Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(383): Show CTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTC TCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCC CCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTC GCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCCC CTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCTCTCCCCTCTCCCCTT CCCTCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0002 a0022c0023t0002	a0022c0023t0002g0013 a0022c0023t0002g0013	1	46	0.0217	390	c.-25 others(409): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTTCCCTCCCCTCTC CCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTC TTCCCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCTCTCCCCTCTCCCCTTCCCTCCGTCCCCTCTCCCCTTCCCTCCCC TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CCCCCTCCCCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278658	C C	CCTCCTCC others(383): Show CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCT TCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTG CTCCCCTTCCTCCTCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCAC TCTTTCTCCCTCCTCCCCTCCTCTCCTCCTCTCCCCTCCTCTCCTCCTCC CTCCTCTCTCTCCTCCTCCTCTCCTCCTCCTCTCCTCCTCCTCCCCTTCC TCTCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTTCCTCCTC CTCCCCTTCTCTTCCTCTCCTCCTCCCCCTTCTCTTCCCTCCTCCTCCCC TTCTCTCCTCCTCCTCCCTTCCTCCTCTCTCTTCTCTTTCT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	369	0.0027	390	c.425 others(407): Show c.425-8136_425-8135insCCCTCCTCTCCTCCTCCTCTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCC CCTCCTCTCCTGCTCCCCTTCCTCCTCTCCCCTTCCTCCTCCTCCCCTTC CTCCTCCTCCACTCTTTCTCCCTCCTCCCCTCCTCTCCTCCTCTCCCCTC CTCTCCTCCTCCCTCCTCTCTCTCCTCCTCCTCTCCTCCTCCTCTCCTCC TCCTCCCCTTCCTCTCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTC TCTTTCCTCCTCCTCCCCTTCTCTTCCTCTCCTCCTCCCCCTTCTCTTCC CTCCTCCTCCCCTTCTCTCCTCCTCCTCCCTTCCTCCTCTCTCTTCTCTT TCTCTCCTCCTC		TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
TNK2_chr3_195858364_195913551	195864959	A A	ATGCAAAT others(383): Show ATGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGA GTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACA GACAGGTGACACGGAGTGCCTGCGTCCCAGGTGCAAATCAGTAAGAACCA CCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCA AATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCC TGCGTCCCAGATGCAAATCAGTAAGAACCACCTGAGACAGTGACAGACAG GTGACAGCGAGTGCCTGCGTCCCAGGTGCAAATCAGTAAGAACCACCCGA GACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02280.hp1 others(5): Show HG01884.hp1 HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG03195.hp1 HG03471.hp2 NA20300.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0014 a0001c0037 a0001c0058 others(2): Show a0001c0014 a0001c0037 a0001c0058 a0002c0057 a0018c0035	a0001c0014t0004 a0001c0037t0004 a0001c0058t0004 others(2): Show a0001c0014t0004 a0001c0037t0004 a0001c0058t0004 a0002c0057t0004 a0018c0035t0004	a0001c0014t0004g0007 a0001c0014t0004g0097 a0001c0014t0004g0111 others(4): Show a0001c0014t0004g0007 a0001c0014t0004g0097 a0001c0014t0004g0111 a0001c0037t0004g0112 a0001c0058t0004g0233 a0002c0057t0004g0232 a0018c0035t0004g0229	8	370	0.0216	390	c.316 others(407): Show c.3162-773_3162-772insCCCGGGACGCAGGCACTCGCTGTCACCT GTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGG CACTCGCTGTCACCTGTCTGTCACTGTCTCAGGTGGTTCTTACTGATTTG CATCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTG GTTCTTACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGTCTG TCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGGCACTC CGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCC GGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCT TACTGATTTGCA		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15						chr3	TogoVar
TNK2_chr3_195858364_195913551	195865087	A A	AGGTGCAA others(383): Show AGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGC GAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCACCCGAGACAGTGA CAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAAC CACCTGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGGTG CAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTG CCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGAC AGGTGACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCC GAGACAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02683.hp1 HG01358.hp2 HG02683.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0015 a0001c0006 a0003c0015	a0001c0006t0001 a0003c0015t0001 a0001c0006t0001 a0003c0015t0001	a0001c0006t0001g0077 a0003c0015t0001g0087 a0001c0006t0001g0077 a0003c0015t0001g0087	2	370	0.0054	390	c.316 others(407): Show c.3162-901_3162-900insCGGGACGCAGGCACTCCGTGTCACCTGT CTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGGCA CTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCA CCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGT TCTTACTGATTTGCACCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTC ACTGTCTCAGGTGGTTCTTACTGATTTGCATCTGGGACGCAGGCACTCGC TGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCATCTGG GACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTA CTGATTTGCACC		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15						chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(383): Show CTGGGGTTAGGGAGCCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG GTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03195.hp1 HG02622.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	2	394	0.0051	390	c.49 others(401): Show c.4971_*4972insCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCT CCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCT CCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGGCTCCCTA ACCCCA		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4750		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69076553	C C	CTGTCCCT others(383): Show CTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCG GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCC CTCCTGCCATCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCATGCCA TGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACTTGCCC TCCTGCCATGCCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCC TCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(19): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02735.hp2 HG03491.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20752.hp1	a0006 a0008 a0018 a0006 a0008 a0018	a0006c0007 a0006c0031 a0008c0010 others(1): Show a0006c0007 a0006c0031 a0008c0010 a0018c0039	a0006c0007t0006 a0006c0007t0021 a0006c0031t0006 others(3): Show a0006c0007t0006 a0006c0007t0021 a0006c0031t0006 a0008c0010t0006 a0008c0010t0024 a0018c0039t0006	a0006c0007t0006g0005 a0006c0007t0006g0016 a0006c0007t0006g0166 others(13): Show a0006c0007t0006g0005 a0006c0007t0006g0016 a0006c0007t0006g0166 a0006c0007t0006g0167 a0006c0007t0006g0169 a0006c0007t0006g0171 a0006c0007t0006g0181 a0006c0007t0021g0040 a0006c0031t0006g0165 a0008c0010t0006g0028 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0103 a0008c0010t0024g0028 a0018c0039t0006g0016	22	399	0.0551	390	c.123 others(409): Show c.1231-1906_1231-1905insCGTGTCCCTCCACCTGCCCTCCTGCG GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCC CTCCTGCCATCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCATGCCA TGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACTTGCCC TCCTGCCATGCCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCC TCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCGGTGTCCCTCC ACCTGCCCTCCTGC		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TPK1_chr7_144446941_144841053	144780648	T T	TAGTATAT others(383): Show TAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATAGTATATTATATAGTATATAATATAGTA TAGTATATTATATAGTATATAATATAGTATAGTATATTATATAGTATATA ATATAGTATAGTATATAGTATATTATATACTATACTATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	111	0.0090	390	c.44- others(407): Show c.44-14698_44-14697insTATATAGTATAGTATATAATATACTATA TACTATACTATATTATATACTATATAATATACTATACTATATTATATACT ATATAATATACTATACTATATTATATACTATATAATATACTATACTATAT TATATACTATATAATATAATATACTATATTATATACTATATAATATAATA TACTATATTATATACTATATAATATAATATACTATATTATATACTATATA ATATAATATACTATATTATATACTATATAATATAATATAATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACT		TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8						chr7	TogoVar
TRIM28_chr19_58539064_58555715	58541463	C C	CACCCTGC others(383): Show CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTACTTC CCTCCTCAGACAGGATGCTCCCCCCCACACACCCTGCTTCCCTCCTCAGA CAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCC CCCCCACACACCCTGCTTCCCTCCTCATACAGGATTCTCCCCACACACAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACATCCTGCTTCCCT CCTCAGACAGGATTCTCCCTACACAGAACCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACACACACCCCTGCTTCCCTCCTCAGACATGATTCTTCTCA CACACACCCTGCTTCCCTCAGACAGGATTCTCCCCACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	17	0.0588	390	c.-32 others(401): Show c.-3295_-3294insACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACAGACCCTACTTCCCTCCTCAGACAGGATGCTCCCCCCCACACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCCCCACACACCCTGCTTCCCTCCTCATACAGGAT TCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCAC ACATCCTGCTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACCTGCTT CCCTCCTCAGACAGGATTCTCCCCACACACACCCCTGCTTCCCTCCTCAG ACATGATTCTTCTCACACACACCCTGCTTCCCTCAGACAGGATTCTCCCC ACACAG		TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding					2600		chr19	TogoVar
TRPM7_chr15_50552158_50691797	50564251	A A	AATAAAAT others(383): Show AATAAAATAAAATAACATAACATAACATAACATAACATAACATAACATAA CATAACATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAA CATAAAATAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAA CATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAA CATAAAATAACATAACATAAAATAACATAACATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAA CATAAAATAACATAACATAAAATAACATAAAATAACATAAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0312 a0002c0003t0003g0312	1	332	0.0030	390	c.546 others(409): Show c.5468-2444_5468-2443insGTTATGTTATTTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATGTTATTTTATG TTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATG TTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATTTTATTTTAT		TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38						chr15	TogoVar
TSNARE1_chr8_142207080_142408182	142222767	T T	TCCACTCA others(383): Show TCCACTCACTCACTCACTCATCCACTCACTCACTCATTCACTCACTCACT CATTCACTCACTCATTCATCCACTCACTCATCCACTCACTCATTCACTTA CTCATCCACTCACTCATTCACTTACTCATCCACTCACTCATTCACTCATT CACTCATCCACTCATTCACTCACTCATCCACTCACTCACTCATTCACTCA CTCACTCATTCACTCACTCTCTCATTCACTCATTTACTCACTCACTCAGC CACTCACTCATTCACTCACTCATTCACTCATTCACTCACTCACTCATTCA CTCACTCATTCACTCATTCACTCACTCACTCATACTCATTCACTCATTCA TCCACTCATTCACTCACTCACTCATTCACTCATCCACTCAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0017 a0012c0015t0001g0017	1	226	0.0044	390	c.11 others(407): Show c.11+6705_*11+6706insGTGAGTGGATGAGTGAATGAGTGAGTGA GTGAATGAGTGGATGAATGAGTGAATGAGTATGAGTGAGTGAGTGAATGA GTGAATGAGTGAGTGAATGAGTGAGTGAGTGAATGAGTGAATGAGTGAGT GAATGAGTGAGTGGCTGAGTGAGTGAGTAAATGAGTGAATGAGAGAGTGA GTGAATGAGTGAGTGAGTGAATGAGTGAGTGAGTGGATGAGTGAGTGAAT GAGTGGATGAGTGAATGAGTGAATGAGTGAGTGGATGAGTAAGTGAATGA GTGAGTGGATGAGTAAGTGAATGAGTGAGTGGATGAGTGAGTGGATGAAT GAGTGAGTGAATGAGTGAGTGAGTGAATGAGTGAGTGAGTGGATGAGTGA GTGAGTGAGTGG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(383): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAA AGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACAC CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	93	0.0108	390	c.225 others(409): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG TGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGA		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870743	A A	ACACCACA others(383): Show ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACACCCTACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACCCCAC ACACCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACACCCTACACACCCC ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	162	0.0062	390	c.35 others(409): Show c.35+22010_*35+22011insCACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC ACCCTACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACCCCACACACCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCTACACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(383): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0216 a0001c0001t0020g0216	1	159	0.0063	390	c.82+ others(405): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS53_chr17_503668_719839	643522	G G	GAGGACAA others(383): Show GAGGACAACACTCACACTTGGAAAGCGAGGACAACACTCATACTTGGAAA GCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGGA AATCAAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTTG GAAACCGAGGACAACACTCATACTTGGAAAGTGAGGACAACACTCATACT GGGAAACCGAGGACAACACTCATACTTGGCAACTGAGGACAACACTCATA CTTGGAAACCGAGGACAACACTCATACTTGGCAACTGAGGACAATACTCA TACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT CATACTTGGAAATCAAGGACAACACTCATACTTGGAAATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0148 a0001c0001t0105g0148	1	230	0.0043	390	c.608 others(407): Show c.608+9768_608+9769insTGATTTCCAAGTATGAGTGTTGTCCTTG ATTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTATGAGTGTTGTCCT CGCTTTCCAAGTATGAGTATTGTCCTCAGTTGCCAAGTATGAGTGTTGTC CTCGGTTTCCAAGTATGAGTGTTGTCCTCAGTTGCCAAGTATGAGTGTTG TCCTCGGTTTCCCAGTATGAGTGTTGTCCTCACTTTCCAAGTATGAGTGT TGTCCTCGGTTTCCAAGTATGAGTGTTGTCCTCGGTTTCCAAGTATGAGT GTTGTCCTTGATTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTATGA GTGTTGTCCTCGCTTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTGT GAGTGTTGTCCT		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21						chr17	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(383): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	217	0.0046	390	c.110 others(407): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGTCATGT		VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(383): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG03516.hp1 others(4): Show HG01070.hp1 HG02738.hp1 HG03516.hp1 NA19004.hp2 NA19067.hp2 NA19081.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0023	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0218 a0001c0001t0006g0198 a0001c0001t0022g0134 a0001c0001t0023g0135	7	84	0.0833	390	c.-24 others(407): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(383): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGACATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	78	0.0128	390	c.-24 others(407): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGACATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(383): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACA TATGTATATACACGTGTATACGTATACATATGTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01257.hp1 others(7): Show HG00621.hp1 HG00735.hp2 HG01257.hp1 HG01258.hp1 HG04184.hp2 NA18941.hp1 NA18954.hp2 NA18960.hp1 NA18969.hp1 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0004g0040 a0002c0002t0001g0122 a0002c0002t0003g0123	10	101	0.0990	390	c.46 others(401): Show c.4686_*4687insGTGTATATACATATGTATACGTATACACGTGTAT ATACATATGTATACGTATACACGTGTATATACATATGTATACGTATACAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATAC		ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding					3370		chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(383): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACACATATGATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	193	0.0052	390	c.-36 others(401): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACACATATGATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATGATATATATAT CATATATATCACATATATGATATATATATCATATATATCACATATATGAT ATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370882	C C	CATATATA others(383): Show CATATATATCACATATATGATATATATATCATATATCACATATATGATAT ATATATCATATATCACATATATGATATATATATCATATATCACTCATATG ATATATATCATATATATCACATATATGATATATATCATATGTGATATATA TCATATATATCACATATATGATATATATCATATGTGATATATATCATATA TATCACATATATGATATATATATGTGATATATATCATATATATCACATAT ATGATATATATCACATGTGATATATATCATATATATCACATATATGATAT ATATCATATGTGATATATATCATATATCACAGATATGATATATATCATAT GTGATATATATCATATATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	16	0.0625	390	c.-35 others(401): Show c.-3590_-3589insATATATATCACATATATGATATATATATCATATA TCACATATATGATATATATATCATATATCACATATATGATATATATATCA TATATCACTCATATGATATATATCATATATATCACATATATGATATATAT CATATGTGATATATATCATATATATCACATATATGATATATATCATATGT GATATATATCATATATATCACATATATGATATATATATGTGATATATATC ATATATATCACATATATGATATATATCACATGTGATATATATCATATATA TCACATATATGATATATATCATATGTGATATATATCATATATCACAGATA TGATATATATCATATGTGATATATATCATATATATCACATATATGATATA TATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3486		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(383): Show CCTCCACCACCAACCACACCCCCGCGCCGCATCTCTCCACCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCATCT CTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCC CCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCC ACCACCAACCACACCCCCGCGCTCCATCTCTCCACCACCAACCACACCCC CGCGCCGCACCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCA CCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCATCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03130.hp1 HG03540.hp1 HG01257.hp2 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0019 a0001c0012 a0001c0019	a0001c0012t0159 a0001c0012t0160 a0001c0019t0154 a0001c0012t0159 a0001c0012t0160 a0001c0019t0154	a0001c0012t0159g0121 a0001c0012t0160g0124 a0001c0019t0154g0306 a0001c0012t0159g0121 a0001c0012t0160g0124 a0001c0019t0154g0306	3	277	0.0108	390	c.181 others(411): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGG TGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGATGGAGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGG TGTGGTTGGTGGTGGAGAGATGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGATGCGGCGCGGGGGT GTGGTTGGTGGTGGAG		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ABCA13_chr7_48166458_48652497	48194099	G G	GATGATGA others(384): Show GATGATGAGATAATAGTGATGATGGTGATGATGATGATGGTGCTGATGAT AGTGATGATGGTGATGATGATGATGGTGCTGTTGATAGTGATGATGGTGA TGATGATGATGGAGATGATAGTGATGATGGCAATGATATGATAGTGGAGA TGATAAGAGTAATGATAGTGATGATGATGATATTGATGTTGATGATAATG AAGATTATAGTAATGATAATGGAGAAGATGGAGATAATAGTGATGATGGT GATGATGATGATGGAGGTGATGATAGGGATGATGGTGATGATGATGAAGA TGATTATAGTGATAAGTGTAATTATGATGGCGATAGTAATGGTGGTGATG ATGATGATGGAGATGATGGTTATGATGATGATGGAGACAATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01975.hp2 HG01993.hp1 others(14): Show HG00741.hp2 HG01975.hp2 HG01993.hp1 HG02083.hp1 HG03654.hp1 HG04204.hp2 NA18953.hp1 NA18979.hp1 NA18987.hp1 NA18991.hp1 NA19007.hp2 NA19010.hp2 NA19060.hp1 NA19062.hp1 NA19074.hp2 NA20129.hp2 NA20300.hp1	a0006 a0008 a0009 others(10): Show a0006 a0008 a0009 a0010 a0012 a0021 a0039 a0041 a0078 a0081 a0083 a0084 a0086	a0006c0005 a0008c0013 a0009c0044 others(12): Show a0006c0005 a0008c0013 a0009c0044 a0009c0046 a0010c0016 a0010c0043 a0012c0012 a0021c0018 a0039c0092 a0041c0060 a0078c0052 a0081c0113 a0083c0050 a0084c0058 a0086c0037	a0006c0005t0003 a0008c0013t0002 a0009c0044t0001 others(12): Show a0006c0005t0003 a0008c0013t0002 a0009c0044t0001 a0009c0046t0002 a0010c0016t0001 a0010c0043t0002 a0012c0012t0002 a0021c0018t0004 a0039c0092t0004 a0041c0060t0001 a0078c0052t0001 a0081c0113t0003 a0083c0050t0004 a0084c0058t0001 a0086c0037t0005	a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 others(14): Show a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 a0008c0013t0002g0089 a0009c0044t0001g0100 a0009c0046t0002g0090 a0010c0016t0001g0088 a0010c0043t0002g0102 a0012c0012t0002g0098 a0021c0018t0004g0095 a0039c0092t0004g0099 a0041c0060t0001g0091 a0078c0052t0001g0101 a0081c0113t0003g0097 a0083c0050t0004g0103 a0084c0058t0001g0092 a0086c0037t0005g0096	17	176	0.0966	391	c.163 others(408): Show c.163+1047_163+1048insATGATGAGATAATAGTGATGATGGTGAT GATGATGATGGTGCTGATGATAGTGATGATGGTGATGATGATGATGGTGC TGTTGATAGTGATGATGGTGATGATGATGATGGAGATGATAGTGATGATG GCAATGATATGATAGTGGAGATGATAAGAGTAATGATAGTGATGATGATG ATATTGATGTTGATGATAATGAAGATTATAGTAATGATAATGGAGAAGAT GGAGATAATAGTGATGATGGTGATGATGATGATGGAGGTGATGATAGGGA TGATGGTGATGATGATGAAGATGATTATAGTGATAAGTGTAATTATGATG GCGATAGTAATGGTGGTGATGATGATGATGGAGATGATGGTTATGATGAT GATGGAGACAATA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	2/61						chr7	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(384): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG03486.hp2 others(3): Show HG02486.hp2 HG03041.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0014 a0002c0001 a0004c0030 others(2): Show a0001c0014 a0002c0001 a0004c0030 a0005c0020 a0006c0058	a0001c0014t0030 a0002c0001t0013 a0004c0030t0001 others(3): Show a0001c0014t0030 a0002c0001t0013 a0004c0030t0001 a0004c0030t0003 a0005c0020t0017 a0006c0058t0014	a0001c0014t0030g0001 a0002c0001t0013g0019 a0004c0030t0001g0214 others(3): Show a0001c0014t0030g0001 a0002c0001t0013g0019 a0004c0030t0001g0214 a0004c0030t0003g0020 a0005c0020t0017g0198 a0006c0058t0014g0016	6	30	0.2000	391	c.259 others(412): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTC TCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(384): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18984.hp2 NA18983.hp1 NA18984.hp2	a0002 a0003 a0002 a0003	a0002c0056 a0003c0006 a0002c0056 a0003c0006	a0002c0056t0022 a0003c0006t0047 a0002c0056t0022 a0003c0006t0047	a0002c0056t0022g0073 a0003c0006t0047g0134 a0002c0056t0022g0073 a0003c0006t0047g0134	2	26	0.0769	391	c.259 others(412): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTC TCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(384): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0043 a0003c0009t0003g0043	1	204	0.0049	391	c.259 others(412): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCAT CCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC ATCTCTCCTTTCCTTCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTCTTTC others(384): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0065 a0002c0002t0008g0065	1	138	0.0072	391	c.32- others(404): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAGA AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGA AAGAAAGAA		ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20						chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(384): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTT CCTTCTTTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTTCCTTCCTTTCTT CCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCT TCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGT CTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0038 a0002c0037t0038	a0002c0037t0038g0061 a0002c0037t0038g0061	1	204	0.0049	391	c.106 others(410): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAAAGAGGAAGGGA GGGAGAGAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGG AGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAAGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGAAAAGA		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0021 a0011c0013t0001g0021	1	92	0.0109	391	c.-37 others(402): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(32): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02015.hp2 HG02074.hp2 HG02602.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp2 NA19000.hp2 NA19011.hp2 NA19083.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0016	a0001c0001 a0001c0008 a0001c0017 others(4): Show a0001c0001 a0001c0008 a0001c0017 a0002c0002 a0003c0004 a0008c0016 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0041 a0001c0001t0056 a0001c0001t0061 a0001c0008t0025 a0001c0017t0015 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0042 a0002c0002t0048 a0003c0004t0004 a0003c0004t0016 a0003c0004t0053 a0008c0016t0014 a0016c0022t0001	a0001c0001t0001g0018 a0001c0001t0002g0184 a0001c0001t0002g0202 others(32): Show a0001c0001t0001g0018 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0003g0208 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0005g0068 a0001c0001t0041g0201 a0001c0001t0056g0175 a0001c0001t0061g0182 a0001c0008t0025g0158 a0001c0008t0025g0159 a0001c0017t0015g0177 a0002c0002t0001g0167 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0216 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0006g0218 a0002c0002t0010g0207 a0002c0002t0042g0166 a0002c0002t0048g0160 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0206 a0003c0004t0016g0195 a0003c0004t0053g0198 a0008c0016t0014g0189 a0016c0022t0001g0023	35	126	0.2778	391	c.-37 others(402): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	92	0.0109	391	c.-37 others(402): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3644		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(384): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGG GGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	183	0.0055	391	c.125 others(412): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCTCCTCC CCCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144687444	C C	CGTGACCA others(384): Show CGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACC ACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0194 a0004c0013t0002g0194	1	242	0.0041	391	c.-18 others(402): Show c.-1841_-1840insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAG TGGTCAC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1599		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218550	G G	GATATATA others(384): Show GATATATAAATATATATATGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATACAAATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATATTTGTATGATATATAAATATATATATTT GTATGATATATAAATATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	322	0.0031	391	c.671 others(408): Show c.671-1542_671-1541insATTTATATATCATACAAATATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATA TATTTATATATCATACAAATATATATATATTTATATATCATACAAATATA TATATTTATATATCATACAAATATATATATTTATATATCATACAAATATA TATATTTATATATCATACAAATATATATTTGTATATCATACAAATATATA TATTTATATATCATACAAATATATATATATTTATATATCATACAAATATA TATATATTTATATATCATACAAATATATATATTTATATATCATACAAATA TATATATTTATATATCATACAAATATATATATTTATATATCATACATATA TATATTTATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(384): Show AGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGG GGATGGGAGGGGATGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGA GAGGGAGGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	254	0.0039	391	c.490 others(410): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGATGGGAGGGGGA GGGGAGGGGATGGGAGGGGGATGGGAGGGGATGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAGGGGAGGGGAGAGGGAGGGGGATGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGGATGGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCCC others(384): Show CCCTCCCCTCCCCTCCCCTCCCCTTCTCTTCTCTCTCCTCACTCCTCTCT CCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCTC CCCTCCTCTCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCTC CTCCTCCTCCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC ATCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	128	0.0078	391	c.84+ others(406): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGATGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGGAGGAGGAGGAGAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG GAGAGAGGAGGGGAGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGTGGAGGAGAGAGGAGTGAGGAGAGAGAAGAGAAGGGGAGGGGAG GGGAGGGGAGG		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18						chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(384): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 NA18522.hp2 HG02976.hp1 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0226	3	14	0.2143	391	c.-45 others(412): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCTCTCCCCT		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH13_chr16_82621969_83805640	83031292	C C	CGCATGTA others(384): Show CGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCA TGTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTA TACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATACA CCATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0070 a0001c0002t0013g0070	1	94	0.0106	391	c.158 others(406): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTAT ACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATACAC CATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACA TGTGCATGTAT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDPF1_chr22_46239013_46255293	46244025	T T	TAAAAACT others(384): Show TAAAAACTCTTTATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	278	0.0036	391	c.10 others(402): Show c.1066_*1067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAATAAAG AGTTTTT		CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding	4/4				1066		chr22	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(384): Show CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACT GTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	23	0.0435	391	c.177 others(410): Show c.1779-1959_1779-1958insTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(384): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	376	0.0027	391	c.172 others(408): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3						chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198889	G G	GTACGGTC others(384): Show GTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0156 a0001c0001t0007g0156	1	303	0.0033	391	c.172 others(408): Show c.172-1426_172-1425insGCTGAGGCGTGACGGCGCGTCCCCGTGC TTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCCGCTG AGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198889	G G	GTACGGTC others(384): Show GTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CTTACGGTCCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	303	0.0033	391	c.172 others(408): Show c.172-1426_172-1425insGCTGAGGCGTGACGGCGCGTCCCCGTGC TTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(384): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCTT CCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCA CCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACC CCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCAT CCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCG CACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTT CGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0081 a0002c0001t0002g0081	1	64	0.0156	391	c.360 others(410): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGT GAAGCAGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTG GGGGAGGTGCCGTGA		CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32						chr22	TogoVar
COL18A1_chr21_45400165_45518720	45490490	C C	CCTCGTGG others(384): Show CCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGCCTCC GTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCT GGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGG GTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCC ACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCC TCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCAT GTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGT CTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTCCGTGTGCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0127 a0001c0009t0001g0127	1	264	0.0038	391	c.203 others(408): Show c.2031+147_2031+148insGTGGGTCCCTGGGCCTCCATGTGCCCTC GTGGGTTCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGT GCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGC CTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCT CTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTC CTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCC GGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGC CCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTC CGTGTGCCCACTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A1_chr9_134636803_134849843	134644436	G G	GGGGAAGG others(384): Show GGGGAAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGG CGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCAC TGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAG GCACTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCACTGGGGGA AGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCT GTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAG ATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCG GGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	39	0.0256	391	c.109 others(408): Show c.109+2143_109+2144insAAGGGGGCGGCTGTCCACTGGAGATGCA GGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGG GAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGC TGTCCACTGGAGATGCAGGCACTGGGGGGAGGGGGCGGCTGTCCACTGGA GATGCAGGCACTGGGGGAAGGGGGCGGCTGTCCACTGGAGATGCAGGCGC TGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGG GGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCC ACTGGAGATGCAGGCGCGGGGGGGGAGGGGGCGGCTGTCCACTGGAGATG CAGGCGTGGCGGG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(384): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGATGTGTG AGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCAT GGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACA TGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATC ATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACG TGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGT CATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp2 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0064 a0003c0004t0001g0062 a0003c0004t0001g0064	2	24	0.0833	391	c.177 others(408): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGG AGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGACCCG TGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCAT GGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGT GAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCAT GGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGT GAGGATCATGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COLEC11_chr2_3590112_3649644	3605310	G G	GGGGGAGT others(384): Show GGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGC CGAGGAGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGAGGGGAGTC ACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGG GGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGA GTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGA GGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTG GGTGCCGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGG GGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04199.hp1 HG02015.hp2 HG04199.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0013 a0002c0003 a0006c0013	a0002c0003t0001 a0006c0013t0001 a0002c0003t0001 a0006c0013t0001	a0002c0003t0001g0169 a0006c0013t0001g0258 a0002c0003t0001g0169 a0006c0013t0001g0258	2	376	0.0053	391	c.130 others(406): Show c.130+900_130+901insAGGGGAGTCACGTGGGTGCCGAGGAGGGGG AGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGC CGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGG GGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGG TGCCGAGGAGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGG AGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGC CGAGGAGGGGGCGGGGGAGGGGAGTCACGTGGGTGCCGAGGAGGCGGGGG AGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGC CGAGGAGGGGG		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(384): Show TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCAC CACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCA CCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	36	0.0278	391	c.513 others(406): Show c.513-891_513-890insTGCCACCACCAGTATTACTGTCACCGCCAC CACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCT GCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGC CACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGC		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC1_chr11_30858603_31374739	30917001	T T	TCGAAGAT others(384): Show TCGAAGATGAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTAAGAGCACAACACATTTTGGTCACTTTATTAAATGACATT AAATAGTTTAAGTTTCAACTACTAAACAGCACTTTGAATGGTGAAAACAC AGATAGTATATTGTCATACTTGAATGCTTTTCTTTAAAAACACAATTCCA GTCCTTATATATATTACAAAACAGCCTTAAAGGAAGAAGTGACATCTTTT CTACAGTACTTAAGATACTCAATACAGAACTGAAAAGCAGTCTAACAGAA ACAAAGGCAAGTCTTCACAGCTGTATGATTTCAGCAGCCAAAGCTGGATG ATGGACTGAAACATTACTATACAACTGGGACAAAACATTATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp1 HG03704.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0001 a0025c0031t0001	a0025c0031t0001g0059 a0025c0031t0001g0059	1	150	0.0067	391	c.332 others(400): Show c.3320_3321insTATAATGTTTTGTCCCAGTTGTATAGTAATGTTTCA GTCCATCATCCAGCTTTGGCTGCTGAAATCATACAGCTGTGAAGACTTGC CTTTGTTTCTGTTAGACTGCTTTTCAGTTCTGTATTGAGTATCTTAAGTA CTGTAGAAAAGATGTCACTTCTTCCTTTAAGGCTGTTTTGTAATATATAT AAGGACTGGAATTGTGTTTTTAAAGAAAAGCATTCAAGTATGACAATATA CTATCTGTGTTTTCACCATTCAAAGTGCTGTTTAGTAGTTGAAACTTAAA CTATTTAATGTCATTTAATAAAGTGACCAAAATGTGTTGTGCTCTTAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCTCAT CTTCG	p.Met others(6): Show p.Met1108fs	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	26/39	3487/7298	3320/5361	1107/1786			chr11	TogoVar
DDX51_chr12_132131594_132149319	132135074	T T	TCCCCGAG others(384): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCTACCTCCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0040 a0020c0024t0001g0040	1	226	0.0044	391	c.41 others(402): Show c.4197_*4198insGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCG GAGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTA GCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGC ACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGG GAGGAGTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACC GTGGGCACACTCGGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGG AGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGG GCACCGTGGGCACACTCGGGGAGGTAGGAGGAGCGGGCACCGTGGGCACA CTCGGGG		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1519		chr12	TogoVar

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