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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GABBR1_chr6_29597238_29638183	29633966	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01081.hp2 others(29): Show HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp1 NA18940.hp2 NA18947.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA19001.hp2 NA19009.hp1 NA19056.hp1 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0010 a0002c0004 others(1): Show a0001c0002 a0001c0010 a0002c0004 a0003c0005	a0001c0002t0003 a0001c0010t0003 a0002c0004t0003 others(1): Show a0001c0002t0003 a0001c0010t0003 a0002c0004t0003 a0003c0005t0005	a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0199 others(14): Show a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0199 a0001c0002t0003g0244 a0001c0010t0003g0200 a0002c0004t0003g0005 a0002c0004t0003g0025 a0002c0004t0003g0045 a0002c0004t0003g0202 a0002c0004t0003g0204 a0002c0004t0003g0205 a0002c0004t0003g0206 a0002c0004t0003g0207 a0003c0005t0005g0026 a0003c0005t0005g0240 a0003c0005t0005g0241 a0003c0005t0005g0242	32	407	0.0786	-30	c.-11 others(41): Show c.-1147_-1118delACACACACACACACACACACACACACACAC	GABBR1	ENSG00000204681.11	transcript	ENST00000377034.9	protein_coding		784		chr6	TogoVar
GABBR2_chr9_98283109_98713935	98436345	CACCATAT others(23): Show CACCATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0075 a0001c0001t0047g0075	1	164	0.0061	-30	c.123 others(51): Show c.1236+17606_1236+17635delTATATATATATATATATATATATA TATGGT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436378	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0046 a0001c0029t0046	a0001c0029t0046g0119 a0001c0029t0046g0119	1	164	0.0061	-30	c.123 others(51): Show c.1236+17573_1236+17602delCTATATATATATATATATATATAT ATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46267289	TTTCTAAT others(23): Show TTTCTAATTGTTTCAATTTTTAAATAATTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	258	0.0039	-30	c.857 others(47): Show c.857-5191_857-5162delTAAATTATTTAAAAATTGAAACAATTAG AA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46273472	TATATATA others(23): Show TATATATATATGCATATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp2 others(14): Show HG01243.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 others(11): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0055 a0001c0001t0061 a0001c0001t0077 a0001c0001t0085 a0001c0001t0092 a0001c0001t0099 a0001c0001t0100 a0001c0001t0104 a0001c0001t0114 a0001c0001t0144	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 others(13): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0027g0129 a0001c0001t0030g0001 a0001c0001t0055g0027 a0001c0001t0061g0034 a0001c0001t0077g0049 a0001c0001t0085g0062 a0001c0001t0092g0074 a0001c0001t0099g0091 a0001c0001t0100g0084 a0001c0001t0104g0100 a0001c0001t0114g0118 a0001c0001t0144g0161	17	258	0.0659	-30	c.857 others(49): Show c.857-11374_857-11345delGCATATATATATATATATGCATATAT ATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152212302	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18986.hp1 HG02523.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0028 a0001c0001t0004g0031	2	204	0.0098	-30	c.635 others(47): Show c.635-4188_635-4159delATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152294893	CGTTTGCT others(23): Show CGTTTGCTCCAACAGCTGCAGGTCTGTTGGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	204	0.0049	-30	c.263 others(49): Show c.263-10188_263-10159delTCCAACAGACCTGCAGCTGTTGGAGC AAAC	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	3/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47123675	TATATCAT others(23): Show TATATCATATATATGATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03491.hp1 HG02738.hp2 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0141 a0001c0003t0004g0117 a0001c0003t0001g0141 a0001c0003t0004g0117	2	158	0.0127	-30	c.241 others(49): Show c.241-37569_241-37540delCATATATATGATATATTATATATATA ATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246337	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02723.hp1 others(1): Show HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0005t0003	a0001c0001t0002g0097 a0001c0001t0003g0085 a0001c0003t0003g0098 others(1): Show a0001c0001t0002g0097 a0001c0001t0003g0085 a0001c0003t0003g0098 a0001c0005t0003g0012	4	158	0.0253	-30	c.462 others(49): Show c.462-73760_462-73731delTATATATATATATATATATATATATA TATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47340354	CTCCAAAA others(23): Show CTCCAAAATAATGGCCTTTCCTCCACCATGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	158	0.0063	-30	c.544 others(49): Show c.544+20152_544+20181delATAATGGCCTTTCCTCCACCATGTTC CAAA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26764169	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0059 a0001c0001t0012g0059	1	204	0.0049	-30	c.240 others(47): Show c.240+8203_240+8232delATATATATATATATATATATTTTTTTTT TT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764171	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	204	0.0049	-30	c.240 others(47): Show c.240+8201_240+8230delATATATATATATATATATATATTTTTTT TT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764173	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	204	0.0049	-30	c.240 others(47): Show c.240+8199_240+8228delATATATATATATATATATATATATTTTT TT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46076361	TCATATAT others(23): Show TCATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0032 a0001c0002t0004g0032	1	308	0.0033	-30	c.321 others(47): Show c.321+7595_321+7624delTATATATATATATATATATATATATATA TG	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	3/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27285254	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01099.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0028 a0001c0016t0001 a0001c0001t0028 a0001c0016t0001	a0001c0001t0028g0054 a0001c0016t0001g0074 a0001c0001t0028g0054 a0001c0016t0001g0074	2	92	0.0217	-30	c.271 others(49): Show c.271-41536_271-41507delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306649	CATATATA others(23): Show CATATATATGAACATGTTTATATATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp2 HG03516.hp2 others(1): Show HG02451.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0014 others(1): Show a0001c0004 a0001c0006 a0001c0014 a0001c0017	a0001c0004t0011 a0001c0006t0013 a0001c0014t0024 others(1): Show a0001c0004t0011 a0001c0006t0013 a0001c0014t0024 a0001c0017t0001	a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0014t0024g0057 others(1): Show a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0014t0024g0057 a0001c0017t0001g0039	4	92	0.0435	-30	c.271 others(49): Show c.271-20153_271-20124delATGAACATGTTTATATATAAACATAT ATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307003	CATGTATA others(23): Show CATGTATAAACATGTTTATATATAAACATGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0036	a0001c0007t0036g0016 a0001c0007t0036g0016	1	92	0.0109	-30	c.271 others(49): Show c.271-19803_271-19774delGTATAAACATGTTTATATATAAACAT GTAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308165	TATATGTT others(23): Show TATATGTTTATATATCCAAACATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00738.hp1 others(16): Show HG00323.hp1 HG00323.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp2 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0015	a0001c0001t0001 a0001c0001t0021 a0001c0001t0025 others(10): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0002t0001 a0001c0002t0027 a0001c0002t0033 a0001c0003t0037 a0001c0004t0005 a0001c0005t0002 a0001c0006t0003 a0001c0007t0004 a0002c0015t0020	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0084 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0021g0072 a0001c0001t0025g0092 a0001c0001t0031g0028 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0027g0080 a0001c0002t0033g0030 a0001c0003t0037g0018 a0001c0004t0005g0050 a0001c0005t0002g0055 a0001c0006t0003g0008 a0001c0007t0004g0056 a0002c0015t0020g0031	19	92	0.2065	-30	c.271 others(49): Show c.271-18641_271-18612delATGTTTATATATCCAAACATATATAA ACAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388267	GAGGGAGG others(23): Show GAGGGAGGGTAAGGAAGGAAGGAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0072 a0001c0001t0021g0072	1	92	0.0109	-30	c.574 others(49): Show c.574+59383_574+59412delGAGGGTAAGGAAGGAAGGAAGAAAAG AAGG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89280211	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(75): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp2 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp2 NA19086.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0005t0011 a0002c0003t0002 a0002c0003t0004 a0003c0006t0003	a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0037 others(73): Show a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0281 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0002g0279 a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0067 a0001c0001t0003g0077 a0001c0001t0003g0087 a0001c0001t0003g0109 a0001c0001t0003g0149 a0001c0001t0003g0175 a0001c0001t0003g0186 a0001c0001t0003g0192 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0256 a0001c0001t0003g0280 a0001c0001t0003g0317 a0001c0001t0003g0321 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0005g0300 a0001c0001t0006g0025 a0001c0001t0006g0101 a0001c0001t0007g0050 a0001c0001t0007g0052 a0001c0001t0007g0054 a0001c0001t0007g0096 a0001c0001t0007g0247 a0001c0001t0009g0297 a0001c0001t0010g0198 a0001c0001t0012g0095 a0001c0001t0021g0255 a0001c0001t0022g0022 a0001c0001t0029g0360 a0001c0005t0011g0309 a0002c0003t0002g0157 a0002c0003t0002g0182 a0002c0003t0002g0240 a0002c0003t0004g0015 a0002c0003t0004g0020 a0002c0003t0004g0243 a0002c0003t0004g0314 a0002c0003t0004g0328 a0002c0003t0004g0331 a0003c0006t0003g0001	78	366	0.2131	-30	c.221 others(47): Show c.221-8519_221-8490delATATATATATATATATATATATATATAT AT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GADL1_chr3_30721197_30899661	30800824	CACACACA others(23): Show CACACACACACACACACACACACACACAGAA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	282	0.0036	-30	c.125 others(45): Show c.1250+35_1250+64delTTCTGTGTGTGTGTGTGTGTGTGTGTGTGT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	12/14			chr3	TogoVar
GAK_chr4_844277_937316	914013	ACAGCCCC others(23): Show ACAGCCCCAGCGTGCACGGCCCCACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0013 a0013	a0013c0045 a0013c0045	a0013c0045t0001 a0013c0045t0001	a0013c0045t0001g0093 a0013c0045t0001g0093	1	390	0.0026	-30	c.146 others(45): Show c.146-375_146-346delGTGTGTGTGGGGCCGTGCACGCTGGGGCTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807495	TCCCCCTC others(23): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	314	0.0032	-30	c.33 others(41): Show c.3330_*3359delCCCCCTCAACCCAGGGACCTCCGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3209		chr2	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02572.hp2 HG00609.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0338 a0001c0001t0009g0056 a0001c0001t0001g0338 a0001c0001t0009g0056	2	348	0.0058	-30	c.505 others(47): Show c.505-4830_505-4801delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	284	0.0035	-30	c.123 others(47): Show c.1233+327_1233+356delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154110308	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0156 a0001c0001t0044g0156	1	214	0.0047	-30	c.143 others(49): Show c.143-30027_143-29998delTATATATATATATATATATATATATA TAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110312	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02965.hp2 HG01952.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0198 a0001c0001t0048g0160 a0001c0001t0007g0198 a0001c0001t0048g0160	2	214	0.0094	-30	c.143 others(49): Show c.143-30023_143-29994delTATATATATATATATATATATATAGA GAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110316	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0095 a0001c0001t0024g0095	1	214	0.0047	-30	c.143 others(49): Show c.143-30019_143-29990delTATATATATATATATATATAGAGAGA GAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110318	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03098.hp1 HG01981.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0196 a0001c0001t0011g0097 a0001c0001t0007g0196 a0001c0001t0011g0097	2	214	0.0094	-30	c.143 others(49): Show c.143-30017_143-29988delTATATATATATATATATAGAGAGAGA GAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110326	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0098 a0001c0001t0035g0098	1	214	0.0047	-30	c.143 others(49): Show c.143-30009_143-29980delTATATATATAGAGAGAGAGAGAGAGA GAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154133532	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02280.hp1 others(6): Show HG00735.hp1 HG01099.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG03195.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0027 others(3): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0027 a0001c0001t0045 a0001c0001t0066 a0001c0001t0067	a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0029 others(6): Show a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0023g0033 a0001c0001t0027g0009 a0001c0001t0027g0014 a0001c0001t0045g0211 a0001c0001t0066g0006 a0001c0001t0067g0005	9	214	0.0421	-30	c.143 others(47): Show c.143-6803_143-6774delTTATATATATATATATATATATATATAT AT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154133534	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18747.hp2 NA18939.hp2 others(4): Show HG00642.hp1 NA18747.hp2 NA18939.hp2 NA18959.hp1 NA18961.hp1 NA18990.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0071	a0001c0001t0012g0182 a0001c0001t0013g0174 a0001c0001t0016g0173 others(4): Show a0001c0001t0012g0182 a0001c0001t0013g0174 a0001c0001t0016g0173 a0001c0001t0040g0082 a0001c0001t0046g0186 a0001c0001t0047g0114 a0001c0001t0071g0175	7	214	0.0327	-30	c.143 others(47): Show c.143-6781_143-6752delATATATATATATATATATATATATATAT AT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30983783	ACACACAC others(23): Show ACACACACACACACACACACACACACGTATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02886.hp1 others(2): Show HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0111 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0174 a0001c0001t0002g0208	5	226	0.0221	-30	c.299 others(47): Show c.299+9025_299+9054delCATACGTGTGTGTGTGTGTGTGTGTGTG TG	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30995130	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(74): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp2 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA19011.hp1 NA19043.hp1 NA19062.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0002c0003 a0002c0004 a0002c0010 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0005t0001 a0001c0015t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0010t0001 a0005c0012t0007	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(74): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0004g0006 a0001c0002t0001g0020 a0001c0002t0001g0045 a0001c0002t0001g0063 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0147 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0002g0193 a0001c0002t0002g0209 a0001c0002t0003g0181 a0001c0002t0008g0142 a0001c0005t0001g0104 a0001c0015t0001g0046 a0002c0003t0001g0024 a0002c0003t0001g0037 a0002c0003t0001g0057 a0002c0003t0001g0121 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0150 a0002c0003t0001g0156 a0002c0003t0002g0215 a0002c0004t0001g0164 a0002c0004t0001g0172 a0002c0004t0002g0220 a0002c0010t0001g0070 a0002c0010t0001g0071 a0005c0012t0007g0186	77	226	0.3407	-30	c.130 others(47): Show c.130-2153_130-2124delCACACACACACACACACACACACACACA CA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT16_chr14_69255158_69359466	69296767	TAGACAGA others(23): Show TAGACAGATAGATGATAGAGATAGACAGACA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	306	0.0033	-30	c.178 others(49): Show c.178-23943_178-23914delAGACAGATAGATGATAGAGATAGACA GACA	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14			chr14	TogoVar
GALNT16_chr14_69255158_69359466	69322972	GTGTGTGT others(23): Show GTGTGTGTGTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01433.hp1 others(13): Show HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01993.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02738.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03927.hp1 NA18963.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0003c0004 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0026 a0001c0015t0003 a0002c0002t0002 a0003c0004t0001 a0009c0018t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0087 a0001c0001t0001g0146 a0001c0001t0002g0091 a0001c0001t0003g0104 a0001c0001t0014g0287 a0001c0001t0026g0300 a0001c0015t0003g0289 a0002c0002t0002g0038 a0002c0002t0002g0200 a0003c0004t0001g0040 a0003c0004t0001g0139 a0003c0004t0001g0218 a0009c0018t0002g0295	16	306	0.0523	-30	c.336 others(47): Show c.336-1717_336-1688delTGTGTGTGCGCGCGCACGCGCGCACGCA TG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT9_chr12_132191372_132334589	132267197	AGGGAAGG others(23): Show AGGGAAGGAGGCAGGCAGGGGAACCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG02055.hp1 others(13): Show HG01109.hp1 HG01175.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0001c0017 a0001c0019 a0001c0025 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0014t0003 a0001c0017t0001 a0001c0019t0003 a0001c0025t0012 a0001c0029t0003	a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0069 others(13): Show a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0151 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0014t0003g0146 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0019t0003g0145 a0001c0025t0012g0048 a0001c0029t0003g0107	16	183	0.0874	-30	c.420 others(47): Show c.420-4602_420-4573delCGCCCTGGTTCCCCTGCCTGCCTCCTTC CC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132291324	ATCCACAG others(23): Show ATCCACAGCACCCACAACCACAGCACCCACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp2 HG03453.hp2 others(2): Show HG02055.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0028 a0001c0001 a0001c0017 a0001c0028	a0001c0001t0001 a0001c0001t0011 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0017t0001 a0001c0028t0001	a0001c0001t0001g0051 a0001c0001t0001g0143 a0001c0001t0011g0050 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0143 a0001c0001t0011g0050 a0001c0017t0001g0049 a0001c0028t0001g0144	5	183	0.0273	-30	c.239 others(47): Show c.239-4924_239-4895delCGTGGGTGCTGTGGTTGTGGGTGCTGTG GA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132291481	GCACCCAC others(23): Show GCACCCACAACCACAGCGCCCACGTCCACAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp1 HG02976.hp1 HG01167.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0003 a0001c0001t0001 a0001c0014t0003	a0001c0001t0001g0072 a0001c0014t0003g0074 a0001c0014t0003g0153 a0001c0001t0001g0072 a0001c0014t0003g0074 a0001c0014t0003g0153	3	183	0.0164	-30	c.239 others(47): Show c.239-5081_239-5052delGTGTGGACGTGGGCGCTGTGGTTGTGGG TG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172443121	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	40	0.0250	-30	c.553 others(49): Show c.553+94445_553+94474delATATATATATATATATATATATATAT ATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172630847	TATGTTAT others(23): Show TATGTTATATACATATATATATACTGCATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	40	0.0250	-30	c.554 others(51): Show c.554-178512_554-178483delTGTTATATACATATATATATACTG CATAGA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAP43_chr3_115618510_115726483	115716711	CAGACAAA others(23): Show CAGACAAATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0269 a0001c0001t0016g0269	1	352	0.0028	-30	c.629 others(47): Show c.629-4081_629-4052delGACAAATATATATATATATATATATATA TA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	340	0.0029	-30	c.-14 others(49): Show c.-149-1583_-149-1554delTATATATATATATATATATATATATA TATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300036	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0037	a0001c0016t0037g0152 a0001c0016t0037g0152	1	340	0.0029	-30	c.185 others(45): Show c.185+932_185+961delAATATATATATATATATATATATATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARIN1A_chr7_128667292_128692877	128679006	TTATGTAA others(23): Show TTATGTAACGATTGTTACATATATACGTATG	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0155 a0001c0001t0091g0155	1	428	0.0023	-30	c.589 others(46): Show c.589-1022_589-993delTGTAACGATTGTTACATATATACGTATGT A	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0048 a0001c0002t0010g0048	1	326	0.0031	-30	c.-79 others(49): Show c.-795-8784_-795-8755delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GART_chr21_33498933_33547117	33513083	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTCTCTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	384	0.0026	-30	c.210 others(49): Show c.2108-1655_2108-1626delCACACACAGAGACACACACACACACA CACA	GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding	16/21			chr21	TogoVar
GATA6_chr18_22164589_22207528	22204115	TCCCTCTC others(23): Show TCCCTCTCTCTCTCCCTCTCTCTCTCTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	286	0.0035	-30	c.32 others(41): Show c.3293_*3322delCCCTCTCTCTCTCCCTCTCTCTCTCTCTCC	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1588		chr18	TogoVar
GBE1_chr3_81484703_81766645	81750615	ATGTATAT others(23): Show ATGTATATATATATACGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0303 a0001c0004t0007g0303	1	304	0.0033	-30	c.143 others(49): Show c.143+10730_143+10759delCATATATATATATACGTATATATATA TACA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBX2_chr2_236160236_236173386	236163268	GGGAGGGA others(23): Show GGGAGGGAGGGGGTCAGCGCCCCGAGGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG02559.hp2 others(3): Show HG01099.hp1 HG02486.hp2 HG02559.hp2 HG02965.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0011g0011 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0011g0011	6	342	0.0175	-30	c.26 others(41): Show c.2616_*2645delTGCTCCTCGGGGCGCTGACCCCCTCCCTCC	GBX2	ENSG00000168505.7	transcript	ENST00000306318.5	protein_coding		1967		chr2	TogoVar

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