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
ATP9A_chr20_51591514_51773390	51642726	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0116 a0001c0005t0046g0116	1	312	0.0032	-19	c.150 others(38): Show c.1507-3241_1507-3223delTTTTTTTTTTTTTTTTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51645522	CAAACAAA others(12): Show CAAACAAAAACAAACAAACA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18982.hp1 NA18998.hp2 others(1): Show NA18966.hp1 NA18982.hp1 NA18998.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0001c0001t0055 a0001c0001t0059 others(1): Show a0001c0001t0001 a0001c0001t0055 a0001c0001t0059 a0002c0012t0002	a0001c0001t0001g0247 a0001c0001t0055g0260 a0001c0001t0059g0256 others(1): Show a0001c0001t0001g0247 a0001c0001t0055g0260 a0001c0001t0059g0256 a0002c0012t0002g0240	4	312	0.0128	-19	c.150 others(38): Show c.1507-6037_1507-6019delTGTTTGTTTGTTTTTGTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51710639	ATTCAGAA others(12): Show ATTCAGAACTGTGTTCTGTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	312	0.0032	-19	c.436 others(36): Show c.436+2308_436+2326delAACAGAACACAGTTCTGAA		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	4/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79155751	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 NA18961.hp2 others(1): Show HG01261.hp1 HG01981.hp2 NA18961.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0003 a0001c0015t0001 a0001c0003t0003 a0001c0015t0001	a0001c0003t0003g0123 a0001c0003t0003g0143 a0001c0003t0003g0145 others(1): Show a0001c0003t0003g0123 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0015t0001g0132	4	298	0.0134	-19	c.778 others(36): Show c.778+1198_778+1216delCTTTTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79354594	AAACCCAG others(12): Show AAACCCAGCCCCACTTCCGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	-19	c.290 others(38): Show c.2904-4759_2904-4741delAACCCAGCCCCACTTCCGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29						chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019634	GACAGTGT others(12): Show GACAGTGTAAGTCCAACCAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp2 HG02109.hp2 HG02615.hp2 HG03471.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0219 others(3): Show a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0219 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0258	9	328	0.0274	-19	c.733 others(34): Show c.733-967_733-949delTTGGTTGGACTTACACTGT		ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7						chr17	TogoVar
ATRIP_chr3_48441737_48472645	48465426	GACCTGCC others(12): Show GACCTGCCCTAGGCCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18954.hp1 NA18979.hp1 others(1): Show HG00609.hp1 NA18954.hp1 NA18979.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	4	360	0.0111	-19	c.230 others(34): Show c.2309-56_2309-38delGCCCTAGGCCCTGGCACCT		ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02300.hp1 HG02965.hp2 others(4): Show HG01884.hp1 HG02300.hp1 HG02965.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0001c0003 a0008c0031 others(1): Show a0001c0001 a0001c0003 a0008c0031 a0012c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0037 a0008c0031t0036 a0012c0029t0002	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0002g0118 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0002g0118 a0001c0001t0009g0022 a0001c0003t0037g0194 a0008c0031t0036g0139 a0012c0029t0002g0122	7	220	0.0318	-19	c.386 others(38): Show c.3864-3365_3864-3347delTTTTTTTTTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	218	0.0046	-19	c.621 others(38): Show c.6217+4232_6217+4250delTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	218	0.0046	-19	c.133 others(36): Show c.133+1002_133+1020delAAAAAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716127	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(66): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02273.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0006 a0002c0002 a0002c0004 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0004t0001 a0002c0004t0003 a0003c0006t0001	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 others(66): Show a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0097 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0204 a0002c0002t0001g0209 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0037 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0065 a0002c0002t0002g0110 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0177 a0002c0002t0006g0056 a0002c0002t0013g0008 a0002c0002t0015g0043 a0002c0002t0016g0046 a0002c0004t0001g0009 a0002c0004t0001g0023 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0003g0030 a0003c0006t0001g0015 a0003c0006t0001g0159	69	218	0.3165	-19	c.133 others(35): Show c.133+985_133+1003delCAAAAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716128	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTGA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	218	0.0046	-19	c.133 others(35): Show c.133+984_133+1002delTCAAAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77777191	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0078 a0001c0001t0021g0078	1	218	0.0046	-19	c.20+ others(34): Show c.20+8772_20+8790delTTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp2 others(41): Show HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01255.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG03471.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18956.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19056.hp1 NA19062.hp1 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0147 others(41): Show a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0309 a0001c0001t0001g0315 a0001c0001t0003g0308 a0001c0001t0004g0140 a0001c0001t0007g0204	44	316	0.1392	-19	c.117 others(40): Show c.1173+12869_1173+12887delTTTTTTTTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0001 a0035 a0001 a0035	a0001c0028 a0035c0036 a0001c0028 a0035c0036	a0001c0028t0015 a0035c0036t0007 a0001c0028t0015 a0035c0036t0007	a0001c0028t0015g0017 a0035c0036t0007g0019 a0001c0028t0015g0017 a0035c0036t0007g0019	2	182	0.0110	-19	c.-16 others(40): Show c.-160-73791_-160-73773delAAAAAAAAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19067.hp1 NA18948.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0014 a0001c0001t0005 a0001c0008t0014	a0001c0001t0005g0025 a0001c0008t0014g0165 a0001c0001t0005g0025 a0001c0008t0014g0165	2	252	0.0079	-19	c.151 others(36): Show c.1517+657_1517+675delAAAAAAAAAAAAATATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619526	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp1 NA18989.hp2 others(3): Show HG01891.hp1 HG02071.hp1 NA18989.hp2 NA19056.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0007 a0001c0001t0002 a0001c0005t0007	a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0142 others(3): Show a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0005t0007g0209	6	252	0.0238	-19	c.151 others(36): Show c.1517+655_1517+673delAAAAAAAAAAAAAAATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01952.hp1 NA19087.hp1 HG01192.hp2 HG01952.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0023 a0001c0001t0016g0061 a0001c0001t0016g0176 a0001c0001t0004g0023 a0001c0001t0016g0061 a0001c0001t0016g0176	3	252	0.0119	-19	c.151 others(36): Show c.1517+653_1517+671delAAAAAAAAAAAAAAAAATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0132 a0001c0001t0048g0132	1	252	0.0040	-19	c.151 others(36): Show c.1517+651_1517+669delAAAAAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641212	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18948.hp1 NA18950.hp1 others(2): Show HG02027.hp1 NA18948.hp1 NA18950.hp1 NA18989.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023	a0001c0001t0002g0042 a0001c0001t0002g0177 a0001c0001t0009g0141 others(2): Show a0001c0001t0002g0042 a0001c0001t0002g0177 a0001c0001t0009g0141 a0001c0001t0011g0170 a0001c0001t0023g0183	5	252	0.0198	-19	c.862 others(36): Show c.862+1607_862+1625delAAAAAAAAAAAAAAAAAGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105663743	AAATGAAT others(12): Show AAATGAATTAAAAGCCTCAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02630.hp2 others(4): Show HG01884.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG03130.hp2 HG03139.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0027 a0001c0001t0053 a0007c0009t0007	a0001c0001t0003g0070 a0001c0001t0007g0144 a0001c0001t0008g0075 others(4): Show a0001c0001t0003g0070 a0001c0001t0007g0144 a0001c0001t0008g0075 a0001c0001t0008g0216 a0001c0001t0027g0134 a0001c0001t0053g0031 a0007c0009t0007g0096	7	252	0.0278	-19	c.578 others(36): Show c.578+1304_578+1322delCTGAGGCTTTTAATTCATT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105742777	TATTTTAA others(12): Show TATTTTAATTTTAAACATAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0031 a0006c0010t0031	a0006c0010t0031g0204 a0006c0010t0031g0204	1	252	0.0040	-19	c.355 others(38): Show c.355+45808_355+45826delTTATGTTTAAAATTAAAAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7_chr3_63858867_64008462	63863941	GCGCCGCG others(12): Show GCGCCGCGCCGCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show HG00544.hp1 HG00597.hp1 HG00735.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03453.hp2 HG03669.hp2 HG03710.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA19002.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20905.hp1	a0003 a0005 a0017 others(5): Show a0003 a0005 a0017 a0019 a0024 a0025 a0027 a0028	a0003c0004 a0005c0005 a0005c0026 others(7): Show a0003c0004 a0005c0005 a0005c0026 a0017c0033 a0017c0034 a0019c0016 a0024c0022 a0025c0023 a0027c0021 a0028c0019	a0003c0004t0003 a0003c0004t0022 a0003c0004t0023 others(13): Show a0003c0004t0003 a0003c0004t0022 a0003c0004t0023 a0003c0004t0031 a0003c0004t0032 a0003c0004t0033 a0005c0005t0003 a0005c0026t0003 a0017c0033t0003 a0017c0034t0003 a0019c0016t0003 a0019c0016t0034 a0024c0022t0003 a0025c0023t0003 a0027c0021t0003 a0028c0019t0003	a0003c0004t0003g0158 a0003c0004t0003g0168 a0003c0004t0003g0169 others(47): Show a0003c0004t0003g0158 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0003g0172 a0003c0004t0003g0173 a0003c0004t0003g0174 a0003c0004t0003g0179 a0003c0004t0003g0190 a0003c0004t0003g0192 a0003c0004t0003g0193 a0003c0004t0003g0194 a0003c0004t0003g0196 a0003c0004t0003g0199 a0003c0004t0003g0201 a0003c0004t0003g0204 a0003c0004t0003g0205 a0003c0004t0003g0206 a0003c0004t0022g0167 a0003c0004t0022g0195 a0003c0004t0023g0159 a0003c0004t0023g0175 a0003c0004t0031g0198 a0003c0004t0032g0202 a0003c0004t0033g0171 a0005c0005t0003g0160 a0005c0005t0003g0163 a0005c0005t0003g0164 a0005c0005t0003g0176 a0005c0005t0003g0177 a0005c0005t0003g0178 a0005c0005t0003g0180 a0005c0005t0003g0181 a0005c0005t0003g0182 a0005c0005t0003g0183 a0005c0005t0003g0185 a0005c0005t0003g0186 a0005c0005t0003g0188 a0005c0005t0003g0189 a0005c0005t0003g0191 a0005c0005t0003g0200 a0005c0026t0003g0162 a0017c0033t0003g0207 a0017c0034t0003g0161 a0019c0016t0003g0203 a0019c0016t0034g0197 a0024c0022t0003g0165 a0025c0023t0003g0187 a0027c0021t0003g0184 a0028c0019t0003g0166	50	300	0.1667	-19	c.-32 others(28): Show c.-321_-303delGCCGCGCCGCCGCCGCCGC		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/13				48633	INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20752.hp1 NA21309.hp1 HG03516.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018	a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003	3	76	0.0395	-19	c.310 others(36): Show c.310-7493_310-7475delTTTTTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69975137	GTCTTTTT others(12): Show GTCTTTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	76	0.0132	-19	c.522 others(38): Show c.522+75652_522+75670delTTTCTTTTCTTTTTCTTTC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02165.hp2 HG03017.hp2 others(3): Show HG01243.hp2 HG02165.hp2 HG03017.hp2 HG03453.hp1 HG03516.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 others(2): Show a0001c0001t0005 a0001c0001t0022 a0001c0001t0025 a0001c0007t0006 a0002c0002t0001	a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0022g0032 others(3): Show a0001c0001t0005g0020 a0001c0001t0005g0028 a0001c0001t0022g0032 a0001c0001t0025g0050 a0001c0007t0006g0027 a0002c0002t0001g0057	6	76	0.0790	-19	c.54 others(30): Show c.5450_*5468delTTTTTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding					2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33872610	ACTCAGCA others(12): Show ACTCAGCAGCCAGCAGTTTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02258.hp1 HG02280.hp2 others(6): Show HG00544.hp2 HG02258.hp1 HG02280.hp2 HG02965.hp1 HG03130.hp2 HG03492.hp1 HG06807.hp1 NA18986.hp2 NA18992.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0002 a0001c0001t0001 a0006c0006t0002	a0001c0001t0001g0031 a0001c0001t0001g0131 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0202 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234	9	266	0.0338	-19	c.517 others(36): Show c.517-1599_517-1581delCAAACTGCTGGCTGCTGAG		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02145.hp1 others(5): Show HG01109.hp2 HG01891.hp1 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 a0001c0001t0001 a0001c0001t0005 a0004c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0134 a0001c0001t0001g0193 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0134 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0005g0122 a0001c0001t0005g0217 a0001c0001t0005g0218 a0004c0004t0001g0016	8	266	0.0301	-19	c.445 others(38): Show c.445+40094_445+40112delTTTTTTTTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVL9_chr7_32490489_32593726	32579453	ATATATTA others(12): Show ATATATTATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02970.hp1 HG01891.hp1 HG02615.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0072 a0001c0002t0073 a0001c0002t0026 a0001c0002t0072 a0001c0002t0073	a0001c0002t0026g0058 a0001c0002t0072g0059 a0001c0002t0073g0081 a0001c0002t0026g0058 a0001c0002t0072g0059 a0001c0002t0073g0081	3	330	0.0091	-19	c.168 others(36): Show c.1689-744_1689-726delTATTATATATAATATATTA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579557	TTATATTA others(12): Show TTATATTATATATTATATTA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp1 NA18980.hp1 HG04199.hp1 HG04228.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0027 a0001c0002t0069 a0001c0002t0015 a0001c0002t0027 a0001c0002t0069	a0001c0002t0015g0095 a0001c0002t0027g0104 a0001c0002t0069g0057 a0001c0002t0015g0095 a0001c0002t0027g0104 a0001c0002t0069g0057	3	330	0.0091	-19	c.168 others(36): Show c.1689-644_1689-626delTATATATTATATATTATAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678981	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	446	0.0022	-19	c.287 others(34): Show c.287+619_287+637delACACACACACACACACACA		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AXDND1_chr1_179360971_179559735	179412650	TAGAGGCA others(12): Show TAGAGGCATTTCCATTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG02572.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0258 a0002c0001t0001g0259 a0001c0006t0001g0258 a0002c0001t0001g0259	2	356	0.0056	-19	c.123 others(38): Show c.1230+1390_1230+1408delCATTTCCATTCAAGAGAGG		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(90): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03471.hp1 HG03491.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp2 NA19083.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0017	a0001c0002 a0001c0006 a0002c0001 others(4): Show a0001c0002 a0001c0006 a0002c0001 a0002c0020 a0005c0008 a0011c0016 a0017c0027	a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 a0002c0020t0001 a0005c0008t0001 a0011c0016t0001 a0017c0027t0001	a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0235 others(90): Show a0001c0002t0001g0206 a0001c0002t0001g0227 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0006t0001g0247 a0001c0006t0001g0258 a0002c0001t0001g0004 a0002c0001t0001g0105 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0264 a0002c0001t0001g0293 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0333 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0349 a0002c0020t0001g0320 a0002c0020t0001g0321 a0005c0008t0001g0335 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0355 a0005c0008t0001g0356 a0011c0016t0001g0167 a0017c0027t0001g0334	93	356	0.2612	-19	c.123 others(38): Show c.1231-8140_1231-8122delTTTTTTTTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488630	CTCTCCTT others(12): Show CTCTCCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18943.hp2 HG02071.hp1 NA18943.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0305 a0004c0005t0001g0308 a0004c0005t0001g0305 a0004c0005t0001g0308	2	356	0.0056	-19	c.209 others(38): Show c.2092-2904_2092-2886delCCTTTCTTTCTTTCTTTCT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(12): Show CCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18995.hp2 NA19063.hp2 HG02071.hp2 NA18995.hp2 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0239 a0002c0001t0001g0263 a0002c0001t0001g0208 a0002c0001t0001g0239 a0002c0001t0001g0263	3	356	0.0084	-19	c.209 others(38): Show c.2092-2903_2092-2885delCTTTCTTTCTTTCTTTCTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25						chr1	TogoVar
AZU1_chr19_822837_837018	830938	CAATGTGA others(12): Show CAATGTGAGTGCTCCCTGTG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0075 a0007c0014t0001g0075	1	391	0.0026	-19	c.592 others(29): Show c.592_594+16delAATGTGAGTGCTCCCTGTG	p.Asn others(6): Show p.Asn198del	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	602/907	592/756	198/251			chr19	TogoVar
AZU1_chr19_822837_837018	833301	AGAAGAAG others(12): Show AGAAGAAGAAGAAGAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	391	0.0026	-19	c.14 others(30): Show c.1425_*1443delGAAGAAGAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1284		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235474969	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	344	0.0029	-19	c.652 others(36): Show c.652-4028_652-4010delATATATATATATATATATA		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474971	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0335 a0001c0002t0067g0335	1	344	0.0029	-19	c.652 others(36): Show c.652-4030_652-4012delAAATATATATATATATATA		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474973	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01256.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0015 a0001c0001t0042 a0001c0002t0015	a0001c0001t0042g0205 a0001c0002t0015g0004 a0001c0002t0015g0276 others(1): Show a0001c0001t0042g0205 a0001c0002t0015g0004 a0001c0002t0015g0276 a0001c0002t0015g0277	5	344	0.0145	-19	c.652 others(36): Show c.652-4032_652-4014delAAAAATATATATATATATA		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167369060	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	118	0.0085	-19	c.-51 others(40): Show c.-511+75728_-511+75746delTGTGTGTGTGTGTGTGTGT		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GAT2_chr6_70851679_70962060	70895923	GGTCTGCT others(12): Show GGTCTGCTTGCAAGGCTTGC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	316	0.0032	-19	c.592 others(36): Show c.592-1670_592-1652delGCAAGCCTTGCAAGCAGAC		B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3						chr6	TogoVar
B3GNT3_chr19_17790138_17818576	17799766	ACCAGGCT others(12): Show ACCAGGCTGGTTAGGGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(215): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0004 a0004c0005 a0005c0012 a0007c0008 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0003t0008 a0001c0003t0035 a0001c0006t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0002t0032 a0003c0004t0011 a0004c0005t0020 a0004c0005t0028 a0005c0012t0005 a0007c0008t0005 a0009c0007t0003	a0001c0001t0001g0199 a0001c0001t0002g0005 a0001c0001t0002g0007 others(176): Show a0001c0001t0001g0199 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0162 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0247 a0001c0001t0003g0251 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0288 a0001c0001t0004g0206 a0001c0001t0004g0225 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0128 a0001c0001t0005g0228 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0245 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0031 a0001c0001t0006g0053 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0178 a0001c0001t0006g0184 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0009g0032 a0001c0001t0009g0033 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0009g0192 a0001c0001t0009g0193 a0001c0001t0009g0274 a0001c0001t0009g0277 a0001c0001t0009g0279 a0001c0001t0010g0044 a0001c0001t0010g0180 a0001c0001t0010g0220 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0232 a0001c0001t0010g0287 a0001c0001t0012g0029 a0001c0001t0012g0142 a0001c0001t0012g0181 a0001c0001t0012g0182 a0001c0001t0012g0186 a0001c0001t0012g0244 a0001c0001t0015g0046 a0001c0001t0015g0187 a0001c0001t0015g0273 a0001c0001t0015g0275 a0001c0001t0015g0276 a0001c0001t0016g0038 a0001c0001t0016g0046 a0001c0001t0016g0233 a0001c0001t0016g0246 a0001c0001t0017g0172 a0001c0001t0017g0173 a0001c0001t0017g0174 a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0021g0205 a0001c0001t0021g0211 a0001c0001t0023g0045 a0001c0001t0024g0196 a0001c0001t0025g0012 a0001c0001t0026g0164 a0001c0001t0027g0158 a0001c0001t0031g0278 a0001c0001t0036g0049 a0001c0001t0037g0044 a0001c0001t0038g0138 a0001c0003t0008g0037 a0001c0003t0035g0183 a0001c0006t0003g0194 a0002c0002t0001g0146 a0002c0002t0002g0227 a0002c0002t0014g0016 a0002c0002t0014g0234 a0002c0002t0014g0236 a0002c0002t0032g0235 a0003c0004t0011g0017 a0003c0004t0011g0043 a0003c0004t0011g0267 a0004c0005t0020g0263 a0004c0005t0020g0264 a0004c0005t0028g0197 a0005c0012t0005g0260 a0007c0008t0005g0255 a0009c0007t0003g0285	218	406	0.5370	-19	c.-51 others(36): Show c.-51+4567_-51+4585delTGGTTAGGGGTATCCAGGC		B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17799773	TGGTTAGG others(12): Show TGGTTAGGGGTATCCAGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01099.hp2 others(5): Show HG00099.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG02809.hp2 NA20129.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0013 a0001c0006t0034 a0004c0005t0029 others(1): Show a0001c0001t0013 a0001c0006t0034 a0004c0005t0029 a0004c0005t0030	a0001c0001t0013g0048 a0001c0001t0013g0153 a0001c0001t0013g0154 others(5): Show a0001c0001t0013g0048 a0001c0001t0013g0153 a0001c0001t0013g0154 a0001c0001t0013g0155 a0001c0001t0013g0156 a0001c0006t0034g0238 a0004c0005t0029g0051 a0004c0005t0030g0237	8	406	0.0197	-19	c.-51 others(36): Show c.-51+4587_-51+4605delGGTTAGGGGTATCCAGGCC		B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
B4GALNT4_chr11_364499_387117	371882	CTGGGCTG others(12): Show CTGGGCTGCCCCACCAGAGG	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	184	0.0054	-19	c.152 others(34): Show c.152-222_152-204delCTGCCCCACCAGAGGTGGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374684	CAGGGAGG others(12): Show CAGGGAGGGAGGGAGGGGGA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	184	0.0054	-19	c.784 others(34): Show c.784-764_784-746delAGGGGGAAGGGAGGGAGGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374823	AAGGGAGG others(12): Show AAGGGAGGGAGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 NA20905.hp1 HG00099.hp1 HG00639.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0078	3	184	0.0163	-19	c.784 others(34): Show c.784-554_784-536delGAGGAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33152351	TAACATAA others(12): Show TAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 NA18522.hp2 HG02896.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0338 a0001c0001t0012g0332 a0001c0001t0012g0333 a0001c0001t0007g0338 a0001c0001t0012g0332 a0001c0001t0012g0333	3	366	0.0082	-19	c.412 others(38): Show c.412+14388_412+14406delTGTTATGTTATGTTATGTT		B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5						chr9	TogoVar
BACE1_chr11_117280698_117321256	117290062	GTTGACCA others(12): Show GTTGACCAAAAGCCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG03471.hp2 HG02630.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196	3	400	0.0075	-19	c.126 others(36): Show c.1265-274_1265-256delGGGGGTGGCTTTTGGTCAA		BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	8/8						chr11	TogoVar
BAG4_chr8_38171855_38218301	38200974	AAGAGGGA others(12): Show AAGAGGGAGACAAAACTCAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	306	0.0033	-19	c.379 others(36): Show c.379-6535_379-6517delAGGGAGACAAAACTCATAG		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar

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