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
IFNAR1_chr21_33319970_33364864	33322237	T T	TATATATG others(381): Show TATATATGGAATATATATCTGGAATATCTATATATGGAATATATATCTGG AATATCTATATATGGAATATATATCTGGAATATATATATGGAATATATAT CTGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0132 a0003c0003t0030g0132	1	275	0.0036	388	c.-28 others(399): Show c.-2819_-2818insATATATGGAATATATATCTGGAATATCTATATAT GGAATATATATCTGGAATATCTATATATGGAATATATATCTGGAATATAT ATATGGAATATATATCTGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2732		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323291	T T	TGTATATA others(381): Show TGTATATATATGGAATATATAGATGGAATGTATATATATGGAATGTATAG ATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGGAAT GTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTATATATA TGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAATGTA TATATGGAATGTATAGATGGAATGTATATATGGAATGTATAGATGGAATG TATATATGGAATGTATAGATGGAATGTATATATGGAATGTATAGATGGAA TGTATATATGGAATGTATATATATATGGAATATATATATGGAATGTATAT ATATATGGAATATATATATGGAATATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	309	0.0032	388	c.-17 others(399): Show c.-1765_-1764insGTATATATATGGAATATATAGATGGAATGTATAT ATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGATGGAAT GTATATATATGGAATGTATAGATGGAATGTATATATATGGAATGTATAGA TGGAATGTATATATATGGAATGTATAGATGGAATGTATATATATGGAATG TATAGATGGAATGTATATATGGAATGTATAGATGGAATGTATATATGGAA TGTATAGATGGAATGTATATATGGAATGTATAGATGGAATGTATATATGG AATGTATAGATGGAATGTATATATGGAATGTATATATATATGGAATATAT ATATGGAATGTATATATATATGGAATATATATATGGAATATATATATATA TGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1678		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352814	T T	TAATATAT others(381): Show TAATATATTTTATATATTATATATTATATATAATATAATATGTATTCTAT ATATTATATTATATAAAATATAGTATATAATATATAATATAATATATAAT ATATAATACAATATATAATATAATATATAATATAAAATATATAATATAAT ATATAATATATAATATAATATATAATGTATAATATATAATATAATATATA ATATATAATATATAATGTATAATAACATTATATATTATATATTATACATA TATTATATGTAATATATAATATATAATATATAATATATATTATGTATAAT ATATATTATATTATATATAATATATAATATATATAATATATAATATATTA TATATAATATATAATATATAATATTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	225	0.0044	388	c.-36 others(399): Show c.-3615_-3614insAATATATTTTATATATTATATATTATATATAATA TAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATATATAATATATAATGTATAATAACATTATATAT TATATATTATACATATATTATATGTAATATATAATATATAATATATAATA TATATTATGTATAATATATATTATATTATATATAATATATAATATATATA ATATATAATATATTATATATAATATATAATATATAATATTATATATAATA TATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2981		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406255	T T	TTGTCACT others(381): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTGG ACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0124 a0001c0001t0082g0124	1	269	0.0037	388	c.57 others(397): Show c.578_*579insCACACTGAAGGCCTGAGGAAGACTAGATGTCACAGA GGTCCACTCAGTGACACACACACATTGAAGGCCTGAGGAAGACGAGATGT CACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACG AGATGTCACAGAGGTCCACTCAGTGACACACACACACTGAAGGCCTGAGG AAGACTAGATGTCACAGAGGTCCACTCAGTGACACACACACATTGAAGGC CTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACT GAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACA CACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGA CA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	578		chr2	TogoVar
KIF25_chr6_167992671_168050091	167997508	G G	GGGGGCGG others(381): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	347	0.0029	388	c.-19 others(399): Show c.-1961_-1960insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		162		chr6	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(381): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02300.hp2 HG00438.hp1 HG02300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0004 a0004c0011t0009 a0001c0001t0004 a0004c0011t0009	a0001c0001t0004g0188 a0004c0011t0009g0225 a0001c0001t0004g0188 a0004c0011t0009g0225	2	220	0.0091	388	c.368 others(405): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCA GTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(381): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	219	0.0046	388	c.368 others(405): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCC CGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCA GTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(381): Show CCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0127 a0001c0001t0013g0127	1	215	0.0047	388	c.129 others(405): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACAATTAC ACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248742783	G G	GTTATGCT others(381): Show GTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGTTATGCTCTGGTG GGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGCC GGGTAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTTATGCTC TGGTGGGGATGTTGGCAGCCGGGGGAGGTTATGCTCTGGTGGGGATGTTG GCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCAGGGAGATT ATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGA TGTTGGCAGCGGGGGAGGTTATGCTCTGGTGGGGATGTTGGCAGCCGGGG GAGGTTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18985.hp1 NA18998.hp1 others(1): Show NA18944.hp2 NA18985.hp1 NA18998.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0134 a0001c0001t0001g0003 a0001c0001t0001g0134	4	367	0.0109	388	c.475 others(405): Show c.475+2358_475+2359insTCTCCCCCGCTGCCAACATCCCCACCAG AGCATAACCTCCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCCC CGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAACATCCC CACCAGAGCATAATCTCCCTGGCTGCCAACATCCCCACCAGAGCATAATC TCCCCCGCTGCCAACATCCCCACCAGAGCATAACCTCCCCCGGCTGCCAA CATCCCCACCAGAGCATAACCTCCCCCGCTGCCAACATCCCCACCAGAGC GTAATCTACCCGGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCT GCCAACATCCCCACCAGAGCATAACCTCCCCCGGCTGCCAACATCCCCAC CAGAGCATAA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(381): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGAAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGG GAGAGGGGAGGGGAGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGGGAGAG GAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGA GGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	16	0.0625	388	c.313 others(409): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCC TCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTT CCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCC TCTACCCTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCG TCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(381): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATAGATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	159	0.0063	388	c.343 others(405): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATATGAATCTATATATGAAT CTATATATGAATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAATATATATATGAATCTATATATGAATATATATATATGAATATATAT ATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATATA others(381): Show CATATATACATATATGTATATATAGATATATATACATATATACATATGTA TATACCTATATACATATATAGATATATACATATGTATATATGTATATACA TATATGTATCTATAGATATATACATATATGTATCTATAGATATATACATA TATGTATCTATAGATATATACATATATGTATCTATAGATATATACATATA TGTATCTATAGATATATACATATATGTATCTATAGATATATACATATATG TATCTATCGATAGATACATATATGTATCTATCGATATATACATATATGTA TCTATCGATAGATACATATATGTATATATAGATAGATACATATATGTATC TATCGATAGATACATATATGTATATATAGATATATACAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0004 a0009c0007t0004	a0009c0007t0004g0043 a0009c0007t0004g0043	1	249	0.0040	388	c.77+ others(403): Show c.77+9306_77+9307insATGTATATATCTATATATACATATATGTAT CTATCGATAGATACATATATGTATCTATCTATATATACATATATGTATCT ATCGATAGATACATATATGTATATATCGATAGATACATATATGTATCTAT CGATAGATACATATATGTATATATCTATAGATACATATATGTATATATCT ATAGATACATATATGTATATATCTATAGATACATATATGTATATATCTAT AGATACATATATGTATATATCTATAGATACATATATGTATATATCTATAG ATACATATATGTATATACATATATACATATGTATATATCTATATATGTAT ATAGGTATATACATATGTATATATGTATATATATCTATATATACATATAT GTATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928191	T T	TATATACA others(381): Show TATATACACATATGTATATATGTATATATACACACATATGTGTATATACA CATATGTATATATGTATATATACACACATATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTGTATATA CACATATGTATATATGTATATATACACACATATGTGTATATACACATATG TATATACGTATATATACACACATATGTGTATATACACATATGTATATATA CACACATATGTATATACGTATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0058 a0001c0005t0004g0058	1	60	0.0167	388	c.409 others(405): Show c.409+6887_409+6888insGTGTGTATATATACATATATACGTATAT ACATATGTGTGTATATATACATATGTGTATATACACATATGTGTGTATAT ATACGTATATACATATGTGTATATACACATATGTGTGTATATATACATAT ATACATATGTGTATATACACATATGTGTGTATATATACATATATACATAT GTGTATATACACATATGTGTGTATATATACATATATACATATGTGTATAT ACACATATGTGTGTATATATACATATGTGTATATACACATATGTGTGTAT ATATACATATATACATATGTGTATATACACATATGTGTGTATATATACAT ATATACATATGTGTATATACACATATGTGTGTATATATACATATATACAT ATGTGTATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(381): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGAACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	282	0.0035	388	c.-13 others(399): Show c.-1347_-1346insCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGAACCTCCGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(381): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGGCTAGC CTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	11	0.0909	388	c.26 others(399): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGG GGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTC TGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGC TAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCA CCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NXN_chr17_794310_984776	841407	C C	CCCCTGAC others(381): Show CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC GCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAG GTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	234	0.0043	388	c.361 others(407): Show c.361-15330_361-15329insTGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGA CCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCG CCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952302	T T	TGGGGGGG others(381): Show TGGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	212	0.0047	388	c.360 others(407): Show c.360+27016_360+27017insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCT CTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAG TGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCC CAGCCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952558	T T	TGGGGGGG others(381): Show TGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	203	0.0049	388	c.360 others(407): Show c.360+26760_360+26761insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGT GGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACC CCAGCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952570	A A	AGTCAGAC others(381): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGA GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTCGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	193	0.0052	388	c.360 others(407): Show c.360+26748_360+26749insCCGAGCCCCCCCCACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTCTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAG TGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCC CAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(381): Show GTATATACATATATACATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATATACACACACATGTATATACATATAT ACATATATATATACACACATGTATATACATATATACATATATATACACAC ATGTATATACATATATACATATATATACACACATGTATATACATATATAC ATATATATACACACACATGTATATACATATATACATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0188 a0001c0001t0114g0188	1	57	0.0175	388	c.116 others(407): Show c.1164+8203_1164+8204insTATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATATACACACACATGTATATA CATATATACATATATATATACACACATGTATATACATATATACATATATA TACACACATGTATATACATATATACATATATATACACACATGTATATACA TATATACATATATATACACACACATGTATATACATATATACATATATATA TACATATATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSGIN1_chr16_83948240_83971332	83950870	C C	CATACACA others(381): Show CATACACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACACACGCACACATGGGCACATGTGCACACATGCACATACATA CTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACACACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACACACATGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03225.hp1 HG02809.hp2 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176 a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176	3	337	0.0089	388	c.-25 others(399): Show c.-2533_-2532insATACACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACACACGCACACATGGGCACATGTGCAC ACATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2369		chr16	TogoVar
P2RX5_chr17_3668227_3701155	3686591	C C	CAGAACAG others(381): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	333	0.0030	388	c.981 others(405): Show c.981+1420_981+1421insCAGGCTGGGAGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAG CTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCC TGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGG GGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTC AGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTT CTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(381): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGCAGGGGTGGACGGGCAGAGGCGCCCCCCACTTCCCGGACGGGG TGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGA CCCCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp1 HG02280.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	4	0.5000	388	c.189 others(407): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGGGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGTCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(381): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	388	c.-26 others(399): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCTATCGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(381): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	388	c.-26 others(399): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(381): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCATCTT TTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTC CCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCC CCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0275 a0002c0003t0001g0275	1	118	0.0085	388	c.35 others(399): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCC TGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACG CCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCA CTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PLPP2_chr19_276043_296403	291596	G G	GGGAGGGG others(381): Show GGGAGGGGAGGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGG CGGGCGGGGCGGGGAGGGGAGGGCAGCAGGGAGGGGGAGGAGGGGAGGGG GGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGAGAGGGGGACGGC AGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGAGGGGAGGGAGGGGAAGGAGGAGGGGGGGAGGGGAGGGAGGAAGGCGG GGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGAGGAGGGGAG GGTTAGGGGCGGGGAGGGGAGGAGGGAGGGAGGAGGGGAGGAGGGGGCGG GGAGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	352	0.0028	388	c.-26 others(397): Show c.-261_-260insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC TCCCCGCCCCCTCCTCCCCTCCTCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCGCCTTCCTCCCTCCCCTCCCCCCCTCCTCCTTCCCCTCCCTCCCC TCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCC GCTGCCGTCCCCCTCTCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCT CCCCCCCTCCCCTCCTCCCCCTCCCTGCTGCCCTCCCCTCCCCGCCCCGC CCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCCTCCCCT CC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		194		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(381): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	113	0.0088	388	c.-27 others(397): Show c.-277_-276insTCCCTCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGC CCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCC TTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCC GCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCC CTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCC CTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(381): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03130.hp2 NA18952.hp2 others(3): Show HG02257.hp2 HG03130.hp2 NA18952.hp2 NA18967.hp1 NA19005.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0002g0083 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0002g0083 a0001c0001t0002g0173 a0001c0001t0002g0175	6	118	0.0508	388	c.-27 others(397): Show c.-277_-276insTCCCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGC CCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCC TTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCC GCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCC CTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCC CTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRKN_chr6_161342417_162732766	162010603	T T	TTATATAA others(381): Show TTATATAATATATATTATATATTATATAATATATATTATATAATATATTA TATTATATATTATATATTATATAATATATTATATTATATATAATATAATA TATTATATTATATATAATATAATATATTATATAATATATTATATATATTA ATATTATATATTATATAATATATTATATATATAATATAATATATTATATA ATATATTATATATATAATATAATATATTATATAATATATTATATATATTA ATATTATATATTATATAATATATTATATATATTAATATTATATATTATAT AATATATTATATATATTAATATTATATATTATATAATATATTATATATAT TAATATTATATATTATATAATATATTATATATATTATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	29	0.0345	388	c.619 others(407): Show c.619-37187_619-37186insGTATAATATATATAATATATTATATA ATATATAATATTAATATATATAATATATTATATAATATATAATATTAATA TATATAATATATTATATAATATATAATATTAATATATATAATATATTATA TAATATATAATATTAATATATATAATATATTATATAATATATTATATTAT ATATATAATATATTATATAATATATTATATTATATATATAATATATTATA TAATATATAATATTAATATATATAATATATTATATAATATATTATATTAT ATATAATATAATATATTATATTATATATAATATAATATATTATATAATAT ATAATATATAATATAATATATTATATAATATATATTATATAATATATAAT ATATATTATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54134108	C C	CTCCACCT others(381): Show CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	161	0.0062	388	c.26 others(399): Show c.2676_*2677insTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCT GTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2396		chr19	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(381): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGC TCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02965.hp2 NA18967.hp2 others(2): Show HG00323.hp1 HG02965.hp2 NA18967.hp2 NA18973.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021	a0001c0001t0004g0260 a0001c0001t0004g0266 a0001c0001t0004g0267 others(2): Show a0001c0001t0004g0260 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0010g0273 a0001c0001t0021g0268	5	144	0.0347	388	c.329 others(405): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGTGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCACCAGCCTT GCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(381): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA AATATATATATTTAAATATATATATTTTTAATATATATATTTAAATATAT ATATATTTATATATATATTTTTATATATATATTTATATATATATTTTTAT ATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	388	c.182 others(405): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATATTTAAAGATATATAT TAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATA ATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTT AATATATATATTTAAATATATATATATTTATATATATATTTTTATATATA TATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAAA TATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF223_chr1_1065967_1079306	1076611	G G	GGAGGCTG others(381): Show GGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	388	c.-26 others(399): Show c.-2606_-2605insGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCA CGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCGA CGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAG CCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2306		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG02630.hp1 others(4): Show HG01496.hp2 HG01928.hp1 HG02630.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0006g0185 a0001c0001t0010g0181	7	286	0.0245	388	c.-75 others(407): Show c.-758+6953_-758+6954insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	280	0.0036	388	c.-75 others(407): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678984	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01169.hp1 others(5): Show HG00642.hp1 HG01167.hp1 HG01169.hp1 HG02004.hp1 HG02602.hp2 HG02698.hp1 NA19076.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0118 a0001c0001t0001g0144 a0001c0001t0001g0151 others(5): Show a0001c0001t0001g0118 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0016g0154	8	268	0.0299	388	c.-75 others(407): Show c.-758+6845_-758+6846insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679011	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02148.hp2 HG00544.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0226 a0001c0001t0001g0189 a0001c0001t0001g0226	2	255	0.0078	388	c.-75 others(407): Show c.-758+6818_-758+6819insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01934.hp1 others(1): Show HG01261.hp2 HG01361.hp2 HG01934.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0164	4	238	0.0168	388	c.-75 others(407): Show c.-758+6791_-758+6792insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 NA20129.hp1 HG02622.hp2 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0145 a0001c0001t0006g0150 a0001c0001t0006g0121 a0001c0001t0006g0145 a0001c0001t0006g0150	3	214	0.0140	388	c.-75 others(407): Show c.-758+6764_-758+6765insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	212	0.0047	388	c.-75 others(407): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	309595	G G	GACCCCTG others(381): Show GACCCCTGCTGGGGGTCCGGGATATGGCATGTCCCCCGCCCTGCCCAGGG CTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATGGCACGTCCCCCGTC CAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCTGGGATACGGCATGTCCCC CGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATACGGCATG TCCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATG GCACGTCCCCCGTCCAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCTGGGA TACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTC CGGGATACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp1 HG01496.hp1 others(5): Show HG01070.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02155.hp2 HG02738.hp1 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009	a0001c0001t0001g0045 a0001c0001t0004g0087 a0001c0002t0001g0001 others(5): Show a0001c0001t0001g0045 a0001c0001t0004g0087 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0002g0038 a0001c0002t0003g0090 a0001c0002t0009g0126	8	55	0.1455	388	c.351 others(405): Show c.351+9824_351+9825insGCTGGCAGGAGCCCTGGACGGGGGACAT GCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGACGGGG GACATGCCGTATCCCAGACCCCCAGCAGGGGGCTGGCAGGAGCCCTGGAC GGGGGACGTGCCATATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCC TGGACGGGGGACATGCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGG AGCCCTGGACGGGGGACATGCCGTATCCCAGACCCCCAGCAGGGGGCTGG CAGGAGCCCTGGACGGGGGACGTGCCATATCCCGGACCCCCAGCAGGGGG GCTGGCAGGAGCCCTGGGCAGGGCGGGGGACATGCCATATCCCGGACCCC CAGCAGGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(381): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACAGTCGCCTCCACAGG CGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCAC CACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACAC ACAGTCGCCTCCACAGGCGACCGCGCACCACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	113	0.0088	388	c.-33 others(399): Show c.-3325_-3324insGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGA GGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(381): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0151 a0003c0004t0003g0151	1	164	0.0061	388	c.464 others(401): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGT TGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGAGGGG GTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(381): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0149 a0003c0004t0003g0149	1	164	0.0061	388	c.464 others(401): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTTGGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGT TGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGAGGGG GTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289317	T T	TCCCCCGT others(381): Show TCCCCCGTGTCTCTGCCCCGTCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCGTGTCCCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	252	0.0040	388	c.166 others(405): Show c.1663-951_1663-950insCCGTGTCTCTGCCCCGTCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	259023	C C	CCAGAGCA others(381): Show CCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTG AGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGTG AGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	190	0.0053	388	c.26 others(399): Show c.2603_*2604insCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCA GAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGC ATTACCGTGTGAGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1942		chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(381): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCCTATATATATATTC CATATATATATATTCCCTATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATTCCATATATATATATTCCATATATATATA TTTCATATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATATATTCCATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	39	0.0256	388	c.115 others(405): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGAAATATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATAGGGAAT ATATATATATGGAATATATATATAGGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(381): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACTATAGTATATATTATATAATATATATAATATAGT ATATATTATATAATATATATAATATAGTATATATTATATAATATATATAA TATAGTATATATTATATAATATATATAATATAGTATATATTATATAATAT ATAATATAGTATATATTATATAATATATACTATATTATATATAGTATATA ATACATTATATGTTATATAACATATAATGTATTATATATAATATATAATA CATTATATGTTATATAACATATAATGTATTATATATTATATGTTATATAA TATATAATACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	54	0.0185	388	c.234 others(405): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATATAATACATTATATGTTATATAAC ATATAATGTATTATATACTATATATAATATAGTATATATTATATAATATA TACTATATTATATATTATATAATATATACTATATTATATATATTATATAA TATATACTATATTATATATATTATATAATATATACTATATTATATATATT ATATAATATATACTATATTATATATATTATATAATATATACTATAGTATA TATAATATATATAGTATATAATATATAATATATATAATATATATATAGTA TATAATATAT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(381): Show GTATTATATATTATATAATATATAATATATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATGTATTATAT AATATATAATACATAATGTATTATATATTATATAATATATAATACATAAT GTATTATATATTATATAATATATAATACATTATGTATTATATATTATATA ATATATAATACATTATGTATTATATATTATATAATACATTATATAATATA TAATATATAATGTATTATATATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0103 a0001c0002t0005g0104 a0001c0002t0005g0103 a0001c0002t0005g0104	2	227	0.0088	388	c.234 others(405): Show c.234-7088_234-7087insATATTATATATTATATAATATATAATAC ATTATATATTATATATTATATAATGTATTATATAATATATAATACATAAT GTATTATATATTATATAATATATAATACATAATGTATTATATATTATATA ATATATAATACATTATGTATTATATATTATATAATATATAATACATTATG TATTATATATTATATAATACATTATATATTATATATTATATAATATATAA TACATTATATATTATATATTATATAATATATAATACATTATATATTATAT ATTATATAATATATAATACATTATATATTATATATTATATAATATATAAT ACATTATATATTATATATTATATAATATATAATATATTATATATTATATA ATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar

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