t0024g0250 a0001c0001t0029g0072 a0001c0001t0034g0068 a0001c0001t0040g0207 a0001c0001t0041g0196 a0001c0001t0043g0105 a0001c0001t0046g0138 a0001c0001t0047g0121 a0001c0001t0051g0035 a0001c0001t0055g0252 a0002c0002t0022g0066 a0002c0002t0022g0220	40	252	0.1587	27	c.355 others(46): Show c.355+56855_355+56856insCTCTTTTCTTTTCTTTTCTTTTCTTT T		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0031 a0001c0001t0053g0031	1	252	0.0040	27	c.355 others(46): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAAA A		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0021 a0001c0001t0028g0021	1	76	0.0132	27	c.310 others(46): Show c.310-26426_310-26425insTTTTTTTTTTTTTTTTTTTTTTTTTT T		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	76	0.0132	27	c.660 others(46): Show c.660+50687_660+50713dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp2 HG01258.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	266	0.0075	27	c.446 others(46): Show c.446-23492_446-23466dupAAAAAAAAAAAAAAAAAAAAAAAAAA A		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32503406	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0280 a0001c0001t0096g0280	1	330	0.0030	27	c.93+ others(42): Show c.93+7604_93+7605insCACACACACACACACACACACACACAC		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15						chr7	TogoVar
AZU1_chr19_822837_837018	834904	C C	CGTGATCC others(20): Show CGTGATCCGCCCGCCTCAGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	391	0.0026	27	c.30 others(38): Show c.3027_*3028insGTGATCCGCCCGCCTCAGCCTCCCAAA		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					2887		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167387012	C C	CATCATAT others(20): Show CATCATATCATATCATATATCATATCAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA19240.hp2 HG02258.hp1 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0024 a0001c0001t0002 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0094 a0001c0001t0018g0093 a0001c0001t0024g0091 a0001c0001t0002g0094 a0001c0001t0018g0093 a0001c0001t0024g0091	3	118	0.0254	27	c.-51 others(48): Show c.-511+93695_-511+93696insATCATATCATATCATATCATATCA TAT		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0019 a0002c0002t0017g0019	1	268	0.0037	27	c.-38 others(38): Show c.-3878_-3877insTATATATATATATATATATATATATTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18984.hp2 NA19057.hp2 HG01891.hp1 NA18984.hp2 NA19057.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0008 a0006c0012 a0001c0001 a0002c0008 a0006c0012	a0001c0001t0001 a0002c0008t0002 a0006c0012t0004 a0001c0001t0001 a0002c0008t0002 a0006c0012t0004	a0001c0001t0001g0152 a0002c0008t0002g0063 a0006c0012t0004g0059 a0001c0001t0001g0152 a0002c0008t0002g0063 a0006c0012t0004g0059	3	268	0.0112	27	c.-38 others(38): Show c.-3878_-3877insTATATATATATATATATATATATTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01167.hp1 others(1): Show HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0004 a0001c0001t0005 a0003c0004t0004	a0001c0001t0005g0207 a0003c0004t0004g0205 a0003c0004t0004g0208 others(1): Show a0001c0001t0005g0207 a0003c0004t0004g0205 a0003c0004t0004g0208 a0003c0004t0004g0209	4	268	0.0149	27	c.-38 others(38): Show c.-3878_-3877insTATATATATATATATATATTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp2 NA18747.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0101 a0001c0001t0001g0194 a0002c0002t0003g0077 a0001c0001t0001g0101 a0001c0001t0001g0194 a0002c0002t0003g0077	3	268	0.0112	27	c.-38 others(38): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	268	0.0037	27	c.-38 others(38): Show c.-3878_-3877insTATATATATATATATTTTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0168 a0001c0001t0004g0164 a0001c0001t0004g0168	2	390	0.0051	27	c.-30 others(44): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTTTT		B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	83039548	G G	GGCGCCTG others(20): Show GGCGCCTGCCGCCCGAACCTGTTCTAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG03225.hp2 HG02055.hp1 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0012 a0001c0011t0010 a0001c0011t0017 a0001c0001t0012 a0001c0011t0010 a0001c0011t0017	a0001c0001t0012g0148 a0001c0011t0010g0147 a0001c0011t0017g0145 a0001c0001t0012g0148 a0001c0011t0010g0147 a0001c0011t0017g0145	3	266	0.0113	27	c.233 others(44): Show c.233-4450_233-4449insTCTAGAACAGGTTCGGGCGGCAGGCGC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00741.hp2 others(21): Show HG00597.hp2 HG00673.hp2 HG00741.hp2 HG01258.hp1 HG02040.hp2 HG02895.hp1 HG03195.hp1 HG04184.hp2 HG04228.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18971.hp1 NA18979.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19088.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0005c0006 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0045 a0001c0002t0002 a0001c0002t0019 a0001c0010t0002 a0002c0003t0001 a0002c0003t0007 a0002c0003t0033 a0002c0003t0071 a0005c0006t0035 a0007c0008t0007 a0007c0008t0068	a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0375 others(21): Show a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0375 a0001c0001t0002g0052 a0001c0001t0002g0073 a0001c0001t0003g0074 a0001c0001t0003g0135 a0001c0001t0007g0072 a0001c0001t0007g0120 a0001c0001t0009g0071 a0001c0001t0015g0360 a0001c0001t0015g0365 a0001c0001t0015g0377 a0001c0001t0045g0359 a0001c0002t0002g0363 a0001c0002t0019g0012 a0001c0010t0002g0098 a0002c0003t0001g0159 a0002c0003t0007g0156 a0002c0003t0033g0076 a0002c0003t0071g0296 a0005c0006t0035g0356 a0007c0008t0007g0287 a0007c0008t0068g0308	24	394	0.0609	27	c.170 others(46): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT T		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	370003	G G	GGGCGCGG others(20): Show GGGCGCGGGGGGCGCGGGGGGCGCGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01978.hp1 others(15): Show HG00099.hp2 HG00544.hp1 HG01978.hp1 HG02132.hp1 HG02148.hp2 HG02300.hp1 HG02683.hp1 HG03239.hp2 HG03490.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA19057.hp1 NA19081.hp1 NA19088.hp1	a0002 a0005 a0022 a0002 a0005 a0022	a0002c0002 a0002c0007 a0002c0033 others(2): Show a0002c0002 a0002c0007 a0002c0033 a0005c0009 a0022c0029	a0002c0002t0001 a0002c0002t0003 a0002c0007t0001 others(3): Show a0002c0002t0001 a0002c0002t0003 a0002c0007t0001 a0002c0033t0001 a0005c0009t0001 a0022c0029t0001	a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 others(15): Show a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0003g0140 a0002c0007t0001g0132 a0002c0007t0001g0136 a0002c0033t0001g0144 a0005c0009t0001g0131 a0005c0009t0001g0138 a0022c0029t0001g0135	18	184	0.0978	27	c.151 others(40): Show c.151+66_151+67insGGGCGCGGGCGGCGCGGGGGGCGCGGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	372542	C C	CGGGCATT others(20): Show CGGGCATTTAGGGCTGTGTGGATACATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	184	0.0054	27	c.256 others(41): Show c.256-119_256-93dupGGGCATTTAGGGCTGTGTGGATACATG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374774	G G	GGAGGAGG others(20): Show GGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	184	0.0054	27	c.784 others(42): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGGAGGAGGA		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19						chr11	TogoVar
B4GALT5_chr20_49627945_49718878	49643922	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0179 a0001c0001t0006g0176 a0001c0001t0006g0179	2	364	0.0055	27	c.365 others(42): Show c.365-273_365-272insAAAAAAAAAAAAAAAAAAAAAAAAAAA		B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	3/8						chr20	TogoVar
BABAM2_chr2_27885729_28343901	28112169	C C	CCCTTCCT others(20): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	158	0.0063	27	c.571 others(46): Show c.571-17099_571-17098insTCCTTCCTTCCTTCTCCCTTCCTTCC T		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112173	C C	CCCTTCCT others(20): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	158	0.0063	27	c.571 others(46): Show c.571-17095_571-17094insTCCTTCCTTCCTTCTCCCTTCCTTCC T		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112181	C C	CCCTTCCT others(20): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	158	0.0063	27	c.571 others(46): Show c.571-17087_571-17086insTCCTTCCTTCCTTCTCCCTTCCTTCC T		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03486.hp1 NA20129.hp1 HG02148.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0002g0103 a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0002g0103	3	158	0.0190	27	c.680 others(46): Show c.680+47190_680+47216dupAAAAAAAAAAAAAAAAAAAAAAAAAA A		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18946.hp1 NA18979.hp1 HG01261.hp1 NA18946.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0080 a0001c0003t0062 a0001c0005t0073 a0001c0002t0080 a0001c0003t0062 a0001c0005t0073	a0001c0002t0080g0075 a0001c0003t0062g0048 a0001c0005t0073g0077 a0001c0002t0080g0075 a0001c0003t0062g0048 a0001c0005t0073g0077	3	194	0.0155	27	c.-16 others(46): Show c.-161-3183_-161-3182insATATATATATATATATATATTTTTTT T		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG02109.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0137 a0001c0001t0041 a0001c0001t0137	a0001c0001t0041g0015 a0001c0001t0137g0194 a0001c0001t0041g0015 a0001c0001t0137g0194	2	194	0.0103	27	c.-16 others(48): Show c.-161-13921_-161-13920insAAAAAAATATATATATATATATAT ATA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BAG3_chr10_119646380_119682819	119675895	T T	TCCTTCCT others(20): Show TCCTTCCTTCCCCCCTTCCCCTTTTCCC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	420	0.0024	27	c.910 others(42): Show c.910-563_910-562insTTCCCCCCTTCCCCTTTTCCCCCTTCC		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04184.hp2 NA18946.hp1 HG02970.hp1 HG04184.hp2 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0193 a0001c0002t0001g0204 a0001c0002t0001g0150 a0001c0002t0001g0193 a0001c0002t0001g0204	3	298	0.0101	27	c.128 others(44): Show c.128-1893_128-1892insATATATATATATATATTTTTTTTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18951.hp2 HG00280.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0195 a0001c0002t0001g0155 a0001c0002t0001g0195	2	298	0.0067	27	c.128 others(44): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04115.hp1 HG00408.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0228 a0001c0002t0001g0209 a0001c0002t0001g0228	2	298	0.0067	27	c.128 others(44): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02273.hp1 NA18960.hp2 HG00597.hp1 HG02273.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0044 a0002c0002t0002 a0001c0001t0044 a0002c0002t0002	a0001c0001t0044g0059 a0002c0002t0002g0096 a0002c0002t0002g0099 a0001c0001t0044g0059 a0002c0002t0002g0096 a0002c0002t0002g0099	3	376	0.0080	27	c.130 others(44): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTTT		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13						chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01167.hp1 others(6): Show HG00099.hp1 HG01081.hp2 HG01167.hp1 HG02258.hp2 HG03239.hp1 HG03490.hp1 HG03927.hp2 HG03942.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0036 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0036 a0001c0001t0003g0050	9	436	0.0206	27	c.15 others(38): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAA		BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding					1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	102007066	T T	TTATATAT others(20): Show TTATATATATAAATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02809.hp2 others(4): Show HG02647.hp2 HG02723.hp2 HG02809.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0003 a0005c0006t0003 a0001c0002t0003 a0005c0006t0003	a0001c0002t0003g0166 a0001c0002t0003g0249 a0001c0002t0003g0251 others(4): Show a0001c0002t0003g0166 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0253 a0005c0006t0003g0264 a0005c0006t0003g0265 a0005c0006t0003g0278	7	284	0.0247	27	c.120 others(48): Show c.1207-14447_1207-14446insATATATATAAATATATTATATATA TAT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr4	TogoVar

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