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
GALNT9_chr12_132191372_132334589	132232283	TGACAGGG others(38): Show TGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	-45	c.107 others(66): Show c.1077+15582_1077+15626delGCCCCATCGAGTGTGTAGCACTAG GGGCTCCACGCTGTCCCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132235120	AGACAGCG others(38): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02735.hp2 HG01243.hp1 HG02735.hp2	a0001 a0001	a0001c0018 a0001c0021 a0001c0018 a0001c0021	a0001c0018t0001 a0001c0021t0004 a0001c0018t0001 a0001c0021t0004	a0001c0018t0001g0047 a0001c0021t0004g0155 a0001c0018t0001g0047 a0001c0021t0004g0155	2	183	0.0109	-45	c.107 others(66): Show c.1077+12745_1077+12789delCCTGTCACCCCATCGAGTGTGTGG CACTAGGGACTCCACGCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240922	CCCCATTA others(38): Show CCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18971.hp2 NA18961.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0163 a0001c0002t0001g0022 a0001c0002t0001g0163	2	183	0.0109	-45	c.107 others(64): Show c.1077+6943_1077+6987delTATAGGGAGGGCCCCGGGAAGGGGGT GTGGCGTGTGTGTAATGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241087	CGGGGCCC others(38): Show CGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18945.hp1 NA18961.hp2 others(2): Show HG02027.hp2 NA18945.hp1 NA18961.hp2 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0001 a0001c0009t0002 a0001c0004t0001 a0001c0009t0002	a0001c0004t0001g0020 a0001c0009t0002g0168 a0001c0009t0002g0174 others(2): Show a0001c0004t0001g0020 a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177	5	183	0.0273	-45	c.107 others(64): Show c.1077+6778_1077+6822delTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62477254	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02258.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0221 a0001c0002t0003g0016 a0001c0002t0003g0221	2	382	0.0052	-45	c.-13 others(56): Show c.-1391_-1347delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1260		chr20	TogoVar
GCH1_chr14_54837017_54907826	54880539	TATATATA others(38): Show TATATATATATACTCCATATATATATACTCCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18952.hp2 NA18943.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0252 a0001c0001t0002g0249 a0001c0001t0001g0252 a0001c0001t0002g0249	2	346	0.0058	-45	c.344 others(64): Show c.344-15148_344-15104delGGAGTATATATATATGGAGTATATAT ATATGGAGTATATATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880586	TATATATA others(38): Show TATATATATACTCCATATATATATATACTCCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18990.hp1 NA20805.hp2 HG03490.hp1 NA18990.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0112 a0001c0001t0001g0221 a0001c0001t0001g0241	3	346	0.0087	-45	c.344 others(64): Show c.344-15195_344-15151delGGAGTATATATATATGGAGTATATAT ATATATGGAGTATATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880678	CATATATA others(38): Show CATATATATATACTCATATATATATACTCCATATATATATACTCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(49): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG02895.hp1 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18960.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0118 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0008 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0186 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0008g0215 a0001c0001t0008g0290 a0001c0001t0014g0189 a0001c0001t0014g0196 a0001c0001t0025g0267 a0001c0001t0026g0285	52	346	0.1503	-45	c.344 others(64): Show c.344-15287_344-15243delATGAGTATATATATATGGAGTATATA TATATGAGTATATATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(38): Show ACCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02717.hp1 others(5): Show HG02109.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 NA18979.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0006 others(1): Show a0001c0001 a0001c0003 a0003c0006 a0004c0009	a0001c0001t0016 a0001c0001t0046 a0001c0003t0006 others(4): Show a0001c0001t0016 a0001c0001t0046 a0001c0003t0006 a0001c0003t0077 a0003c0006t0004 a0004c0009t0002 a0004c0009t0005	a0001c0001t0016g0104 a0001c0001t0046g0129 a0001c0003t0006g0011 others(4): Show a0001c0001t0016g0104 a0001c0001t0046g0129 a0001c0003t0006g0011 a0001c0003t0077g0210 a0003c0006t0004g0154 a0004c0009t0002g0040 a0004c0009t0005g0101	8	398	0.0201	-45	c.-13 others(56): Show c.-1346_-1302delCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGG	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding		63		chr7	TogoVar
GLRA3_chr4_174631920_174834247	174692187	TCCACCCA others(38): Show TCCACCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp2 HG02630.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0002t0042 a0001c0001t0043 a0001c0002t0042	a0001c0001t0043g0174 a0001c0002t0042g0043 a0001c0001t0043g0174 a0001c0002t0042g0043	2	296	0.0068	-45	c.575 others(62): Show c.575-9293_575-9249delGGGCTGACCCCCACCTCCCTCCCGGACG GGGTGGCTGCTGGGTGG	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	5/9			chr4	TogoVar
GLT8D2_chr12_103983987_104055187	104021911	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03139.hp2 NA18747.hp1 others(1): Show HG02040.hp1 HG03139.hp2 NA18747.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0073 a0001c0003t0001g0299 a0001c0003t0001g0308 others(1): Show a0001c0001t0001g0073 a0001c0003t0001g0299 a0001c0003t0001g0308 a0001c0003t0001g0312	4	416	0.0096	-45	c.-16 others(62): Show c.-163-465_-163-421delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021926	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	416	0.0024	-45	c.-16 others(62): Show c.-163-480_-163-436delCTCTTCCTCTTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022013	AGAAGAAG others(38): Show AGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20129.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0103 a0001c0001t0001g0110	2	416	0.0048	-45	c.-16 others(62): Show c.-163-567_-163-523delCCCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTTTCTTCTTC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLTPD2_chr17_4783964_4795589	4792025	ATGTTGTA others(38): Show ATGTTGTATTCCTTTTTTTTTTTTTTTTTGAGAACAACTCTTGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	460	0.0022	-45	c.17 others(56): Show c.1730_*1774delTGTTGTATTCCTTTTTTTTTTTTTTTTTGAGAAC AACTCTTGCTC	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		1437		chr17	TogoVar
GMDS_chr6_1618806_2250605	1999970	TTATATAT others(38): Show TTATATATATATTTTATATATATATATTATATATATATATTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp1 NA19043.hp2 HG02451.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0094 a0001c0002t0001g0164 a0002c0003t0001g0001 a0001c0002t0001g0094 a0001c0002t0001g0164 a0002c0003t0001g0001	3	166	0.0181	-45	c.346 others(64): Show c.346-39049_346-39005delTAAAAAATATATATATATAATATATA TATATAAAATATATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GNA12_chr7_2723105_2849308	2785651	TATACACA others(38): Show TATACACACACATTTTTCTTCATGTGTAAGTGTATTGTGTATGTGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG00741.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0018 a0001c0004t0014 a0001c0004t0018	a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 others(2): Show a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 a0001c0004t0018g0265 a0001c0004t0018g0266	5	322	0.0155	-45	c.525 others(62): Show c.525+9232_525+9276delGCACATACACAATACACTTACACATGAA GAAAAATGTGTGTGTAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GON4L_chr1_155744659_155862214	155791880	AACATAAC others(38): Show AACATAACATAACATAACATAACATAACATAACATAACATAACATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01109.hp2 others(13): Show HG00140.hp1 HG01106.hp2 HG01109.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02897.hp1 HG02965.hp2 HG03471.hp1 HG03834.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0006t0001 a0001c0006t0004 a0001c0011t0001 a0004c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0006g0016 a0001c0001t0006g0217 a0001c0001t0009g0215 a0001c0006t0001g0209 a0001c0006t0004g0210 a0001c0006t0004g0211 a0001c0006t0004g0212 a0001c0011t0001g0218 a0004c0007t0001g0214 a0004c0007t0001g0216	16	218	0.0734	-45	c.174 others(64): Show c.1747+3125_1747+3169delGATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGT	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	12/31			chr1	TogoVar
GP6_chr19_55008705_55043264	55029332	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02155.hp1 HG02809.hp2 others(1): Show HG01496.hp2 HG02155.hp1 HG02809.hp2 NA19009.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0004 a0001c0001t0001 a0002c0002t0001 a0005c0006t0004	a0001c0001t0001g0083 a0002c0002t0001g0333 a0002c0002t0001g0396 others(1): Show a0001c0001t0001g0083 a0002c0002t0001g0333 a0002c0002t0001g0396 a0005c0006t0004g0084	4	441	0.0091	-45	c.326 others(62): Show c.326-1515_326-1471delAAATATATATATATATATATATATATAT ATATATATATATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029336	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01169.hp2 others(6): Show HG00741.hp2 HG01167.hp2 HG01169.hp2 HG02572.hp2 HG02818.hp2 HG03139.hp2 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0002c0002t0002 a0007c0009t0002 a0002c0002t0001 a0002c0002t0002 a0007c0009t0002	a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0002g0123 others(5): Show a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0002g0123 a0007c0009t0002g0005 a0007c0009t0002g0077 a0007c0009t0002g0101 a0007c0009t0002g0116 a0007c0009t0002g0422	9	441	0.0204	-45	c.326 others(62): Show c.326-1519_326-1475delAAAAAAATATATATATATATATATATAT ATATATATATATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GPAT3_chr4_83531108_83610875	83562193	ATATATAA others(38): Show ATATATAATATATATATATTATATATATATATAATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02622.hp2 others(4): Show HG01891.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0005g0197 a0001c0001t0006g0001 a0001c0001t0006g0002 others(4): Show a0001c0001t0005g0197 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0207 a0001c0001t0007g0009 a0001c0001t0007g0204 a0001c0001t0007g0205	7	334	0.0210	-45	c.208 others(64): Show c.208+17592_208+17636delTATATAATATATATATATTATATATA TATATAATATATATATAAT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11			chr4	TogoVar
GPAT3_chr4_83531108_83610875	83562195	ATATAATA others(38): Show ATATAATATATATATATTATATATATATATAATATATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0208 a0001c0001t0006g0208	1	334	0.0030	-45	c.208 others(64): Show c.208+17594_208+17638delTATAATATATATATATTATATATATA TATAATATATATATAATAT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11			chr4	TogoVar
GPC5_chr13_91393621_92872237	92006943	TGTTATGA others(38): Show TGTTATGAATTCTGCTTTAATTACATATCTTCAATCATATTGCTTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	42	0.0238	-45	c.140 others(66): Show c.1401+98891_1401+98935delTGAATTCTGCTTTAATTACATATC TTCAATCATATTGCTTAGTTA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92031701	ATTATATA others(38): Show ATTATATATATTACATATATGTAATATATTACATATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	42	0.0238	-45	c.140 others(68): Show c.1402-113128_1402-113084delTTATATATATTACATATATGTA ATATATTACATATTATATATAAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7			chr13	TogoVar
GPC6_chr13_93221807_94413020	93676113	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0005 a0001c0001t0027g0005	1	76	0.0132	-45	c.319 others(66): Show c.319+130694_319+130738delAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93676115	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG02055.hp2 others(5): Show HG01167.hp1 HG01433.hp2 HG02055.hp2 HG02451.hp2 HG02970.hp1 HG03486.hp2 HG03540.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0003t0030 a0003c0004t0003	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0004g0070 a0001c0001t0012g0002 a0001c0003t0030g0024 a0003c0004t0003g0058	8	76	0.1053	-45	c.319 others(66): Show c.319+130696_319+130740delAAAAAAAAAAATATATATATATAT ATATATATATATATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPD1L_chr3_32101620_32173709	32169882	TGGGGGTC others(38): Show TGGGGGTCAGCCCTTGCCAGGCCAGCCGCCCCGTCCGGGAAGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03516.hp1 others(2): Show HG03041.hp1 HG03195.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0028 a0001c0001t0001 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0053 a0001c0001t0011g0054 a0001c0001t0011g0279 others(2): Show a0001c0001t0001g0053 a0001c0001t0011g0054 a0001c0001t0011g0279 a0001c0001t0011g0280 a0001c0001t0028g0115	5	360	0.0139	-45	c.39 others(56): Show c.3973_*4017delGGGGGTCAGCCCTTGCCAGGCCAGCCGCCCCGTC CGGGAAGGGGG	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding		1174		chr3	TogoVar
GPR15LG_chr10_84168801_84190294	84186258	CAAAGCTG others(38): Show CAAAGCTGTGGGCACCCAGGTAAGAACAGAGGGCTGGGACTGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	458	0.0022	-45	c.14 others(56): Show c.1493_*1537delAAAGCTGTGGGCACCCAGGTAAGAACAGAGGGCT GGGACTGCAGG	GPR15LG	ENSG00000188373.5	transcript	ENST00000372126.4	protein_coding		965		chr10	TogoVar
GPR39_chr2_132411805_132651582	132493335	TACCATAT others(38): Show TACCATATATATACACATACCACATATATACACTATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	208	0.0048	-45	c.856 others(64): Show c.856+75441_856+75485delATATATATACACATACCACATATATA CACTATATATATACACACC	GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRID1_chr10_85594552_86371795	85819014	TCCTGCAC others(38): Show TCCTGCACAATAGTATTTGATTATAACTCAAAGATTGGCATAAAAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	96	0.0104	-45	c.123 others(66): Show c.1233+35437_1233+35481delTTTTTATGCCAATCTTTGAGTTAT AATCAAATACTATTGTGCAGG	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	8/15			chr10	TogoVar
GRIK1_chr21_29531933_29944996	29734345	ACTTTTCT others(38): Show ACTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0139 a0001c0001t0001g0036 a0001c0001t0001g0139	2	162	0.0124	-45	c.119 others(64): Show c.119-40327_119-40283delAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRM1_chr6_146024062_146442601	146267640	GCGCTGGG others(38): Show GCGCTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0103 a0001c0004t0005g0103	1	158	0.0063	-45	c.951 others(64): Show c.951-36970_951-36926delCGCTGGGCTGGGCTGGGCTGGGCTGG GCTGGGCTGGGCTGGGCTC	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7			chr6	TogoVar
GRTP1_chr13_113319163_113369130	113352995	GCCCACAG others(38): Show GCCCACAGCTGAAAGCAGGGACCCAGCCCCACACTCTGGGTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp2 HG02451.hp2 others(3): Show HG01952.hp2 HG02280.hp2 HG02451.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0002 a0001c0001t0003 a0008c0012t0003 a0001c0001t0002 a0001c0001t0003 a0008c0012t0003	a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0003g0265 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0066 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0008c0012t0003g0268	6	288	0.0208	-45	c.341 others(62): Show c.341-2067_341-2023delTTCCTACCCAGAGTGTGGGGCTGGGTCC CTGCTTTCAGCTGTGGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7			chr13	TogoVar
GSDME_chr7_24693355_24762464	24762115	GTGATGGT others(38): Show GTGATGGTGCATACCTGTAGTCCCAGCTACTCGGGAGGCTGATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	410	0.0024	-45	c.-47 others(56): Show c.-4784_-4740delTGCATCAGCCTCCCGAGTAGCTGGGACTACAGGT ATGCACCATCA	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding		4652		chr7	TogoVar
GUCY2C_chr12_14607632_14701599	14696960	GTGTATAT others(38): Show GTGTATATATATATATATATATATATATATAAAGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0214 a0001c0007t0001g0219 a0001c0007t0001g0214 a0001c0007t0001g0219	2	236	0.0085	-45	c.-55 others(54): Show c.-557_-513delTATATATATACACTTTATATATATATATATATATAT ATATATACA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		362		chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696995	GTATATAT others(38): Show GTATATATATATATATATATATATATATATAAAGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	236	0.0042	-45	c.-59 others(54): Show c.-592_-548delTATATATATACACTTTATATATATATATATATATAT ATATATATA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		397		chr12	TogoVar
HACD2_chr3_123486554_123590053	123530115	GATTAATG others(38): Show GATTAATGAGGTTGAAGCAATAACTACCTAGGCACCTGTAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0086 a0001c0002t0009g0086	1	350	0.0029	-45	c.293 others(62): Show c.293-1686_293-1642delTTTCCTTACAGGTGCCTAGGTAGTTATT GCTTCAACCTCATTAAT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HCAR2_chr12_122696293_122708357	122708077	CCAGCCAT others(38): Show CCAGCCATGGATTTATCTATGCCTGCAAATACCTGTATGAGTTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-45	c.-48 others(56): Show c.-4839_-4795delCCCAACTCATACAGGTATTTGCAGGCATAGATAA ATCCATGGCTG	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		4721		chr12	TogoVar
HCLS1_chr3_121626399_121665903	121644181	TGAGTTCA others(38): Show TGAGTTCAAAGAATCCGACCTAATAAGGCGTGGAACTAAAAACATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0232 a0002c0001t0001g0232	1	390	0.0026	-45	c.399 others(60): Show c.399+592_399+636delGATGTTTTTAGTTCCACGCCTTATTAGGTC GGATTCTTTGAACTC	HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding	5/13			chr3	TogoVar
HEXIM1_chr17_45143475_45157099	45154288	GTGGGTGG others(38): Show GTGGGTGGATCTCTTGAGATCTGGAGTTAAGAGACCAGCCTGACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	442	0.0023	-45	c.40 others(56): Show c.4019_*4063delTGGGTGGATCTCTTGAGATCTGGAGTTAAGAGAC CAGCCTGACCA	HEXIM1	ENSG00000186834.4	transcript	ENST00000332499.4	protein_coding		2190		chr17	TogoVar
HINT3_chr6_125951770_125985244	125962271	CATACATA others(38): Show CATACATATATATATACACATATATATATATATATATCACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	268	0.0037	-45	c.202 others(62): Show c.202-4612_202-4568delCATATATATATACACATATATATATATA TATATCACACATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIPK2_chr7_139556570_139782998	139579640	AAGGAAAA others(38): Show AAGGAAAACCGGAAACCTGGGGACAGAAGTTTCTGGTGCTCACTAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0133 a0001c0001t0034g0133	1	154	0.0065	-45	c.296 others(64): Show c.2965+4132_2965+4176delGTAGTGAGCACCAGAAACTTCTGTCC CCAGGTTTCCGGTTTTCCT	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	13/14			chr7	TogoVar
HMCN2_chr9_130260760_130439123	130277952	TCACCACC others(38): Show TCACCACCACCACCACCATCATCATCACCACCACCACGATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0158 a0158	a0158c0210 a0158c0210	a0158c0210t0002 a0158c0210t0002	a0158c0210t0002g0208 a0158c0210t0002g0208	1	258	0.0039	-45	c.260 others(62): Show c.260-6639_260-6595delCCACCATCATCATCACCACCACCACGAT CATCACCACCACCACCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HNF1B_chr17_37681431_37750059	37745915	GAGGATGG others(38): Show GAGGATGGTGAGGCAGAATGGTGAGGCACTAGGATGGTGAGGCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG00741.hp1 others(42): Show HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01256.hp1 HG01361.hp1 HG02004.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03195.hp2 HG03453.hp2 HG03669.hp1 HG04228.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18973.hp2 NA18981.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19074.hp1 NA19078.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0009 a0002c0004t0001 a0002c0004t0003 a0003c0007t0001	a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0212 others(42): Show a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0003g0122 a0001c0001t0003g0197 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0231 a0001c0001t0003g0248 a0001c0001t0003g0272 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0233 a0001c0001t0004g0244 a0001c0001t0004g0261 a0001c0001t0005g0218 a0001c0001t0006g0246 a0001c0001t0008g0239 a0001c0002t0009g0221 a0002c0004t0001g0404 a0002c0004t0003g0405 a0003c0007t0001g0235	45	409	0.1100	-45	c.-10 others(56): Show c.-1076_-1032delAGTGCCTCACCATCCTAGTGCCTCACCATTCTGC CTCACCATCCT	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding		857		chr17	TogoVar
HNRNPCL2_chr1_13110488_13121854	13121038	GAAAGGAA others(38): Show GAAAGGAAACACATTTTATAATCATTTATTCACTATGACTATGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	425	0.0024	-45	c.-44 others(56): Show c.-4472_-4428delTGCCATAGTCATAGTGAATAAATGATTATAAAAT GTGTTTCCTTT	HNRNPCL2	ENSG00000275774.3	transcript	ENST00000621994.3	protein_coding		4185		chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23279762	ATGAGCCA others(38): Show ATGAGCCACCGCGCCTGGCCACTATTTTTTTTTAGAGACAAGTTCT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	394	0.0025	-45	c.41- others(60): Show c.41-2620_41-2576delAGAACTTGTCTCTAAAAAAAAATAGTGGCC AGGCGCGGTGGCTCA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPGDS_chr4_94293535_94347836	94340285	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	312	0.0032	-45	c.-10 others(62): Show c.-10+2465_-10+2509delAAAAAAAAAAAAAAAAAAAGAGAAAGAA AGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPSE2_chr10_98452077_99240852	99132192	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	142	0.0070	-45	c.610 others(64): Show c.610+12001_610+12045delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS3ST4_chr16_25686959_26142685	26134004	GACTGTAT others(38): Show GACTGTATAATGGCATTCTAAGCTTAATTTTATCATTGATAAGCCT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	164	0.0061	-45	c.735 others(62): Show c.735-1607_735-1563delACTGTATAATGGCATTCTAAGCTTAATT TTATCATTGATAAGCCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HSF1_chr8_144286604_144319720	144313660	GCCGCGCC others(38): Show GCCGCGCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	330	0.0030	-45	c.124 others(60): Show c.1248+46_1248+90delCGCGCCGCCCCGCCTCCCCGCCCCGCCTCC CCGCCTCCCCGCGCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(38): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG02109.hp2 others(14): Show HG00408.hp1 HG00423.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG03209.hp1 HG03688.hp1 HG03927.hp2 NA18948.hp1 NA18960.hp1 NA18967.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0014 a0026 a0028	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0003c0030 a0004c0006 a0014c0022 a0026c0054 a0028c0050	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0004t0020 a0001c0005t0092 a0002c0003t0001 a0002c0003t0014 a0002c0003t0060 a0003c0030t0025 a0004c0006t0002 a0014c0022t0038 a0014c0022t0040 a0026c0054t0001 a0028c0050t0025	a0001c0001t0001g0301 a0001c0001t0008g0042 a0001c0001t0014g0300 others(14): Show a0001c0001t0001g0301 a0001c0001t0008g0042 a0001c0001t0014g0300 a0001c0004t0020g0253 a0001c0005t0092g0025 a0002c0003t0001g0179 a0002c0003t0001g0255 a0002c0003t0001g0260 a0002c0003t0001g0276 a0002c0003t0014g0177 a0002c0003t0060g0215 a0003c0030t0025g0257 a0004c0006t0002g0072 a0014c0022t0038g0275 a0014c0022t0040g0270 a0026c0054t0001g0214 a0028c0050t0025g0227	17	310	0.0548	-45	c.684 others(64): Show c.6843-1795_6843-1751delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47			chr6	TogoVar

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