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
NEU4_chr2_241804193_241822413	241806728	C C	CCCCCTCA others(379): Show CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCTGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCC CTCCCTCCTCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	386	c.-25 others(397): Show c.-2550_-2549insCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCTCCCTC AACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCCTCCCTCCTCCCTCAGCCCAGGAACCTCTGCAGGC CACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC TCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCGGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCC CT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2464		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656477	T T	TCTCTGAA others(379): Show TCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCCCT TCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCC ACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGC CCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGA AACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC TCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTT CTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0099 a0001c0001t0054g0099	1	313	0.0032	386	c.-16 others(407): Show c.-163-18073_-163-18072insTCTGAAGCCCACCTCCTCCCGCAG CGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTG AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCT TTCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCT TCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCTCTGAAACCCA CCTCTTTCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCC CACCTTCTCCTCGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAG CCCACCTTCTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CTCCCCCC others(379): Show CTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0029 a0029	a0029c0050 a0029c0050	a0029c0050t0020 a0029c0050t0020	a0029c0050t0020g0285 a0029c0050t0020g0285	1	275	0.0036	386	c.56 others(397): Show c.5638_*5639insTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(379): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCC TCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	206	0.0049	386	c.433 others(403): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGG GGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	952302	T T	TGGGGGGG others(379): Show TGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGG TTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	212	0.0047	386	c.360 others(405): Show c.360+27016_360+27017insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCC AGCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(379): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACATATATCATAATATATATTATCATA TTATGACATATATCATAATATATATTATCATATTATGACATATATCATAA TATATATTATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20905.hp2 HG01361.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0027 a0002c0002t0001 a0002c0002t0027	a0002c0002t0001g0075 a0002c0002t0027g0074 a0002c0002t0001g0075 a0002c0002t0027g0074	2	59	0.0339	386	c.116 others(405): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT CATAATATATATTATCATATTATGACATATATCATAATATATATTATCAT ATTATGACATATATCATAATATATATTATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(379): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAG GTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTGACC CCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	3	0.3333	386	c.189 others(405): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCACCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCC ACCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(379): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	3	0.3333	386	c.189 others(405): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(379): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGGGTG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	3	0.3333	386	c.189 others(405): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PCDH11Y_chrY_4995296_5747224	5525199	T T	TGGGAGGA others(379): Show TGGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCA GGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGG GGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGG AGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAG GAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGG GAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0112 a0001c0001t0009g0112	1	113	0.0088	386	c.305 others(407): Show c.3052+23953_3052+23954insGGGAGGGGGAGGAGGAGGGGGAGG GGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGA GGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGG GAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGA GGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PGC_chr6_41731711_41752397	41738215	C C	CATATATA others(379): Show CATATATATGCATATATATACGTATATATATGCATATATATATGCATATA TATACGTATATATATGCATATATATATGCATATATATACGTATATATATG CATATATATATGCATATATATGTATATATATACGTATATATATGCATATA TATATGCATATATATATGCGTATATATATGCATATATATACGTATATATA TACATATATATGCATATATATATACGTATATATATGCATATATATATGCA TATATATATACATATATATATGCATATATATATGCATATATATACGTATA TATATGCATATATATGCATATATATACGTATATATATGCATATATATATG CATATATATACGTATATATATGCATATATATATGCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02896.hp2 others(2): Show HG01081.hp1 HG02257.hp2 HG02896.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0110 a0001c0001t0001g0114	5	461	0.0108	386	c.916 others(401): Show c.916-388_916-387insATGCATATATATATGCATATATATACGTAT ATATATGCATATATATATGCATATATATACGTATATATATGCATATATAT GCATATATATACGTATATATATGCATATATATATGCATATATATATGTAT ATATATATGCATATATATATGCATATATATACGTATATATATATGCATAT ATATGTATATATATACGTATATATATGCATATATATACGCATATATATAT GCATATATATATGCATATATATACGTATATATATACATATATATGCATAT ATATATGCATATATATACGTATATATATGCATATATATATGCATATATAT ACGTATATATATGCATATATATATGCATATATATACGTATATATATGCAT ATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(379): Show TATAGATTGGATATCTATATCTAGAGATATCTATAGATTGGATATCTATG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATAGATA TCTAGAGATATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTA GATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCT AGAGATATCTATAGATTGGATATCTATATCTAGAGATATCTATAGATTAG ATATCTATGATATCTAGAGATATCTATAGATTCGATATCTATGATATCTA GAGATATCTATAGATTAGATATCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0115 a0003c0003t0002g0115	1	245	0.0041	386	c.176 others(405): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAG ATATCTCTAGATATCTATCTAATCTATAGATATCTCTAGATATCATAGAC ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCCAATCTATAGATATCTCTAGATATAGATA TCCAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(379): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCACTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	190	0.0053	386	c.173 others(403): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCACTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCXD1_chrX_276381_308356	297857	G G	GTCTCCCA others(379): Show GTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGT CTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTC TACCTCATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCT ACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTA TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC CACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTC ATGGGGATTAGGATGTGGACATCTTTGGGGACATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0105 a0001c0003t0053g0105	1	172	0.0058	386	c.734 others(403): Show c.734-1237_734-1236insCCCACATGGGATTAGGACGTGGACATCT TTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTT GGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTG GGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGG GGACATTATTCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGG CCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTACCTCATGGGGATTAGGATGTGGACATCTTTGGGGAC ATTATTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRKCZ_chr1_2045411_2190395	2124135	G G	GGCTGTAG others(379): Show GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGG TCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0282 a0003c0008t0001g0282	1	257	0.0039	386	c.335 others(405): Show c.335-11126_335-11125insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133740	C C	CTCCCTCC others(379): Show CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	221	0.0045	386	c.23 others(397): Show c.2308_*2309insTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2028		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(379): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	110	0.0182	386	c.23 others(397): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
RPH3AL_chr17_207389_357807	356244	C C	CACTTACT others(379): Show CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAG TCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACA GGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGC ACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTAC TAACAGTCGTCTTCACAGGCGACCGCGCACCACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	81	0.0123	386	c.-37 others(397): Show c.-3746_-3745insAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT ATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGGTGCGCGG TCGCCTGTGAAGACGACTGTTAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAA GT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3438		chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229041	C C	CACATACG others(379): Show CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0024 a0001c0001t0002g0025	2	255	0.0078	386	c.494 others(405): Show c.494+25799_494+25800insTACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(379): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA19077.hp1 NA18964.hp2 NA18998.hp2 NA19077.hp1	a0003 a0029 a0003 a0029	a0003c0004 a0029c0040 a0003c0004 a0029c0040	a0003c0004t0003 a0029c0040t0012 a0003c0004t0003 a0029c0040t0012	a0003c0004t0003g0135 a0003c0004t0003g0153 a0029c0040t0012g0132 a0003c0004t0003g0135 a0003c0004t0003g0153 a0029c0040t0012g0132	3	166	0.0181	386	c.464 others(399): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGAGTGAGGGGGT TGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(379): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0071 a0007c0006t0001g0071	1	247	0.0040	386	c.166 others(403): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(379): Show GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	178	0.0056	386	c.166 others(403): Show c.1662+265_1662+266insCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(379): Show CATATATATATTCCATATATATATTCCATATATATATATTCCCTATATAT ATATTCCATATATATATATTCCCTATATATATATTCCATATATATATATT CCCTATATATATATTCCATATATATATATTCCCTATATATATATTCCATA TATATATATTCCCTATATATATATTCCCTATATATATATTCCATATATAT ATATTCCATATATATATTCCATATATATATATTCCATATATATATATTTC ATATATATATATTCCATATATATATTCCATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATATATATATATTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	39	0.0256	386	c.115 others(403): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATAGGGAATATATATAT ATGGAATATATATATAGGGAATATATATATATGGAATATATATATGGAAT ATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(379): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02630.hp1 HG02970.hp2 others(5): Show HG02040.hp2 HG02630.hp1 HG02970.hp2 HG03209.hp2 NA18942.hp2 NA18962.hp2 NA18969.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0007c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0007 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0007 a0001c0004t0004 a0007c0012t0005	a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0003t0001g0032 a0001c0003t0007g0146 a0001c0004t0004g0042 a0001c0004t0004g0043 a0007c0012t0005g0148	8	47	0.1702	386	c.-30 others(405): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TTACAAAA others(379): Show TTACAAAACAGAGTGCCCGTAGGATAAAGACATTACAAAACAGAGTGCCT GTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATTAC AAAACAGAGTGCCCGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAG GATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATTACAAAA CAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATA AAGACATATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACA GAGTGCCTGTAGGATAAAGACATATTACAAAACAGAGTGCCTGTAGGATA AAGACATTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	355	0.0028	386	c.331 others(403): Show c.331-2756_331-2755insGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCCTA CAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTA ATATGTCTTTATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCA CTCTGTTTTGTAATGTCTTTATCCTACGGGCACTCTGTTTTGTAATGTCT TTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCACTCT GTTTTGTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(379): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0049 a0002c0001t0049	a0002c0001t0049g0024 a0002c0001t0049g0024	1	48	0.0208	386	c.257 others(405): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCC ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50679031	G G	GTGGGGAG others(379): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTC AGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAG TGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0285 a0001c0010t0001g0286 a0001c0010t0001g0285 a0001c0010t0001g0286	2	255	0.0078	386	c.257 others(405): Show c.2578-6918_2578-6917insACCCTGACCCCTCCCCATCATCTTGA CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC TCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATG CTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	432649	C C	CGCTTCAT others(379): Show CGCTTCATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAG ATGGCGCTTCATCATGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGG GCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAGGAGG CCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAG GAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAG AGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCG TGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	207	0.0048	386	c.111 others(405): Show c.1111-1903_1111-1902insACCATCTATCTGCCCGGCCTCCTCTA TCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGC CTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATC TGCCTGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGC CATCTGCCCGGCCTCCTCTCTCACTCACGATCTCACTCACGATGAAGCGC CATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCATGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTC ACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTC ACGATGAAGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(379): Show GCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCG GCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	216	0.0046	386	c.43 others(397): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGGTGAGCGG GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(379): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	216	0.0046	386	c.43 others(397): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGGCGGGTGTGAGCGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(379): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCACTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	216	0.0046	386	c.43 others(397): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGTGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SIGIRR_chr11_400716_419999	401566	G G	GCCCCGCT others(379): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	216	0.0046	386	c.43 others(397): Show c.4329_*4330insGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4149		chr11	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(379): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATTATATAAATATAAATATATTATATATTATATAAATATAAA TATATTATATATTATATAAATATAAATATATTATATATTATATATAAATA TAAATATATTATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTAATAT ATTATATATAATATAAATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp2 NA18957.hp2 HG01256.hp2 HG01257.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0321 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0321	3	134	0.0224	386	c.-70 others(403): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAA TATATAATATATTTATATTTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTTATGTATAATATATATAATATA TTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC9A3_chr5_465456_529449	487294	A A	ACACTGAC others(379): Show ACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGACACCG TGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACA CCCACCGCACTGACACCGTGATCCCGACCGCACTGACACCCACCGCACTG ACACCGTGATCCCGACCGCACTGACACCCACCACACTGACACCCACCGCA CTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACC ACACTGACACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAG ACCGCACTGACACCCACCGCACTGACACTGTGATCCAGACCGCACTGACA CCCACCACACTGACACCCACCACACTGACACCCACCG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	203	0.0049	386	c.675 others(403): Show c.675+1021_675+1022insCGGTGGGTGTCAGTGTGGTGGGTGTCAG TGTGGTGGGTGTCAGTGCGGTCTGGATCACAGTGTCAGTGCGGTGGGTGT CAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTGCGGTGGG TGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGT GGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCGGGA TCACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAG TGCGGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGG TCTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGG TGTCAGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(379): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATATAAATATATATATTATATAATATATATATAAAATAT ATATATTATATAATATATATATAAAATATATATATTATATATTATATAAT ATATATATAAAATATATATAATATATATTATATGTAATATTATATATATT ATATATTATATATATTATATATTATATATATTATATATAATATATATTAT ATATTATATATATTATATATAATATATATTATATATTATATATATTATAT ATAATATATTATATATAATATATATAATATATTATATATAATATATATAA TATATTATATATATTATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	161	0.0062	386	c.151 others(405): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATATAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATATATAAAATA TATATATTATATATTATATAATATATATATAAAATATATATAATATATAT TATATGTAATATTATATATATTATATATTATATATATTATATATTATATA TATTATATATAATATATATTATATATTATATATATTATATATAATATATA TTATATATTATATATATTATATATAATATATTATATATAATATATATAAT ATATTATATATAATATATATAATATATTATATATATTATATATAATATAT TATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(379): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGAGGGGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGG GAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	6	0.1667	386	c.138 others(405): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCT CCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCC CCCCTCCCCCTCCCCTCCCCCCCCTCCCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCC TCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(379): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGG GGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	6	0.1667	386	c.138 others(405): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(379): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTT GCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01361.hp1 others(5): Show HG00323.hp1 HG01069.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG02300.hp2 HG03017.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0003 a0001c0001t0003g0027 others(1): Show a0001c0001t0001g0002 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0082	8	407	0.0197	386	c.67 others(397): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(379): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGAGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGG AAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAAGGGAAG GGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGAAGGGA AGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG06807.hp1 HG02723.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0180 a0001c0001t0005g0050 a0001c0001t0005g0180	3	16	0.1875	386	c.40 others(397): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCCT TCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTT CCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCT TCCCCTTCTTCCTCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(379): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGG AAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAAGGGAAG GGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGAAGGGA AGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	14	0.0714	386	c.40 others(397): Show c.4032_*4033insTTCTTTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCCT TCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTT CCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCT TCCCCTTCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(379): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGG AAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAAGGGAAG GGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGAAGGGA AGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0004 a0003c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0003t0003 a0001c0008t0001 a0002c0004t0001 a0003c0005t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0004g0021 a0001c0001t0004g0087 a0001c0001t0004g0097 a0001c0001t0005g0179 a0001c0001t0006g0102 a0001c0001t0008g0130 a0001c0001t0009g0103 a0001c0001t0010g0098 a0001c0003t0003g0018 a0001c0003t0003g0038 a0001c0003t0003g0062 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0008t0001g0108 a0002c0004t0001g0036 a0002c0004t0001g0090 a0003c0005t0001g0042 a0006c0009t0001g0124	246	259	0.9498	386	c.40 others(397): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCCT TCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTT CCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCT TCCCCTTCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(379): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGC TTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCC CCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02109.hp1 others(13): Show HG01109.hp1 HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0031 a0001c0001t0051 a0002c0003t0003	a0001c0001t0003g0004 a0001c0001t0005g0020 a0001c0001t0005g0250 others(4): Show a0001c0001t0003g0004 a0001c0001t0005g0020 a0001c0001t0005g0250 a0001c0001t0019g0051 a0001c0001t0031g0056 a0001c0001t0051g0266 a0002c0003t0003g0255	16	56	0.2857	386	c.483 others(399): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGC TAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGA GCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGG GGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCA GGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGC GGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(379): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	9	0.1111	386	c.75 others(397): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(379): Show GATTATAAAATATAATCATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	9	0.1111	386	c.75 others(397): Show c.7501_*7502insATTATAAAATATAATCATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(379): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG03209.hp2 HG01891.hp1 HG02572.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100	3	11	0.2727	386	c.75 others(397): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(379): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0034 a0001c0002t0026g0034	1	9	0.1111	386	c.75 others(397): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(379): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACACGTGT GTGTATATATACACGTGTATATATATACACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	87	0.0115	386	c.271 others(403): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTGTA TATATATACACGTGTATATATACACACACGTGTATATATATACACGTGTA TATATACACACACGTGTATATATATACACGTGTATATATACACACACGTA TATATATACACGTGTATATATACACACACGTATATATATACACGTGTATA TATACACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACGTATATATATACACGTATATATACACACACACGTATATATATACACG TATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(379): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATATACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACCTATGTGTATATATAACACATATATA CACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02148.hp2 HG02293.hp1 others(2): Show HG00741.hp2 HG02148.hp2 HG02293.hp1 NA19000.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0059	a0001c0001t0002g0122 a0001c0001t0003g0121 a0001c0001t0006g0089 others(2): Show a0001c0001t0002g0122 a0001c0001t0003g0121 a0001c0001t0006g0089 a0001c0001t0006g0208 a0001c0001t0059g0063	5	224	0.0223	386	c.158 others(405): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACCTATGT GTATATATAACACATATATACACCTATGTGTATATATAACACATATATAC ACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATACATATATACATATACACATATGTGT ATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(379): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATATACATAT ATACATATACACATATGTGTATATACATATATACATATACACCTATGTGT ATATATACATATATACATATACACCTATGTGTATATATAACACATATATA CACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	220	0.0045	386	c.158 others(405): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATACATAT ATACATATACACCTATGTGTATATATACATATATACATATACACCTATGT GTATATATAACACATATATACACCTATGTGTATATATAACACATATATAC ACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATACATATATACATATACACATATGTGT ATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(379): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAG AGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0183 a0001c0002t0013g0183	1	108	0.0093	386	c.-18 others(405): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCT CTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCC CCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCC CTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCT CCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTC TCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar

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