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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHG1_chr6_150594885_150848665	150706458	T T	TAGCTCAC others(283): Show TAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTC GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0063 a0005c0014t0003g0063	1	242	0.0041	290	c.-98 others(309): Show c.-98-27125_-98-27124insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTG GGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(283): Show AGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGG CGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCG GGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGC AGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGG CGGGGACGGCAGCGGCGGGCAGGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	277	0.0036	290	c.-21 others(299): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCCTGCCCGCCGCTGCCGT CCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCC CCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCG CCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCG CCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCT CCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(283): Show AGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGG CGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCG GGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGC AGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGGAGGGGAGGGGAGGAAG GCGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	277	0.0036	290	c.-21 others(299): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTTCCCCTCCCTCC CCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCG CCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCG CCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCT CCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(283): Show AGGGGAGGGGAGGAGGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGG GCGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGC GGGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGG CAGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGG AGGAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAG GCGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp2 NA18966.hp1 HG00741.hp1 HG01099.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0162 a0002c0002t0001g0002 a0002c0002t0001g0162	3	279	0.0108	290	c.-21 others(299): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGC CGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCC TCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGC CCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCCTCCTCCCCT CCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
PLPPR1_chr9_101023727_101330135	101078191	G G	GGGGAGGG others(283): Show GGGGAGGGGGAGGGGAAGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGG GGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	97	0.0103	290	c.-46 others(309): Show c.-46+49092_-46+49093insAGGGGGAGGGGAAGGGGGAAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGA GGGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGGGAGGGGGAGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
POLR3G_chr5_90469864_90519557	90492845	G G	GGCAAGAC others(283): Show GGCAAGACTCCGCCTCAAAAAAAAAAAAAAAAGTATGAGACATCAAAGTT TTTTAAAGTATTGCATTTTGGATATGTAAGTACAAGAAGAAGAATTGGAA GTAGTGATAAGCTAGATTCTACTAGAAATGCATTTATAATCTGAAATTAT TTAGATGATACACATATGAGAAAAAGAACCAGAGGAAATTATAAGTTAGA ACCTATTAAAGATGTCTTTGGAATCTGGGATCGGGACGTACAGAAGGCAT ATATTCTAGGTTTGTATGTGGCAGCCGATGCACAGAAAACT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	364	0.0027	290	c.248 others(307): Show c.248-2801_248-2800insGTATGAGACATCAAAGTTTTTTAAAGTA TTGCATTTTGGATATGTAAGTACAAGAAGAAGAATTGGAAGTAGTGATAA GCTAGATTCTACTAGAAATGCATTTATAATCTGAAATTATTTAGATGATA CACATATGAGAAAAAGAACCAGAGGAAATTATAAGTTAGAACCTATTAAA GATGTCTTTGGAATCTGGGATCGGGACGTACAGAAGGCATATATTCTAGG TTTGTATGTGGCAGCCGATGCACAGAAAACTGCAAGACTCCGCCTCAAAA AAAAAAAAAAAA	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(283): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAG GAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG03486.hp2 HG02886.hp1 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0109 a0001c0001t0006g0125 a0001c0001t0006g0104 a0001c0001t0006g0109 a0001c0001t0006g0125	3	382	0.0079	290	c.49 others(301): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGG GAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGA AACGAT	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding		4076		chr2	TogoVar
PRIMPOL_chr4_184644738_184699952	184676915	C C	CCTTCCCT others(283): Show CCTTCCCTTCTCCCTTCCCTTCCCCCTTCCCTTCCCCCTTTCTTTCCTTT CCCGTCCCCCCCCTTCCCTTTCTCCTTCCCTTCCCTTTCCTTCCCCCTTC CCTTCCCTTTCCTTCCCCCTTCCCTTCCCTTTCTTTCTCCCTTCCCTTCC CCCTTCCCTTCCCTTCCCCCTTCCCTTCCCTTCCCCCTTCCCTTCCCTTT TCCCTTCCCTTCCCCCTTTCCTACCCCATTCTTTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCCCTTCCCTTCTCCTCCCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	302	0.0033	290	c.845 others(307): Show c.845-1311_845-1310insTTCTCCCTTCCCTTCCCCCTTCCCTTCC CCCTTTCTTTCCTTTCCCGTCCCCCCCCTTCCCTTTCTCCTTCCCTTCCC TTTCCTTCCCCCTTCCCTTCCCTTTCCTTCCCCCTTCCCTTCCCTTTCTT TCTCCCTTCCCTTCCCCCTTCCCTTCCCTTCCCCCTTCCCTTCCCTTCCC CCTTCCCTTCCCTTTTCCCTTCCCTTCCCCCTTTCCTACCCCATTCTTTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCCCTTCCCTTCTCCTCCCCCTTC CCCTCTCTTCCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2106468	C C	CGGTGGGC others(283): Show CGGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGACTCTCAGCA AGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGAC TCTCAGCAAGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGC CAGGCGACTCTCAGCAAGCCCCTCTAGTGGGCGAGGACCTCCACACGTGT CGCCAGGCCAGGCGACTCTCAGCAAGCCCCTCTAGTGGGCGAGGACCTCC ACACGTGTCGCCAGGCCAGGCGACTCTCAGCAAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	248	0.0040	290	c.335 others(309): Show c.335-28794_335-28793insGGTGGGCGAGGACCTCCACACGTGTC GCCAGGCCAGGCGACTCTCAGCAAGCCCCTCTAGTGGGCGAGGACCTCCA CACGTGTCGCCAGGCCAGGCGACTCTCAGCAAGCCCCTCTAGTGGGCGAG GACCTCCACACGTGTCGCCAGGCCAGGCGACTCTCAGCAAGCCCCTCTAG TGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGACTCTCAGCAAGC CCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGACTCT CAGCAAGCCCCTCT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PROZ_chr13_113153648_113177386	113154168	C C	CGGGGCGC others(283): Show CGGGGCGCGGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGG GGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGGAGGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGGAGGCGGGGGCGCGGGGGAGGAGGGGGCGTGGGGGGGCGGGC CGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCA CGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	374	0.0027	290	c.-44 others(301): Show c.-4493_-4492insGGGGCGCGGGGGGAGGCGGGGCGCGGGGGAGGAG GGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGGCGGGGC GCGGGGGAGGCGGGGCGCGGGGGGAGGCGGGGGCGCGGGGGAGGAGGGGG CGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCG GGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGG GAGGCG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4479		chr13	TogoVar
PRRC2B_chr9_131389086_131505193	131420477	C C	CTCTCTTT others(283): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTGTTTCTTT CTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0177 a0004c0004t0012g0177	1	203	0.0049	290	c.-51 others(307): Show c.-51-9616_-51-9615insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCT TTCTTTCTTTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PWWP2B_chr10_132392200_132422859	132392521	A A	AATGGTGA others(283): Show AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGA TGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTG GTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0087 a0004c0006t0001g0087	1	353	0.0028	290	c.-47 others(301): Show c.-4706_-4705insATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATG GTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGA TAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4678		chr10	TogoVar
PXDN_chr2_1626887_1749515	1720263	G G	GAGAGGGA others(283): Show GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGA TGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATG CAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGAGATGCACAGAGAGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	281	0.0036	290	c.200 others(309): Show c.200+23992_200+23993insGCATCCCTCCCTCTCTCTGTGCATCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCC CTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCT CTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCC CTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(283): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAATAGATATATATATTATT ATATATATCTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	222	0.0045	290	c.38- others(305): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(283): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAATAGATATATATATTATT ATATATATCTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	222	0.0045	290	c.38- others(305): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TAATAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(283): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTATTAGATATATATATTATTATATATATCTATTAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAATAGATATATATATTATT ATATATATCTAATAGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	222	0.0045	290	c.38- others(305): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTAATAGATATATATAATAATATATATATC TAATAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(283): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0127 a0001c0001t0034g0127	1	185	0.0054	290	c.139 others(309): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATATGTG others(283): Show TATATGTGTATATATACGTATATACACACATATATGCGTATATATACGTA TACATACACATATATGCGTATATATACGTATATACACACATATGTGTGTA TATATACGTATATACACACATATGTGTGTATATACGTATATACACACATA TGTGTGTATACGTATATATACACACATATATGTGTATATACGGATATACA CATATATGTGTGTATATATACGTATATACACACATATGTGTGTATATATA CGTATATACACATATATGTGTGTATATCCGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0030 a0001c0001t0011 a0001c0001t0030	a0001c0001t0011g0219 a0001c0001t0030g0318 a0001c0001t0011g0219 a0001c0001t0030g0318	2	310	0.0065	290	c.468 others(307): Show c.468-4223_468-4222insGTGTATATATACGGATATACACACATAT ATGTGTATATACGTATATATACACACATATGTGTGTATATACGTATATAT ACACACATATATGTGTATATCCGTATATACACATATATGTGTGTATATAT ACGTATACACACATATGTGTGTATATACGTATATACACACATATGTGTGT ATATACGTATATATACACACATATGTGTGTATATACGTATATATACGCAT ATATGTGTATGTATACGTATATATACGCATATATGTGTGTATATACGTAT ATATACACATAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(283): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03669.hp2 HG01257.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0175 a0001c0001t0004g0177	2	315	0.0063	290	c.269 others(305): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA ATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(283): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGG GGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAG AGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	286	0.0035	290	c.36 others(301): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(283): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	173	0.0058	290	c.45- others(305): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(283): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATAAAATATATATATATAATATATATATATAAAATATATATAT ATAATATATATATAAAATATATATATATAATATATATATATATAAAATAT ATATAAAATATATATATAATATATATATAAAATATATATATAATATATAT ATAATATATATATATAATATATATATATAATATATATATAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	240	0.0042	290	c.67- others(303): Show c.67-812_67-811insTTATATATATATTATATATATATATTATATAT ATATATTATATATATATTATATATATATTTTATATATATATTATATATAT ATTTTATATATATTTTATATATATATATATTATATATATATATTTTATAT ATATATTATATATATATATTTTATATATATATATTATATATATATATTTT ATATATATATTTTATATATATATATTATATATATATATTTTATATATATA TATTATATATATATATTTTATATATATATATTATATATATATATTTTATA TATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(283): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	397	0.0025	290	c.21 others(301): Show c.2177_*2178insATATATAATCTATATAGATATATAATCTATATAG ATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RORA_chr15_60483284_61234302	60637081	T T	TAGAATAA others(283): Show TAGAATAATCTACTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0007 a0001c0003t0026g0007	1	116	0.0086	290	c.196 others(309): Show c.196+41575_196+41576insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CAGTAGATTATTCT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60700569	C C	CAAGAAAG others(283): Show CAAGAAAGAAGTCAGGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG02976.hp1 others(1): Show HG02257.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0037 a0001c0001t0054 a0001c0002t0003 others(1): Show a0001c0001t0037 a0001c0001t0054 a0001c0002t0003 a0001c0003t0014	a0001c0001t0037g0105 a0001c0001t0054g0093 a0001c0002t0003g0080 others(1): Show a0001c0001t0037g0105 a0001c0001t0054g0093 a0001c0002t0003g0080 a0001c0003t0014g0012	4	118	0.0339	290	c.167 others(309): Show c.167-21884_167-21883insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTAACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC CTGACTTCTTTCTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RTP3_chr3_46492976_46505950	46494948	T T	TGGGAGGG others(283): Show TGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCACCCCCCCCCGCCCGGCCAGCTGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCCGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	227	0.0044	290	c.-31 others(301): Show c.-3115_-3114insGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCCCGCCCGGC CAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCC CCGTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3027		chr3	TogoVar
RTP3_chr3_46492976_46505950	46494948	T T	TGGGAGGG others(283): Show TGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCCGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	227	0.0044	290	c.-31 others(301): Show c.-3115_-3114insGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGGCC AGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCC CCGTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3027		chr3	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(283): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	148	0.0068	290	c.899 others(305): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02572.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02572.hp1 HG02809.hp2 HG03041.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0032	8	84	0.0952	290	c.45 others(301): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	77	0.0130	290	c.45 others(301): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	77	0.0130	290	c.45 others(301): Show c.4567_*4568insAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGGAAGAAG GAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAGGAAGAGAA GGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAA AGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATATA others(283): Show AATATATATAATATATATTATATATTATATATAATATAATTATATAATAT TATTATATATAATATATATTATATATAATATATATTTATATAATTATATT ATATATAATATATAATATATATTATATATAATATATATTATATATTATAT ATAATATATATTATATATAATATAAATATATATTATATATTATATATAAT ATATATTATATATAATATAAATATATATTATATAATTATATTATATATAA TATATAATATATATTATATATATTATATATTATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0001 a0001c0003t0011g0001	1	159	0.0063	290	c.193 others(309): Show c.193-29556_193-29555insATTTTTATATAATATATAATATATAT AATATATATTATATATTATATATAATATAATTATATAATATATATTTATA TTATATATAATATATATTATATATAATATATAATATATATTTATATTATA TATAATATATATTATATATAATATATAATATATATTATATATAATATATA TTATATATTATATATAATATAATTATATAAATATATATTATATATAATAT ATATTATATATAATAATATTATATAATTATATTATATATAATATATAATA TATATTATATATAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669047	T T	TACCCTCC others(283): Show TACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCT CCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCC CTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0011 a0011	a0011c0046 a0011c0046	a0011c0046t0003 a0011c0046t0003	a0011c0046t0003g0003 a0011c0046t0003g0003	1	196	0.0051	290	c.249 others(309): Show c.2495+1536_2495+1537insGAGGGGAGAGGGAGGGTGAGGGGAGA TGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGG GAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGG AGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGA GAGGGAAGGTGAGGGAGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTG AGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGA GGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1142083	T T	TCATGATC others(283): Show TCATGATCAACCCTCCCTCAATGACCTCCCTCCCCACGATCAATCCTCAC TCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCAC GATCAACCCTCCCCTCAATGACCTCCCTCCTCATGATCAACCCTCACTCA GTGACCTCCCTCATGATCAACCCTCCCTCAATGACCTCCCTCCCCACGAT CAATCCTCACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGA CCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	202	0.0050	290	c.279 others(307): Show c.279+5225_279+5226insGGGAGGGAGGCCATTGAGGGGAGGGTTG ATCGTGAGGGAGGTCATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCAT TGAGTGAGGATTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCA TGAGGGAGGTCACTGAGTGAGGGTTGATCATGAGGAGGGAGGTCATTGAG GGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATCATGAGGA GGGAGGTCATTGAGTGAGGATTGATCGTGGGGAGGGAGGTCATTGAGGGA GGGTTGATCATG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(283): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCTGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0258 a0025c0041t0001g0258	1	254	0.0039	290	c.166 others(307): Show c.1662+513_1662+514insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCTGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCC others(283): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	269	0.0037	290	c.166 others(307): Show c.1662+665_1662+666insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(283): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	267	0.0037	290	c.166 others(309): Show c.1663-1103_1663-1102insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA5A_chr5_9030033_9551075	9246246	A A	AGGGATGG others(283): Show AGGGATGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0064 a0001c0007t0012g0064	1	130	0.0077	290	c.271 others(307): Show c.271-8357_271-8356insAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAATGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAGCCATCCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATAATATACAATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	282	0.0035	290	c.-15 others(301): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATTGTATATTATATATTATATAATATATAATATA CAATATATTATATAATATATAATATACAATATATTATATAATATACAATA TATTATATAATATATAATATACAATATATTATATAATATATAATATACAA TATATTATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATACAATATATTATATAATATACAATATATTATATA ATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATATTATATAATATATTGTATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATACTATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	282	0.0035	290	c.-15 others(301): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAGTATACAATATATTATATAATATATAATATA CAATATATTATATAATATACAATATATTATATAATATATAATATACAATA TATTATATAATATATAATATACAATATATTATATAATATATAATATACAA TATATTATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATACAATATATTATATAATATACAATATATTATATA ATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATATTATATAATATATTGTATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19082.hp1 NA19090.hp2 NA18983.hp1 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0002 a0001c0001t0001g0119 a0001c0001t0001g0135	3	284	0.0106	290	c.-15 others(301): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATACAATATATTATATAATATATAATATACAATA TATTATATAATATATAATATACAATATATTATATAATATATAATATACAA TATATTATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATACAATATATTATATAATATACAATATATTATATA ATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(283): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATGATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0034 a0001c0001t0013g0034	1	282	0.0035	290	c.-15 others(301): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATATAATATACAATATATTATATAATATACAATA TATCATATAATATATAATATACAATATATTATATAATATATAATATACAA TATATTATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATACAATATATTATATAATATACAATATATTATATA ATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SFTPB_chr2_85652314_85673199	85666495	G G	GTGTGTGT others(283): Show GTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTGCTGTGTGT TTGTGTCTGGCCGGCTTGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTGGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCTTGGGTGCTGTGT GTGTGTGTGTGTGTGTGTGTGTCTGGCTGGCTGGGGTGCTGTGTGTTTGT GTCTGGCCGGCTTGGGTGCTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCT GGCTGGGGTGCTGTGTGTTTGTGTCTGGCCGGCTTGGGTGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	413	0.0024	290	c.393 others(305): Show c.393+121_393+122insGCACCCAAGCCGGCCAGACACAAACACACA GCACCCCAGCCAGCCAGACACACACACACACACACACACACAGCACCCAA GCCGGCCAGACACAAACACACAGCACCCCAGCCAGCCAGACACACACACA CACACACACACACACAGCACCCAAGCCGGCCAGACACAAACACACAGCAC CCCAGCCAGCCAGACACACACACACACACACACACACAGCACCCAAGCCG GCCAGACACAAACACACAGCACCCCAGCCAGCCAGACACACACACACACA CACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SHC2_chr19_411589_466033	431248	C C	CAGAGGAG others(283): Show CAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGC GCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGA TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0076 a0001c0001t0013g0072 a0001c0001t0002g0076 a0001c0001t0013g0072	2	136	0.0147	290	c.111 others(307): Show c.1111-502_1111-501insAACTCTCACTCACGATCTCACTCACGAT GAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCA CTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCGGCCTCCTCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431544	C C	CAGATAGA others(283): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18995.hp2 NA18960.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0002 a0002c0012t0002 a0001c0003t0002 a0002c0012t0002	a0001c0003t0002g0062 a0002c0012t0002g0205 a0001c0003t0002g0062 a0002c0012t0002g0205	2	120	0.0167	290	c.111 others(307): Show c.1111-798_1111-797insATCTGCCCCGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCT CTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCT GGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(283): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATACTATATTATATATAGTATATAATACATTATA TGTTATATAACATATAATGTATTATATATTATATGTTATATAATATATAA TACATTATATGTTATATAACATATAATGTATTATATATTATATGTTATAT AATATATAATACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	55	0.0364	290	c.234 others(307): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATAACATATAATATATAATACATTAT ATGTTATATAACATATAATGTATTATATACTATATATAATATAGTATATA TTATATAATATATACTATATTATATATATTATATAATATATACTATAGTA TATATAATATATATAGTATATAATATATAATATATATAATATATATATAG TATATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	410619	C C	CGGGGGGG others(283): Show CGGGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGCCGGGG GGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCAGGGAGGGGGTTGCC CAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCAT GTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATGC AGTTGGGGTGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGG GGGGCTTTGCTTAGCTCTGACCATGTCTGGATGCAGTCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	83	0.0120	290	c.-15 others(307): Show c.-153-593_-153-592insCCCGACTGCATCCAGACATGGTCAGAGC TAAGCAAAGCCCCCCGCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCACCCCAACTGCATCCAGACATGTTCAGAGCTGGGCACCCCCCCCCG ACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGAC ATGGTCAGAGCTGGGCAACCCCCTCCCTGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCCCCCGGCTGTATCCAGACATGGTCAGAGCTGGGCACC CCCCCCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(283): Show GAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0024 a0002c0012t0024	a0002c0012t0024g0074 a0002c0012t0024g0074	1	99	0.0101	290	c.224 others(309): Show c.2241+1027_2241+1028insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATACCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATACCC GTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(283): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA20905.hp2 HG03704.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0035 a0001c0003t0001g0204 a0001c0001t0001g0035 a0001c0003t0001g0204	2	301	0.0066	290	c.148 others(309): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280309	A A	AATCTATA others(283): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATCTATATATTGTATATATTATATATT GTATATATAATCTATATATTGTATATATTATATATTGTATATATAATCTA TATATTGTATATATTATATATTGTATATATAATCTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0142 a0001c0006t0001g0142	1	24	0.0417	290	c.176 others(307): Show c.176-5268_176-5267insATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATAGATTATATATACAATATATAA TATATACAATATATAGATTATATATACAATATATAATATATACAATATAT AGATTATATATACAATATATAATATATACAATATATAGATTATATATACA ATATATAATATATACAATATATAGATTATATATACAATATATAATATATA CAATATATAGAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar

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