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
MSLN_chr16_755734_773862	767880	G G	GGGGGGGG others(275): Show GGGGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGTGT GGGGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGGGGGGCGT GGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCATGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0233 a0002c0003t0004g0233	1	388	0.0026	282	c.159 others(299): Show c.1596+411_1596+412insGGGGGGCGCGTGGAGGGGGGCGCGTGGG GGGGGCGCATGGGGGGGTGTGGGGGGGGGCGCGTGGAGGGGGCGCGTGGA GGGGGCGCGTGGGGGGGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTG GGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGG AGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCA TGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGG CGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769224	G G	GCCCCACC others(275): Show GCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGC CCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCACCCCCGGCCCCGGCCC CACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCG GCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAGCCCCGGCCCCACC CCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCC CACCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0256 a0002c0014t0003g0256	1	388	0.0026	282	c.49 others(291): Show c.491_*492insCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCACCC CCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCC GGCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAG CCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCC CCGGCCCCGGCCCCACCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		363		chr16	TogoVar
MTUS1_chr8_17638802_17806094	17743045	A A	ACTTAATA others(275): Show ACTTAATAGCTATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0014 a0014	a0014c0061 a0014c0061	a0014c0061t0001 a0014c0061t0001	a0014c0061t0001g0007 a0014c0061t0001g0007	1	330	0.0030	282	c.228 others(299): Show c.2287+558_2287+559insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAATAGCTAT TAAG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	3/14			chr8	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(275): Show CATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTGTATATA CACATATGTATATATGTATATATACATATGTGTATATACACATATGTATA TATGTATATATACACACATATGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	64	0.0156	282	c.409 others(299): Show c.409+6947_409+6948insATACGTATATACATATGTGTGTATATAT ACATATATACATATGTGTATATACACATATGTATATATACATATATACAT ATGTGTATATACACATATGTGTGTATATATACATATATACATATGTGTAT ATACACATATGTGTGTATATATACATATATACATATGTGTATATACACAT ATGTGTGTATATATACATATATACATATGTGTATATACACATATGTGTGT ATATATACATATATACATATGTGTATATACACATATGTGTGTATATATAC ATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(275): Show TTCTAGTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	346	0.0029	282	c.373 others(299): Show c.373-3792_373-3791insCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTCTAGTT CTCT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(275): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	346	0.0029	282	c.373 others(299): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTCTAGTTC TCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(275): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0282 a0001c0004t0004g0282	1	322	0.0031	282	c.46 others(293): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(275): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	356	0.0028	282	c.91+ others(295): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(275): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTAAAA AGTACTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGAATACT TTTAAAAAAGAATACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTA AAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGA ATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTT TTAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	170	0.0059	282	c.175 others(303): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTA TTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(275): Show AAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	208	0.0048	282	c.-10 others(303): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTTT TTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRXN3_chr14_78165373_79873291	79257430	G G	GTGGTGGT others(275): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0016	1	24	0.0417	282	c.326 others(305): Show c.3263-209778_3263-209777insGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGGT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(275): Show TCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0117 a0001c0002t0012g0117	1	326	0.0031	282	c.433 others(299): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
ODAD3_chr19_11415605_11440121	11425657	A A	ATGCATAC others(275): Show ATGCATACATGCATATACGTATATATGCATACATGCATATACGTATATAT GCATACATGCATATACGTATATATGCATACATGCATATACGTATATATGC ATACATGCATATACGTATATATGCATACATGCATATACGTATATATGCAT ACATGCATATACGTATATATGCATACATGCATATACGTATATATGCATAC ATGCATATACGTATATATGCATACATGCATATACGTATATATGCATACAT GCATATACGTATATATGCATACATGCATATACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0366 a0002c0002t0001g0366	1	398	0.0025	282	c.963 others(297): Show c.963+486_963+487insCGTATATGCATGTATGCATATATACGTATA TGCATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATG CATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCA TGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATG TATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATGTA TGCATATATACGTATATGCATGTATGCATATATACGTATATGCATGTATG CA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(275): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATATATAAATATAGATATATCTATATTTATATAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0251 a0001c0002t0003g0251	1	418	0.0024	282	c.553 others(297): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATATATAAATATAGATATATCTATATTTATAT ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATTTATAAATATAGATATATCTATATTTACATATATATATATAAAT ATAGATATATCTATATATATATTTATAAATATAGATATATCTATATTTAT AT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(275): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAAAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03017.hp2 HG01515.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0231 a0001c0002t0003g0250 a0001c0002t0003g0231 a0001c0002t0003g0250	2	418	0.0048	282	c.553 others(297): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAA ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATTTATAAATATAGATATATCTATATTTACATATATATATATAAAT ATAGATATATCTATATATATATTTATAAATATAGATATATCTATATTTAT AT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(275): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(42): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp2 HG01168.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG03239.hp1 HG03491.hp1 HG03834.hp2 NA18906.hp2 NA18943.hp1 NA18953.hp1 NA18956.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA19005.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19065.hp2 NA19070.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0010	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0003c0004t0003 a0003c0010t0002	a0001c0001t0002g0004 a0001c0001t0002g0058 a0001c0001t0002g0060 others(38): Show a0001c0001t0002g0004 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0304 a0001c0001t0002g0326 a0001c0001t0002g0332 a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0002t0002g0076 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0361 a0001c0002t0003g0002 a0001c0002t0003g0008 a0001c0002t0003g0229 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0265 a0002c0003t0002g0212 a0003c0004t0003g0002 a0003c0004t0003g0009 a0003c0004t0003g0224 a0003c0004t0003g0246 a0003c0004t0003g0259 a0003c0004t0003g0263 a0003c0010t0002g0074	45	418	0.1077	282	c.553 others(297): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATTTATAAATATAGATATATCTATATTTACATATATATATATAAAT ATAGATATATCTATATATATATTTATAAATATAGATATATCTATATTTAT AT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(275): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19240.hp1 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0302 a0001c0001t0001g0104 a0001c0001t0002g0302	2	418	0.0048	282	c.553 others(297): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAT ATATATTTATAAATATAGATATATCTATATTTACATATATATATATAAAT ATAGATATATCTATATATATATTTATAAATATAGATATATCTATATTTAT AT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(275): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCGGGACCCCCAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	362	0.0028	282	c.981 others(299): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGTCCCGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TCAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCG CTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGG GACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(275): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	292	0.0034	282	c.471 others(297): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGAT ACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(275): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCCCCTCCCCTCCC CCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0002 a0006c0021t0002	a0006c0021t0002g0003 a0006c0021t0002g0003	1	336	0.0030	282	c.-37 others(293): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGG GGAGGGGAGGGGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGAT GAGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGGAGGG GAGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(275): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0230 a0001c0009t0002g0230	1	336	0.0030	282	c.-37 others(293): Show c.-3700_-3699insGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGAT GAGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGGAGGG GAGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE7B_chr6_135846701_136200574	136045901	T T	TAGAATTT others(275): Show TAGAATTTGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	142	0.0070	282	c.83- others(299): Show c.83-62823_83-62822insGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA ATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59674397	T T	TCCTTCTC others(275): Show TCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTT CCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCC CCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCCTGTTCCTTC CCCTTCTCCTGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTT CCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCT CCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	250	0.0040	282	c.119 others(301): Show c.119-68646_119-68645insCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTTCCTCCTTCTCC TGTTCCTTCCCCTTCTCCTGTTCCCCCTTCTCCTGTTCCTTCCCCTTCTC CTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTTCCTCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCC TGTTCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTTCCTTCCCCTTCTC CTGTCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIK3R1_chr5_68210756_68306821	68263008	T T	TATACATG others(275): Show TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACATG TGTACATGTAGATACATGTAGATACATGTAGATACATGTAGATACATGTA TACATGTAGATACATGTAGATACATGTATACATGTAGATACATGTAGATA CATGTAGATACATGTATACATGTAGATACATGTAGATACATGTAGATACA TGTAGATACATGTAGATACATGTATACATGTAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0127 a0001c0002t0127	a0001c0002t0127g0241 a0001c0002t0127g0241	1	308	0.0033	282	c.335 others(301): Show c.335-10370_335-10369insGCATGTAGATACATGTGTACATATAT ACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCAT GTAGATACATGTGTACATGTAGATACATGTAGATACATGTAGATACATGT AGATACATGTATACATGTAGATACATGTAGATACATGTATACATGTAGAT ACATGTAGATACATGTAGATACATGTATACATGTAGATACATGTAGATAC ATGTAGATACATGTAGATACATGTAGATACATGTATACATGTAGATACAT GTAGAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(275): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGCCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp1 HG02809.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0002 a0001c0006t0001 a0002c0002t0002	a0001c0006t0001g0178 a0002c0002t0002g0159 a0001c0006t0001g0178 a0002c0002t0002g0159	2	352	0.0057	282	c.472 others(301): Show c.472-16043_472-16042insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGGCGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCACACCACAGT TTCTTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PLCXD1_chrX_276381_308356	280784	C C	CCGTGCAG others(275): Show CCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGG GGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGG AGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0052 a0001c0001t0071g0052	1	176	0.0057	282	c.-92 others(291): Show c.-922_-921insCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGG AAGACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGG GAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGCAGAGGGGAAGACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		596		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(275): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	282	c.-50 others(293): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATTATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATATTATATATAATATATTATATATAATATAATATATATAAAT ATATTTTTATATATAATAATTATATTATATATAATATATTTTTATATAAA TATATATTATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(275): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATAATATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	282	c.-50 others(293): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATATTATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAAAT ATATTTTTATATATAATAATTATATTATATATAATATATTTTTATATAAA TATATATTATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(275): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATAATATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG02165.hp2 others(9): Show HG00558.hp2 HG00733.hp1 HG02165.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG04199.hp1 HG04204.hp1 NA18994.hp1 NA19062.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	12	286	0.0420	282	c.-50 others(293): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAAAT ATATTTTTATATATAATAATTATATTATATATAATATATTTTTATATAAA TATATATTATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA8_chr7_108465417_108531135	108490212	A A	AGGCTATA others(275): Show AGGCTATACCATTTAGCCTACATGTGTAGTAGGCTATACCATCTAAGTAT GTCTAAGTACACTCTATAACACAGGTTTATAGCCTAGGAACTATAGGCTA TACCATTTAGCCTACATGTGTAGTAGGCTATACCATCTAAGTATGTCTAA GTACACTCTATAACACAGGTTTATAGCCTAGGAACTATAGGCTATACCAT TTAGCCTACATGTGTAGTAGGCTATACCATCTAAGTATGTCTAAGTACAC TCTATAACACAGGTTTATAGCCTAGGAACTATG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02683.hp1 HG01981.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0093 a0001c0001t0003g0094	2	390	0.0051	282	c.168 others(301): Show c.1683+1197_1683+1198insCATAGTTCCTAGGCTATAAACCTGTG TTATAGAGTGTACTTAGACATACTTAGATGGTATAGCCTACTACACATGT AGGCTAAATGGTATAGCCTATAGTTCCTAGGCTATAAACCTGTGTTATAG AGTGTACTTAGACATACTTAGATGGTATAGCCTACTACACATGTAGGCTA AATGGTATAGCCTATAGTTCCTAGGCTATAAACCTGTGTTATAGAGTGTA CTTAGACATACTTAGATGGTATAGCCTACTACACATGTAGGCTAAATGGT ATAGCC	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	8/10			chr7	TogoVar
POLG_chr15_89311320_89339824	89325061	T T	TGAGTGAG others(275): Show TGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	398	0.0025	282	c.194 others(299): Show c.1949+388_1949+389insTCTCACTCACTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC ACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(275): Show AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	340	0.0029	282	c.227 others(299): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123685	G G	GGTTAGGG others(275): Show GGTTAGGGTCATGGTGGTAGTTAGCGTCACGGTGGTGGTTAGGTTCATTG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC GTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACAGCTGTAGTTAGGGT CATGGTGGTAGTTAGCGTCACGGTGGTGGTTAGGTTCATTGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACAGCTGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	286	0.0035	282	c.335 others(301): Show c.335-11567_335-11566insTGGTGGTAGTTAGCGTCACGGTGGTG GTTAGGTTCATTGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACAG CTGTAGTTAGGGTCATGGTGGTAGTTAGCGTCACGGTGGTGGTTAGGTTC ATTGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACAGCTGTAGTTA GGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124101	C C	CTGTAGTT others(275): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0117 a0001c0003t0014g0117	1	286	0.0035	282	c.335 others(301): Show c.335-11161_335-11160insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKX_chrX_3599340_3718649	3639415	A A	ATGGATGG others(275): Show ATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAG ATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATG GATGAAGGGGTGGGGTGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGG ATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGA AGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGG GTGGGGTGGTAGATGGATGAAGGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0205 a0002c0003t0008g0205	1	227	0.0044	282	c.719 others(299): Show c.719+2436_719+2437insCCCCCCCACCCCTTCATCCATCTACCAC CCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCA CCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCC TTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCACCCCACCCCT TCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCA TCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCA TCCA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(275): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	227	0.0044	282	c.23 others(293): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTCHD4_chr6_47851673_48116197	47918519	A A	AAAGAAAA others(275): Show AAAGAAAAGGTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0062 a0003c0006t0062	a0003c0006t0062g0104 a0003c0006t0062g0104	1	182	0.0055	282	c.899 others(301): Show c.899-38584_899-38583insCTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAACCT TTTCTT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTGR1_chr9_111557567_111604647	111561084	A A	AAAATATA others(275): Show AAAATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCACCA CTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAATATATATA TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCACCACTGCACTCCA GCCTGGGCAACAGAGTGAGACTCCATCTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	408	0.0025	282	c.20 others(293): Show c.2036_*2037insATTTTAGATGGAGTCTCACTCTGTTGCCCAGGCT GGAGTGCAGTGGTGCGATCTCCACTCACTGCCACCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATAT ATATATATTTTAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGT GGTGCGATCTCCACTCACTGCCACCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATTT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1482		chr9	TogoVar
PXDN_chr2_1626887_1749515	1720182	A A	AGAGGGAG others(275): Show AGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGT AGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAG GGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGG AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG AGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0303 a0001c0006t0027g0303	1	322	0.0031	282	c.200 others(301): Show c.200+24073_200+24074insCCTCCCTCTCTCTCTCTCTGCATCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTC TGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTC TCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTC TCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCC TCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(275): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTCCTGCACT CCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGC ACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02895.hp2 others(3): Show HG01891.hp2 HG02055.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0015 a0001c0001t0024 a0001c0001t0041 others(3): Show a0001c0001t0015 a0001c0001t0024 a0001c0001t0041 a0001c0001t0056 a0001c0001t0060 a0004c0016t0015	a0001c0001t0015g0122 a0001c0001t0024g0185 a0001c0001t0041g0126 others(3): Show a0001c0001t0015g0122 a0001c0001t0024g0185 a0001c0001t0041g0126 a0001c0001t0056g0124 a0001c0001t0060g0108 a0004c0016t0015g0184	6	295	0.0203	282	c.139 others(301): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTG TACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTT GCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCAC CTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(275): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0179 a0001c0001t0053g0179	1	354	0.0028	282	c.269 others(297): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGCAAT TG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RASA3_chr13_113972783_114137623	114044433	C C	CCGCCTCA others(275): Show CCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCTCCCCCCC CGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCC GCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCC CCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGA GCTCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	67	0.0149	282	c.278 others(299): Show c.278-3340_278-3339insAGCTCAGCGAGTGAGGCGGGGCGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGG GGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGC GGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAG GCGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTG AGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGA GGCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(275): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCT CCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCT TCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	354	0.0028	282	c.365 others(297): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(275): Show CATGGTGACTGCCGGACACTCAGCCCAGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCTTCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	180	0.0056	282	c.-35 others(303): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCTGGGCTGAGTGTCCGGCA GTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(275): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCAGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCTTCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0053 a0001c0004t0007g0053	1	180	0.0056	282	c.-35 others(303): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAG TGTCTGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCA GTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(275): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCTTCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	180	0.0056	282	c.-35 others(303): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCA GTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	A A	ATGACGGG others(275): Show ATGACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGC TGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGG ATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATT TAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0039 a0001c0006t0001g0039	1	180	0.0056	282	c.-35 others(303): Show c.-351-12866_-351-12865insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAAT CCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCA GCCCGTCA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	A A	ATGACGGG others(275): Show ATGACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGC TGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGG ATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATT TAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	180	0.0056	282	c.-35 others(303): Show c.-351-12866_-351-12865insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAAT CCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCA GCCCGTCA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641372	C C	CGGGCTGG others(275): Show CGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGG GCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCT GGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGA TTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTT AGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG ATGGTGACTGCCGGACACTCGGCCCGGCATCAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	180	0.0056	282	c.-35 others(303): Show c.-351-12917_-351-12916insATGATGCCGGGCCGAGTGTCCGGC AGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGT CACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCAC CATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCAT CCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCT AAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAA TCCAGCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(275): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA18967.hp2 HG01978.hp1 NA18967.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0020 a0001c0001 a0021c0020	a0001c0001t0001 a0021c0020t0001 a0001c0001t0001 a0021c0020t0001	a0001c0001t0001g0239 a0021c0020t0001g0223 a0001c0001t0001g0239 a0021c0020t0001g0223	2	426	0.0047	282	c.21 others(293): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar

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