Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(92): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	132	0.0076	99	c.-46 others(118): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAG		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXNA4_chr7_132118340_132581470	132179267	T T	TTGCCTGG others(92): Show TTGCCTGGCCTGCTTGCTTGTAAATAAAACACATACATATACACACACAT GCGCGTGCACACACACACACACACACCCAGCCTCCAACACTGCTCACAGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0022 a0001c0022t0022	a0001c0022t0022g0081 a0001c0022t0022g0081	1	70	0.0143	99	c.387 others(116): Show c.3874+419_3874+420insGCTGTGAGCAGTGTTGGAGGCTGGGTGT GTGTGTGTGTGTGTGCACGCGCATGTGTGTGTATATGTATGTGTTTTATT TACAAGCAAGCAGGCCAGGCA		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	20/31						chr7	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(92): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCACCTC CCCCTGCCCCACCCACACCCCTCCCCGCCCCCCACACCCCTCCCCGCCCC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	135	0.0074	99	c.106 others(116): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCAC CTCCCCCTGCCCCACCCACACCCCTCCCCGCCCCCCACACCCCTCCCCGC CCCCCACACCCCTCCCCACCC		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(92): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCGCCCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	135	0.0074	99	c.106 others(116): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCGC CCCCCACACCCCTCCCCACCC		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
POMC_chr2_25155860_25173580	25161587	C C	CGCCGCTG others(92): Show CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG CTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0025 a0003c0004t0001g0025	2	380	0.0053	99	c.297 others(106): Show c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAG CAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCG GCAGCAGCGGC	p.Gly others(111): Show p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSer GlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySe rSerGlySerSerGly	POMC	ENSG00000115138.11	transcript	ENST00000395826.7	protein_coding	3/3	400/1128	297/804	99/267			chr2	TogoVar
POR_chr7_75910155_75991855	75988926	T T	TGGGGGGG others(92): Show TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGAAGGCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	172	0.0058	99	c.24 others(110): Show c.2445_*2446insGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGAAGGCGGGGA		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2072		chr7	TogoVar
PPP2R2C_chr4_6315581_6477614	6336817	C C	CTCCCTCC others(92): Show CTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCT CCTTCCCTCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	210	0.0048	99	c.791 others(116): Show c.791-3087_791-3086insAGGAGGGAGGGAGGGAGGGAGGGATGGA AGCAGGGAGGGAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGG AGGGAGGGAAGGAGGGAGGGA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676939	T T	TCTCCCTT others(92): Show TCTCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTT CCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	264	0.0038	99	c.845 others(116): Show c.845-1292_845-1291insTCCCTTCCCCCTTCCCCCTTCCCCCTTC CCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCC CCCTTCCCCCTTCCCCCTTCC		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2123295	A A	AGTTAGGG others(92): Show AGTTAGGGTCGTGGTGGTTAGGGTTATGGTGGTAGTTAGGGTCGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0156 a0001c0003t0004g0156	1	247	0.0040	99	c.335 others(118): Show c.335-11958_335-11957insGTGGTGGTTAGGGTTATGGTGGTAGT TAGGGTCGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCACGGCGGTGGTTA GGGTCACGGCGGTGGTTAGGGTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639336	G G	GATGAAGG others(92): Show GATGAAGGGGTAGGTGGGTGGATGGATGGATGGATGGACGGATGAAGGGG TGGGGGGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0064 a0001c0001t0069g0064	1	123	0.0081	99	c.719 others(116): Show c.719+2515_719+2516insTCAATCATCCATCCACCCACCCTTCATC CATCCACCCCCCGACCCCCCCACCCCTTCATCCGTCCATCCATCCATCCA TCCACCCACCTACCCCTTCAT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(92): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA19056.hp1 HG03209.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0019 a0001c0001t0001g0005 a0001c0002t0001g0019	2	179	0.0112	99	c.-47 others(110): Show c.-4740_-4739insCCCGCCCGGCCAGCCGCCCCATCTTGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(92): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	178	0.0056	99	c.-47 others(110): Show c.-4740_-4739insCCGCCCGGCCAGCCGCCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(92): Show AGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGTGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	178	0.0056	99	c.-47 others(110): Show c.-4740_-4739insCCGCCCGGCCAGCCACCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689507	A A	AGGGGCTG others(92): Show AGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0234 a0001c0011t0001g0234	1	178	0.0056	99	c.-47 others(110): Show c.-4740_-4739insCCGCCCGGCCAGCCGCCCCATCTTGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCC		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4641		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689515	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02280.hp2 HG03927.hp2 others(1): Show HG00597.hp1 HG02280.hp2 HG03927.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0169 a0001c0002t0001g0019 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0169 a0001c0002t0001g0019 a0001c0002t0001g0121	4	280	0.0143	99	c.-47 others(110): Show c.-4748_-4747insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTTG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGG		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4649		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689515	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCCACCTCCCTCCAAGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	277	0.0036	99	c.-47 others(110): Show c.-4748_-4747insGTCAGCCCCCCGCCCGGCCAGCCACCCCATCTTG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGG		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4649		chr17	TogoVar
PSME4_chr2_53859069_53975993	53940934	T T	TATTTAAA others(92): Show TATTTAAATATATATATATAATACATATTTAAATATATATAATACATATT TAAATATATATATAATACATATTTAAATATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0080 a0002c0003t0002g0080	1	382	0.0026	99	c.501 others(114): Show c.501-935_501-934insTTAAATATGTATATATATATATATTTAAAT ATGTATTATATATATATTTAAATATGTATTATATATATTTAAATATGTAT TATATATATATATTTAAAT		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46						chr2	TogoVar
PSME4_chr2_53859069_53975993	53940936	T T	TTTAAATA others(92): Show TTTAAATATATATATATAATACATATTTAAATATATATAATACATATTTA AATATATATATAATACATATTTAAATATATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0066 a0002c0003t0002g0066	1	377	0.0027	99	c.501 others(114): Show c.501-937_501-936insTTAAATATGTATATATATATATATATTTAA ATATGTATTATATATATATTTAAATATGTATTATATATATTTAAATATGT ATTATATATATATATTTAA		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46						chr2	TogoVar
PTPRT_chr20_42067756_43194906	42508951	T T	TATTTAAT others(92): Show TATTTAATTTATAGATATAAATTATATAATTTACATTTAATTTATAGATA TAAATTATATAATTTACATTTAATTTATAGATATAAATTATATAATTTAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0028 a0001c0027t0028	a0001c0027t0028g0049 a0001c0027t0028g0049	1	44	0.0227	99	c.115 others(120): Show c.1154-36390_1154-36389insGTAAATTATATAATTTATATCTAT AAATTAAATGTAAATTATATAATTTATATCTATAAATTAAATGTAAATTA TATAATTTATATCTATAAATTAAAT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(92): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0107 a0001c0001t0082g0107	1	89	0.0112	99	c.24+ others(116): Show c.24+14560_24+14561insCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(92): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCAGGCCCACCAGGCCCA CCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	119	0.0084	99	c.397 others(112): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(92): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp1 HG01496.hp2 others(9): Show HG00140.hp1 HG01346.hp1 HG01496.hp2 HG01978.hp2 HG02273.hp1 HG04204.hp1 HG06807.hp1 NA18944.hp1 NA18970.hp2 NA18990.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0137 a0001c0001t0001g0154 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0204 a0001c0001t0004g0170 a0001c0001t0004g0181 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0254	12	130	0.0923	99	c.397 others(112): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGCCTGGTGGGGATGG TGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(92): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCA CCAGGCTCACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCACCAGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02165.hp1 NA18939.hp2 others(3): Show HG01261.hp2 HG02165.hp1 NA18939.hp2 NA18954.hp2 NA18964.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0020 a0001c0001t0002 a0001c0001t0017 a0001c0001t0020	a0001c0001t0002g0023 a0001c0001t0002g0117 a0001c0001t0002g0230 others(2): Show a0001c0001t0002g0023 a0001c0001t0002g0117 a0001c0001t0002g0230 a0001c0001t0017g0210 a0001c0001t0020g0209	6	124	0.0484	99	c.397 others(112): Show c.397-73_397-72insCCTGGTGAGCCTGGTGGGGATGGTGGGGATGG TGGGCCTGGTGAGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985764	C C	CCCCACCA others(92): Show CCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02965.hp1 others(1): Show HG02622.hp1 HG02723.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0069 a0001c0002t0003g0007 a0001c0002t0003g0279 a0001c0001t0003g0069 a0001c0002t0003g0007 a0001c0002t0003g0279	4	17	0.2353	99	c.397 others(113): Show c.397-100_397-99insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RABEP1_chr17_5277284_5391340	5282090	C C	CCTCCCGC others(92): Show CCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCC GCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	305	0.0033	99	c.-39 others(108): Show c.-397_-396insCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTC CCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCGCGCTCCCGCCG CGCTCCCGCCGCG		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding					193		chr17	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(92): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATATATGTATATATATATATATATATATATATACATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0103 a0001c0006t0009g0103	1	234	0.0043	99	c.-27 others(110): Show c.-2770_-2769insAAAAATATATATATATGTATATATATATATATAT ATATATATACATATATATATATATATATATATATATATACATATATATAT ATATATATATATATA		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding					2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(92): Show TATATATATATATATATATATATATATGTATATATATATATATATATATA TATATGTATATATATATATATATATATATATACATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA19081.hp2 NA18983.hp2 NA19081.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0001 a0002c0016t0002g0001	2	185	0.0108	99	c.-27 others(110): Show c.-2771_-2770insTATATATATATATATATGTATATATATATATATA TATATATATACATATATATATATATATATATATATATACATATATATATA TATATATATATATAT		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding					2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(92): Show CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCG GGGGGGACGGGGGGCGGGGGGGGACGGGGGGCGGGGGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	209	0.0048	99	c.-57 others(108): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GGGACGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGACGGGGGGCGGGGG GGGGCGGGGGGCG		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					397		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350904	G G	GCGGGGGG others(92): Show GCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGGG GCGGGGGGGGCGGGGGGGCGGGGGGACGGGGGCGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	325	0.0031	99	c.-52 others(108): Show c.-526_-525insCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCG GGGGGGACGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGACGGGGGCGGGG GGGCGGGGGGGGC		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					350		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350910	G G	GGGCGGGG others(92): Show GGGCGGGGGGGGGCGGGGGGACGGGGGGCGGGGGACGGGGGGCGCGGGGG GACGGGGGGCGGGGGGGACGGGGGGCGCGGGGGGGCGGGGGGGGGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0122 a0001c0002t0006g0008 a0001c0002t0006g0122	2	330	0.0061	99	c.-52 others(108): Show c.-520_-519insGGCGGGGGGGGGCGGGGGGACGGGGGGCGGGGGACG GGGGGCGCGGGGGGACGGGGGGCGGGGGGGACGGGGGGCGCGGGGGGGCG GGGGGGGGGCGGC		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					344		chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458824	A A	ATATATAT others(92): Show ATATATATAGGTCTATATATATATAGGTCTATTATAGACCTATATATATA GACCTATATATATATAGACCTATATATATAGACCTATATATATATAGACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 NA19054.hp1 HG02647.hp2 HG03139.hp2 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0073 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0073	3	106	0.0283	99	c.549 others(120): Show c.5495+14004_5495+14005insGGTCTATATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATAATAGAC CTATATATATATAGACCTATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RALGPS1_chr9_126909782_127228166	127182392	C C	CCCTCCCT others(92): Show CCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	274	0.0036	99	c.910 others(116): Show c.910+7617_910+7618insCCCTTCCTTCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTCCTCCCT		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127182435	T T	TTCCTTCT others(92): Show TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	263	0.0038	99	c.910 others(116): Show c.910+7654_910+7655insCCTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCC TTCCTCCCTTCCTTCCTTCCT		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
RANGRF_chr17_8283670_8295087	8283995	T T	TTTTTGAG others(92): Show TTTTTGAGACAGTCAATGAGCTTGGATAAAAATTTCATCTTTCTTTTTCC TTTTTTTTTTTTTGAGACGGAGTTTAGCTCTTGTCGCCCAGGCTATGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	99	c.-47 others(110): Show c.-4794_-4793insTTTTGAGACAGTCAATGAGCTTGGATAAAAATTT CATCTTTCTTTTTCCTTTTTTTTTTTTTGAGACGGAGTTTAGCTCTTGTC GCCCAGGCTATGATA		RANGRF	ENSG00000108961.14	transcript	ENST00000226105.11	protein_coding					4674		chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000979	A A	AGGCTGGT others(92): Show AGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0078 a0002c0012t0003g0078	1	216	0.0046	99	c.120 others(118): Show c.1200+2607_1200+2608insGGTGGAGGTAACAGTATCAGCCTCAG GGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGGGGCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001064	T T	TCCAGGCT others(92): Show TCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0114 a0001c0002t0114	a0001c0002t0114g0105 a0001c0002t0114g0105	1	188	0.0053	99	c.120 others(118): Show c.1200+2756_1200+2757insACAGAAGAAGCAGGGAGTGCAGGTCC AAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGG GCCTTCCTGATGCCGGAGAAGGG		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114044284	G G	GCCCCGCC others(92): Show GCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCTCACTCGCTGAGCCCCCC TTCGCCTCACTCGCTGAGCCCCCCGCCCCTCCTCACTCGCTGCGCTCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	62	0.0161	99	c.278 others(116): Show c.278-3191_278-3190insGGGGAGCGCAGCGAGTGAGGAGGGGCGG GGGGCTCAGCGAGTGAGGCGAAGGGGGGCTCAGCGAGTGAGGCGGGGGGG GGCTCAGCGAGTGAGGCGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114120186	T T	TCTCTCCA others(92): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02300.hp2 NA18945.hp2 others(2): Show HG01981.hp1 HG02300.hp2 NA18945.hp2 NA18971.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0007g0033 a0001c0002t0002g0036	5	47	0.1064	99	c.55+ others(116): Show c.55+12248_55+12249insGGGGGGACTTGATCGACGCCTGGCTGGA GAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCT GATCGACGCCTGGCTGGAGAG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASSF3_chr12_64605495_64702564	64640606	T T	TAAAAAAA others(92): Show TAAAAAAAAAAAAAAAAAAAAAAAATAAAAAATCAAAATAAAAAAAAAAA AATAAAATCAAAAAAAATAAAAAAAAAAATATAAATCAAATAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0162 a0001c0001t0011g0162	1	368	0.0027	99	c.111 others(118): Show c.111+29863_111+29864insAAAAAAAAAAAAAAAAAAAAAAAATA AAAAATCAAAATAAAAAAAAAAAAATAAAATCAAAAAAAATAAAAAAAAA AATATAAATCAAATAAAAAAAAA		RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4						chr12	TogoVar
RBBP6_chr16_24534566_24577863	24575756	A A	AGAGAGGG others(92): Show AGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGGAGGGGGAGAGGGAGAGGG AGGAGAGGGAGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGGAGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	172	0.0058	99	c.33 others(110): Show c.3311_*3312insGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGGAGG GGGAGAGGGAGAGGGAGGAGAGGGAGGAGAGGGAGAGGGAGGAGGGAGAG AGGGAGGAGAGGGAG		RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding					2894		chr16	TogoVar
RBCK1_chr20_403299_437139	407969	C C	CCGCCCAC others(92): Show CCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACC CCGCCTCGCGGCCCCCGGCCCCGCCCCCCGGCCCCGCCCACCCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	132	0.0076	99	c.-78 others(108): Show c.-789_-788insCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCC GGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCCGGCCCCGC CCACCCCGCCTCG		RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding					329		chr20	TogoVar
RBCK1_chr20_403299_437139	407993	C C	CGCCCACC others(92): Show CGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCC CGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18983.hp1 NA18956.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0003g0191 a0001c0001t0001g0195 a0001c0001t0003g0191	2	437	0.0046	99	c.-76 others(108): Show c.-765_-764insGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCG GCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCC ACCCCGCCTCGCG		RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding					305		chr20	TogoVar
RERE_chr1_8347404_8822640	8501885	T T	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0123 a0001c0019t0014g0123	1	162	0.0062	99	c.880 others(116): Show c.880-4357_880-4356insCACCTCCCTCCCGGACGGGGCGGCTGGC CGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22						chr1	TogoVar
RGS17_chr6_152999459_153136282	153053961	T T	TTATATAC others(92): Show TTATATACATATATACGTATATATGTATATATTATATATACATATATACG TATATATGTATATAATATATATACATATATACGTATATATGTATATAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	204	0.0049	99	c.-25 others(116): Show c.-25-9919_-25-9918insTATTATATACATATATACGTATATATGT ATATATATTATATACATATATACGTATATATGTATATATAATATATACAT ATATACGTATATATGTATATA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
RIOK2_chr5_97155867_97188247	97180016	A A	ATATATAT others(92): Show ATATATATATAAAATATATATATATTATATATATATATAATATATATAAT ATATATATATAAAATATATATATATAATATATATATATAATATATATAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0057 a0008c0010t0010g0057	1	381	0.0026	99	c.67- others(112): Show c.67-824_67-823insATTATATATATTATATATATATATTATATATA TATATTTTATATATATATATTATATATATTATATATATATATAATATATA TATATTTTATATATATA		RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9						chr5	TogoVar
RIPK2_chr8_89752816_89796064	89753679	G G	GATATTTT others(92): Show GATATTTTATATATATTTATATTTTATATATATATTTTATATATATTTTA TATATATATTTTATATATATTTATATTTTATATATATTTATATTTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03540.hp2 HG06807.hp2 HG02055.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0118 a0001c0001t0002g0045 a0001c0001t0002g0118	3	295	0.0102	99	c.-43 others(110): Show c.-4382_-4381insATATTTTATATATATTTATATTTTATATATATAT TTTATATATATTTTATATATATATTTTATATATATTTATATTTTATATAT ATTTATATTTTATAT		RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding					4136		chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(92): Show AATATATATATTTAAATATACATAAAATATATATATATTTATATATATAT TTTTATATATATATATTTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	6	0.1667	99	c.182 others(116): Show c.182-2703_182-2702insTATACATAAAATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATTTATATATATATTTAAA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF213_chr17_80255852_80403794	80313923	G G	GTACTGGA others(92): Show GTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19086.hp1 NA18954.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0022 a0001c0003t0001 a0001c0004t0022	a0001c0003t0001g0109 a0001c0004t0022g0106 a0001c0003t0001g0109 a0001c0004t0022g0106	2	282	0.0071	99	c.281 others(116): Show c.2811+757_2811+758insACTGGAGGTGATGGTGGTGGTGAAGGTG ATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGTAGGTGATGGTGGAGGT GATGGTGGTGGTGAAGGTGAT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314854	T T	TGGAGGTA others(92): Show TGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTG GAGGTGATGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0069 a0069	a0069c0103 a0069c0103	a0069c0103t0029 a0069c0103t0029	a0069c0103t0029g0018 a0069c0103t0029g0018	1	255	0.0039	99	c.281 others(118): Show c.2811+1689_2811+1690insAGGTAATGGAGGTGATGGTGGTGGTG AAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGAC AGTGGTGATGCTGGTGGTGGAGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88947858	G G	GCCAGCCG others(92): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCTCTGCCCGG CCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG00621.hp2 HG02895.hp2 HG02897.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0003g0209 a0001c0001t0005g0003 others(1): Show a0001c0001t0001g0121 a0001c0001t0003g0209 a0001c0001t0005g0003 a0001c0001t0005g0004	4	6	0.6667	99	c.65- others(114): Show c.65-6679_65-6678insGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGCTGACTCCCCCACCTCCC TCCCGGACGGGGCGGCTGG		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15						chr6	TogoVar

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