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
GCC2_chr2_108444206_108514415	108448093	TGCGCGCA others(23): Show TGCGCGCACACGTGCACACACACACGTGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG02976.hp2 others(2): Show HG01884.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0002c0003t0003	a0001c0001t0003g0117 a0001c0001t0005g0094 a0001c0001t0025g0095 others(2): Show a0001c0001t0003g0117 a0001c0001t0005g0094 a0001c0001t0025g0095 a0001c0001t0025g0100 a0002c0003t0003g0109	5	276	0.0181	-30	c.-11 others(41): Show c.-1181_-1152delGCGCGCACACGTGCACACACACACGTGCAC		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding					1112		chr2	TogoVar
GCH1_chr14_54837017_54907826	54880692	CATATATA others(23): Show CATATATATATACTCCATATATATATACTCA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	346	0.0029	-30	c.344 others(49): Show c.344-15286_344-15257delTGAGTATATATATATGGAGTATATAT ATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GCNA_chrX_71573437_71618583	71603724	CGACGACA others(23): Show CGACGACAACAGTGATGATTCGGAAGCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG00735.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 others(1): Show a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 a0003c0003t0001g0193	4	265	0.0151	-30	c.477 others(37): Show c.477_506delTGACGACAACAGTGATGATTCGGAAGCTCC	p.Asp others(13): Show p.Asp160_Pro169del	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	8/13	565/2765	477/2076	159/691		INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNT4_chr5_75020346_75057558	75027302	ATAATTAT others(23): Show ATAATTATATGTATATATAATATATATTCAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(76): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01175.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18947.hp2 NA18949.hp1 NA18953.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 others(12): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0002c0002t0019 a0002c0002t0024 a0002c0002t0039 a0002c0002t0040 a0002c0002t0043 a0002c0002t0052 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0071	a0002c0002t0002g0001 a0002c0002t0002g0014 a0002c0002t0002g0016 others(61): Show a0002c0002t0002g0001 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0097 a0002c0002t0002g0106 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0146 a0002c0002t0002g0173 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0285 a0002c0002t0002g0289 a0002c0002t0008g0110 a0002c0002t0008g0113 a0002c0002t0008g0119 a0002c0002t0008g0121 a0002c0002t0008g0123 a0002c0002t0008g0127 a0002c0002t0008g0129 a0002c0002t0008g0136 a0002c0002t0008g0273 a0002c0002t0008g0283 a0002c0002t0014g0108 a0002c0002t0014g0111 a0002c0002t0014g0118 a0002c0002t0014g0131 a0002c0002t0014g0134 a0002c0002t0014g0135 a0002c0002t0014g0270 a0002c0002t0014g0271 a0002c0002t0019g0027 a0002c0002t0019g0217 a0002c0002t0019g0286 a0002c0002t0019g0287 a0002c0002t0024g0103 a0002c0002t0024g0104 a0002c0002t0024g0105 a0002c0002t0039g0040 a0002c0002t0040g0013 a0002c0002t0043g0047 a0002c0002t0052g0219 a0002c0002t0053g0218 a0002c0002t0063g0115 a0002c0002t0064g0124 a0002c0002t0065g0284 a0002c0002t0066g0309 a0002c0002t0071g0083	79	382	0.2068	-30	c.13 others(41): Show c.1344_*1373delATGAATATATATTATATATACATATAATTA		GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	4/4				1344		chr5	TogoVar
GCNT4_chr5_75020346_75057558	75032872	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(11): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01516.hp2 HG02280.hp2 HG02622.hp1 HG02738.hp1 HG03041.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0034 a0002c0002t0035 others(1): Show a0002c0002t0013 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036	a0002c0002t0013g0003 a0002c0002t0013g0010 a0002c0002t0013g0061 others(7): Show a0002c0002t0013g0003 a0002c0002t0013g0010 a0002c0002t0013g0061 a0002c0002t0013g0296 a0002c0002t0034g0181 a0002c0002t0034g0290 a0002c0002t0035g0208 a0002c0002t0035g0209 a0002c0002t0036g0143 a0002c0002t0036g0304	14	382	0.0367	-30	c.-1- others(45): Show c.-1-2864_-1-2835delACACACACACACACACACACACACACACAC		GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3						chr5	TogoVar
GEN1_chr2_17749138_17793946	17778248	GTATACAC others(23): Show GTATACACACATATGTGTGTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0158 a0001c0001t0031g0158	1	318	0.0031	-30	c.126 others(47): Show c.1264+196_1264+225delTATGTGTGTACATATATGTATATACACA CA		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778336	GTATACAC others(23): Show GTATACACACACATGTGTGTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01433.hp2 others(4): Show HG00735.hp1 HG01109.hp1 HG01433.hp2 HG01516.hp1 HG01981.hp1 HG02004.hp1 HG02300.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0021 a0002c0002 a0013c0021	a0002c0002t0002 a0013c0021t0002 a0002c0002t0002 a0013c0021t0002	a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0097 others(1): Show a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0097 a0013c0021t0002g0081	7	318	0.0220	-30	c.126 others(47): Show c.1264+287_1264+316delGTGTGTACATATATGTATATACACACAC AT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GET4_chr7_871554_901436	876278	CCTGGGCC others(23): Show CCTGGGCCACGTGTTGCCTGCGGACCCGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-30	c.-36 others(39): Show c.-367_-338delCTGGGCCACGTGTTGCCTGCGGACCCGCCT		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					275		chr7	TogoVar
GET4_chr7_871554_901436	876314	CCACGTGT others(23): Show CCACGTGTTGCCTGCGGACCCGCCTCTGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03579.hp2 NA18951.hp1 HG02896.hp1 HG03579.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0002 a0001c0001t0041 a0001c0002t0002	a0001c0001t0041g0001 a0001c0002t0002g0092 a0001c0002t0002g0106 a0001c0001t0041g0001 a0001c0002t0002g0092 a0001c0002t0002g0106	3	384	0.0078	-30	c.-33 others(39): Show c.-331_-302delCACGTGTTGCCTGCGGACCCGCCTCTGGGT		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					239		chr7	TogoVar
GET4_chr7_871554_901436	876361	ACCCGCCT others(23): Show ACCCGCCTCTGGGTCACGTGTTGCCTGCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA19067.hp2 HG00735.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0163 a0001c0001t0013g0194 a0001c0001t0001g0163 a0001c0001t0013g0194	2	384	0.0052	-30	c.-28 others(39): Show c.-284_-255delCCCGCCTCTGGGTCACGTGTTGCCTGCGGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					192		chr7	TogoVar
GET4_chr7_871554_901436	876391	GCCCGCCC others(23): Show GCCCGCCCCTGGGTCACGTGTTGCCTGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02922.hp2 others(1): Show HG02258.hp2 HG02572.hp1 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0002 a0001c0001t0001 a0001c0021t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0021t0002g0097	4	384	0.0104	-30	c.-25 others(39): Show c.-254_-225delCCCGCCCCTGGGTCACGTGTTGCCTGCGGA		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					162		chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100694309	TCCACCGC others(23): Show TCCACCGCCGCCGCCGCCGCCGCCGCCGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0034 a0006c0012t0034	a0006c0012t0034g0206 a0006c0012t0034g0206	1	398	0.0025	-30	c.-13 others(41): Show c.-1328_-1299delCGGCGGCGGCGGCGGCGGCGGCGGCGGTGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					60		chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(23): Show ACCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01081.hp2 others(36): Show HG00140.hp1 HG00642.hp2 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01361.hp1 HG02135.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18983.hp1 NA18987.hp2 NA18994.hp1 NA18997.hp2 NA19005.hp1 NA19012.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0009 a0012	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0003c0006 a0006c0012 a0007c0017 a0009c0021 a0012c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0029 a0001c0001t0053 a0001c0001t0072 a0001c0003t0006 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0002c0002t0017 a0002c0002t0043 a0002c0015t0002 a0003c0006t0001 a0006c0012t0024 a0007c0017t0001 a0009c0021t0057 a0012c0016t0042	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0137 a0001c0001t0001g0160 a0001c0001t0003g0010 a0001c0001t0004g0013 a0001c0001t0004g0082 a0001c0001t0011g0152 a0001c0001t0012g0153 a0001c0001t0014g0015 a0001c0001t0029g0106 a0001c0001t0029g0113 a0001c0001t0053g0116 a0001c0001t0072g0200 a0001c0003t0006g0011 a0002c0002t0002g0001 a0002c0002t0002g0018 a0002c0002t0005g0023 a0002c0002t0016g0036 a0002c0002t0017g0039 a0002c0002t0043g0099 a0002c0015t0002g0141 a0003c0006t0001g0049 a0003c0006t0001g0148 a0006c0012t0024g0205 a0007c0017t0001g0151 a0009c0021t0057g0077 a0012c0016t0042g0096	39	398	0.0980	-30	c.-13 others(41): Show c.-1331_-1302delCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232757809	AATGATTG others(23): Show AATGATTGAATTTCTCCTTGCTTTTTGGTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01175.hp1 others(2): Show HG00642.hp2 HG00738.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0034 a0002c0001t0004 a0002c0001t0034	a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0004g0040 others(2): Show a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0004g0040 a0002c0001t0004g0041 a0002c0001t0034g0042	5	376	0.0133	-30	c.379 others(47): Show c.379+1506_379+1535delATGATTGAATTTCTCCTTGCTTTTTGGT TT		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	6/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836260	CTACATAT others(23): Show CTACATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0019 a0010c0022t0019	a0010c0022t0019g0180 a0010c0022t0019g0180	1	376	0.0027	-30	c.276 others(49): Show c.2766+3170_2766+3199delCATATATATATATATATATATATATA TATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836301	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG03130.hp2 others(4): Show HG00280.hp2 HG00741.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp1 NA18954.hp2 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0002 a0002c0001t0004g0087 a0002c0001t0004g0090 others(4): Show a0002c0001t0004g0002 a0002c0001t0004g0087 a0002c0001t0004g0090 a0002c0001t0004g0093 a0002c0001t0004g0097 a0002c0001t0004g0108 a0002c0001t0004g0126	7	376	0.0186	-30	c.276 others(49): Show c.2766+3218_2766+3247delTATATATATATATATATATACATATA TATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836320	ATATATAT others(23): Show ATATATATATACATATATATACTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19068.hp2 HG00408.hp2 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0195 a0001c0005t0001g0226 a0001c0005t0001g0195 a0001c0005t0001g0226	2	376	0.0053	-30	c.276 others(49): Show c.2766+3238_2766+3267delCATATATATACTTATATATTTATATA TATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GINM1_chr6_149561375_149596748	149562262	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02965.hp2 NA18906.hp1 HG02257.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017	a0001c0001t0003g0299 a0001c0001t0006g0045 a0001c0001t0017g0044 a0001c0001t0003g0299 a0001c0001t0006g0045 a0001c0001t0017g0044	3	380	0.0079	-30	c.-41 others(41): Show c.-4152_-4123delTATATATATATATATATATATATATATATA		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4112		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562288	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0049 a0001c0002t0012g0049	1	380	0.0026	-30	c.-41 others(41): Show c.-4126_-4097delTATATATATATATATATATATATATATATT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4086		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562290	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA21309.hp1 HG02970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0019 a0001c0001t0012 a0001c0002t0019	a0001c0001t0012g0048 a0001c0002t0019g0063 a0001c0001t0012g0048 a0001c0002t0019g0063	2	380	0.0053	-30	c.-41 others(41): Show c.-4124_-4095delTATATATATATATATATATATATATATTTT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4084		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562292	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0062 a0001c0002t0025g0062	1	380	0.0026	-30	c.-41 others(41): Show c.-4122_-4093delTATATATATATATATATATATATATTTTTT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4082		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570134	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03453.hp2 others(1): Show HG03041.hp1 HG03209.hp1 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0003g0083 a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0003g0083	4	380	0.0105	-30	c.121 others(47): Show c.121-2149_121-2120delTTATATATATATATATATATATATATAT AT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
GIPC1_chr19_14472762_14501127	14483748	CAATAATA others(23): Show CAATAATAATAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19000.hp1 NA19072.hp2 others(1): Show HG02132.hp2 NA19000.hp1 NA19072.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0019 a0001c0001t0003 a0001c0002t0019	a0001c0001t0003g0306 a0001c0002t0019g0268 a0001c0002t0019g0301 others(1): Show a0001c0001t0003g0306 a0001c0002t0019g0268 a0001c0002t0019g0301 a0001c0002t0019g0311	4	444	0.0090	-30	c.-30 others(45): Show c.-30-772_-30-743delATTATTATTATTATTATTATTATTATTATT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GJA10_chr6_89889469_89901120	89898136	TTTCCTTT others(23): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01515.hp2 HG01517.hp1 others(3): Show HG01106.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02602.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	386	0.0155	-30	c.20 others(41): Show c.2037_*2066delTTCCTTTCCTTTCCTTTCCTTTCCTTTCCC		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					2017		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898141	TTTCCTTT others(23): Show TTTCCTTTCCTTTCCTTTCCTTTCCCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-30	c.20 others(41): Show c.2042_*2071delTTCCTTTCCTTTCCTTTCCTTTCCCTTCCC		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					2022		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898151	TTTCCTTT others(23): Show TTTCCTTTCCTTTCCCTTCCCTTCCCTTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG04184.hp1 others(4): Show HG02145.hp2 HG02559.hp1 HG04184.hp1 NA18522.hp2 NA18955.hp1 NA18959.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	7	386	0.0181	-30	c.20 others(41): Show c.2052_*2081delTTCCTTTCCTTTCCCTTCCCTTCCCTTCCC		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					2032		chr6	TogoVar
GK_chrX_30648423_30736462	30662839	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02451.hp1 HG02965.hp1 others(2): Show HG00597.hp1 HG02451.hp1 HG02965.hp1 NA19083.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0004g0171 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0011g0181	5	286	0.0175	-30	c.79- others(45): Show c.79-2646_79-2617delCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1_chr3_32991617_33102146	33059244	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	394	0.0025	-30	c.553 others(46): Show c.553-1005_553-976delGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	5/15						chr3	TogoVar
GLI1_chr12_57454785_57477268	57462849	CACTGCAG others(23): Show CACTGCAGAGATTGTACACGGGCTGTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0065 a0014c0022t0001g0065	1	414	0.0024	-30	c.-27 others(45): Show c.-27-815_-27-786delACTGCAGAGATTGTACACGGGCTGTCCCTG		GLI1	ENSG00000111087.10	transcript	ENST00000228682.7	protein_coding	1/11						chr12	TogoVar
GLI2_chr2_120730868_120997653	120886186	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGCGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(32): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02145.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA19003.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0015	a0001c0002 a0001c0016 a0001c0021 others(7): Show a0001c0002 a0001c0016 a0001c0021 a0002c0001 a0002c0004 a0002c0011 a0002c0023 a0003c0012 a0011c0019 a0015c0022	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(17): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0019 a0001c0002t0021 a0001c0002t0049 a0001c0016t0048 a0001c0021t0004 a0002c0001t0002 a0002c0001t0004 a0002c0001t0015 a0002c0001t0016 a0002c0004t0004 a0002c0011t0046 a0002c0023t0004 a0003c0012t0041 a0011c0019t0001 a0015c0022t0027	a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0042 others(32): Show a0001c0002t0001g0027 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0066 a0001c0002t0001g0082 a0001c0002t0001g0112 a0001c0002t0005g0007 a0001c0002t0005g0013 a0001c0002t0005g0050 a0001c0002t0006g0009 a0001c0002t0010g0084 a0001c0002t0011g0147 a0001c0002t0019g0129 a0001c0002t0019g0134 a0001c0002t0021g0089 a0001c0002t0049g0144 a0001c0016t0048g0143 a0001c0021t0004g0085 a0002c0001t0002g0046 a0002c0001t0002g0060 a0002c0001t0002g0063 a0002c0001t0002g0083 a0002c0001t0004g0010 a0002c0001t0004g0014 a0002c0001t0004g0075 a0002c0001t0004g0123 a0002c0001t0015g0062 a0002c0001t0016g0130 a0002c0004t0004g0152 a0002c0011t0046g0141 a0002c0023t0004g0137 a0003c0012t0041g0030 a0011c0019t0001g0061 a0015c0022t0027g0111	35	160	0.2188	-30	c.149 others(49): Show c.149-41173_149-41144delGTGTGTGTGTGTGTGTGTGTGTGCGT GTAT		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120886232	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02976.hp1 HG02630.hp1 HG02896.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0003c0006 a0001c0002 a0003c0005 a0003c0006	a0001c0002t0007 a0003c0005t0006 a0003c0006t0007 a0001c0002t0007 a0003c0005t0006 a0003c0006t0007	a0001c0002t0007g0055 a0003c0005t0006g0056 a0003c0006t0007g0002 a0001c0002t0007g0055 a0003c0005t0006g0056 a0003c0006t0007g0002	3	160	0.0188	-30	c.149 others(49): Show c.149-41109_149-41080delGTTTTGTTTTGTTTTGTTTTGTTTTG TTTT		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI4_chr8_143262445_143281931	143273618	CTCACAGC others(23): Show CTCACAGCCAGGCACTGTTATGAACGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(179): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0002c0009 a0002c0011 a0002c0013 a0006c0014	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0006 a0002c0001t0007 a0002c0006t0001 a0002c0009t0001 a0002c0011t0001 a0002c0013t0001 a0006c0014t0001	a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0003t0001g0105 others(55): Show a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0003t0001g0105 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0014 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0081 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0003g0002 a0002c0001t0003g0017 a0002c0001t0003g0090 a0002c0001t0003g0091 a0002c0001t0003g0094 a0002c0001t0006g0011 a0002c0001t0007g0083 a0002c0006t0001g0010 a0002c0006t0001g0111 a0002c0009t0001g0001 a0002c0009t0001g0002 a0002c0011t0001g0082 a0002c0013t0001g0034 a0006c0014t0001g0031	182	394	0.4619	-30	c.125 others(47): Show c.125-1068_125-1039delTATGAACGGGGTGTCACAGCCAGGCACT GT		GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIS1_chr1_53501239_53744164	53530716	TTCACAGC others(23): Show TTCACAGCCACCCACCAACCTCCCTCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0014 a0007c0008t0003g0014	1	236	0.0042	-30	c.132 others(47): Show c.1321-794_1321-765delGGGCTGAGGGAGGTTGGTGGGTGGCTGT GA		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10						chr1	TogoVar
GLIS1_chr1_53501239_53744164	53709377	CATATATA others(23): Show CATATATACATATATATACATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	236	0.0042	-30	c.259 others(49): Show c.259+28399_259+28428delATATATGTATATGTATATATATGTAT ATAT		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	3859350	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00738.hp2 others(18): Show HG00423.hp1 HG00423.hp2 HG00738.hp2 HG01256.hp1 HG01346.hp2 HG01928.hp2 HG01981.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02300.hp1 HG03139.hp2 HG04228.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp1 NA18989.hp1 NA19004.hp1 NA19011.hp2 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0012 a0013 a0016	a0001c0001 a0001c0010 a0002c0002 others(4): Show a0001c0001 a0001c0010 a0002c0002 a0003c0004 a0012c0029 a0013c0013 a0016c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 a0001c0010t0067 a0002c0002t0003 a0002c0002t0017 a0002c0002t0026 a0002c0002t0087 a0003c0004t0006 a0012c0029t0001 a0013c0013t0001 a0016c0023t0003	a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0001g0150 others(18): Show a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0123 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0181 a0001c0001t0005g0132 a0001c0001t0008g0104 a0001c0001t0026g0172 a0001c0010t0067g0108 a0002c0002t0003g0135 a0002c0002t0017g0060 a0002c0002t0026g0113 a0002c0002t0087g0187 a0003c0004t0006g0058 a0012c0029t0001g0175 a0013c0013t0001g0129 a0016c0023t0003g0142	21	188	0.1117	-30	c.229 others(49): Show c.2298-3196_2298-3167delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10						chr9	TogoVar
GLMP_chr1_156287688_156300679	156292376	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp2 others(14): Show HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02148.hp2 HG02273.hp2 HG03654.hp2 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0002 a0004c0004t0002g0004 a0002c0002t0002g0002 a0004c0004t0002g0004	17	396	0.0429	-30	c.63 others(39): Show c.638_*667delACACACACACACACACACACACACACACAC		GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding					311		chr1	TogoVar
GLRA1_chr5_151817513_151929851	151849376	GTTTCCTT others(23): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	284	0.0035	-30	c.912 others(47): Show c.912+1984_912+2013delGGAAAGGAAAGGAAAGGAAAGGAAAGGA AA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA2_chrX_14524536_14736812	14691271	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0063 a0001c0002t0036g0063	1	232	0.0043	-30	c.108 others(47): Show c.1080+437_1080+466delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14730891	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02257.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02257.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0032 a0001c0001t0009g0064 a0001c0001t0009g0223 others(2): Show a0001c0001t0009g0032 a0001c0001t0009g0064 a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0225	5	232	0.0216	-30	c.43 others(39): Show c.436_*465delCACACACACACACACACACACACACACACA		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	9/9				436	INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA3_chr4_174631920_174834247	174801999	GATAAATA others(23): Show GATAAATATTTTTGAAATAAATATTTCAAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03130.hp2 HG03453.hp1 others(1): Show HG00639.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0008 a0001c0001t0023 a0001c0003t0086 others(1): Show a0001c0001t0008 a0001c0001t0023 a0001c0003t0086 a0001c0011t0074	a0001c0001t0008g0012 a0001c0001t0023g0007 a0001c0003t0086g0011 others(1): Show a0001c0001t0008g0012 a0001c0001t0023g0007 a0001c0003t0086g0011 a0001c0011t0074g0010	4	296	0.0135	-30	c.72- others(47): Show c.72-13086_72-13057delTTTTGAAATATTTATTTCAAAAATATTT AT		GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	1/9						chr4	TogoVar
GLT1D1_chr12_128848478_128989968	128874078	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	320	0.0031	-30	c.69- others(45): Show c.69-1832_69-1803delTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874082	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	320	0.0031	-30	c.69- others(45): Show c.69-1828_69-1799delTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874110	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0213 a0002c0007t0005g0213	1	320	0.0031	-30	c.69- others(45): Show c.69-1800_69-1771delCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874114	CTCTCTCT others(23): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02738.hp1 others(5): Show HG00438.hp2 HG02040.hp1 HG02738.hp1 HG03239.hp1 NA18949.hp2 NA18970.hp2 NA19056.hp1 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0015 a0001c0001 a0001c0004 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0004c0015t0001	a0001c0001t0001g0181 a0001c0001t0001g0255 a0001c0001t0001g0295 others(5): Show a0001c0001t0001g0181 a0001c0001t0001g0255 a0001c0001t0001g0295 a0001c0001t0002g0185 a0001c0001t0003g0293 a0001c0001t0006g0182 a0001c0004t0001g0184 a0004c0015t0001g0166	8	320	0.0250	-30	c.69- others(45): Show c.69-1796_69-1767delCTCTCTCTCTTTCTTTCTTTCTTTCTTTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874118	CTCTCTCT others(23): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0042 a0001c0001t0004g0180 a0001c0001t0001g0042 a0001c0001t0004g0180	2	320	0.0063	-30	c.69- others(45): Show c.69-1792_69-1763delCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879372	TTTTCTTT others(23): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0320 a0002c0003t0008g0320	1	320	0.0031	-30	c.217 others(47): Show c.217+3318_217+3347delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103990078	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01168.hp1 others(15): Show HG00323.hp1 HG01081.hp2 HG01168.hp1 HG01516.hp1 HG01884.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp2 HG03225.hp1 HG03486.hp2 HG03834.hp1 NA18975.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(15): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0160 a0001c0001t0003g0176 a0001c0001t0003g0315 a0001c0001t0003g0332 a0001c0001t0005g0413 a0001c0001t0005g0414 a0002c0002t0001g0233 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277	18	416	0.0433	-30	c.881 others(45): Show c.881-531_881-502delATATATATATATATATATATATATATATAT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	10/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021867	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	416	0.0024	-30	c.-16 others(47): Show c.-163-406_-163-377delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021926	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01167.hp1 HG01169.hp1 others(6): Show HG00323.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02129.hp1 HG02647.hp1 NA19088.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(6): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0310 a0001c0001t0005g0413 a0001c0001t0005g0414 a0001c0003t0001g0220 a0001c0003t0001g0297 a0002c0002t0001g0254	9	416	0.0216	-30	c.-16 others(47): Show c.-163-465_-163-436delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021935	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01168.hp2 others(5): Show HG00280.hp1 HG00438.hp2 HG01168.hp2 HG01169.hp2 HG01978.hp2 HG02015.hp1 HG02129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0002g0336 a0002c0002t0001g0248 a0002c0002t0001g0273 a0002c0004t0001g0267	8	416	0.0192	-30	c.-16 others(47): Show c.-163-474_-163-445delCTCTTCTTCCTCTTCTTCTTCTTCTTCT TC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar

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