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
SRXN1_chr20_641615_658200	641973	G G	GGGGGGGC others(307): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGTCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGCGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGAGGCCCAGCGGGGGTGGGGTTGC CTGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0157 a0001c0002t0029g0157	1	422	0.0024	314	c.67 others(325): Show c.6740_*6741insACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCACCCCCCCAGGCAACCCCACCCCCGCTGG GCCTCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCGCCC CCCCAGGCAACCCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGACCCCCCC CAGGCAACTCCACCCCCGCTGGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4641		chr20	TogoVar
SSR2_chr1_156004048_156025951	156004603	C C	CCTCCTGC others(307): Show CCTCCTGCCTCAGCCTCCTGAGTAGAAGGGAGCATGATTTACCCAAGGTC ATACAGCCAGTGAGTGGTGGAGTTGGGGCGGGACCCAGTACTCCTGCCTC TGGCATACGTTGCTTCCCCCACTCTTAGCTGCTCTCTCAAGGGACTAAGC CTTGGTAACTTCTCATCCTTTCACTGAATCGCTCCATTACTTCCAGCTTT GTAGAAATTCTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTTTATC CAGGCTGGAGTGCAACGGCATGATCTTGGCTCACTGCAACCTCCGCCCAC CGGGTTCAAGTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	356	0.0028	314	c.49 others(325): Show c.4936_*4937insAATCACTTGAACCCGGTGGGCGGAGGTTGCAGTG AGCCAAGATCATGCCGTTGCACTCCAGCCTGGATAAAAAAGTGAAACTCC ATCTCAAAAAAAAAAAAAAAAGAATTTCTACAAAGCTGGAAGTAATGGAG CGATTCAGTGAAAGGATGAGAAGTTACCAAGGCTTAGTCCCTTGAGAGAG CAGCTAAGAGTGGGGGAAGCAACGTATGCCAGAGGCAGGAGTACTGGGTC CCGCCCCAACTCCACCACTCACTGGCTGTATGACCTTGGGTAAATCATGC TCCCTTCTACTCAGGAGGCTGAGGCAGGAG	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4444		chr1	TogoVar
SSTR5_chr16_1067747_1086454	1075986	C C	CCCCTCCC others(307): Show CCCCTCCCCCTCCCTTTCCCTCCCTCTCTCCCTCTCTCCTCCCCGCCTCC CCATCCCTCTCCCTCTCCCTCCTCTCTCTCTCCCCTACCCTGTCTTTCTC TCTGCCTCCCCGCCTCCCCTTCCCTCTCCCCATACCCTGTCTTTCTCTCT CCCTCCCCGCCTCCCCCTCCCTCTCCCCCCACCTTTTCTCTCTCCCTCCC CACCTCCCCCTCCCTCTCCCTCCCCCCTCACCTCCCCTCCCTTTCCCTCC CTCTCTCCCTCTCTCCTCCCCTCCCCCTCCCTCTCCCTCCCTCTCTCCCT CTCTCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0105 a0002c0004t0002g0105	1	350	0.0029	314	c.-27 others(331): Show c.-27-2853_-27-2852insTCCCCCTCCCTTTCCCTCCCTCTCTCCC TCTCTCCTCCCCGCCTCCCCATCCCTCTCCCTCTCCCTCCTCTCTCTCTC CCCTACCCTGTCTTTCTCTCTGCCTCCCCGCCTCCCCTTCCCTCTCCCCA TACCCTGTCTTTCTCTCTCCCTCCCCGCCTCCCCCTCCCTCTCCCCCCAC CTTTTCTCTCTCCCTCCCCACCTCCCCCTCCCTCTCCCTCCCCCCTCACC TCCCCTCCCTTTCCCTCCCTCTCTCCCTCTCTCCTCCCCTCCCCCTCCCT CTCCCTCCCTCTCTCCCTCTCTCCTCCCCGCCTCCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76390943	T T	TGTATTTT others(307): Show TGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	102	0.0098	314	c.214 others(333): Show c.214-21051_214-21050insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGTATTTTTTTTTTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(307): Show TATTATATATAATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	268	0.0037	314	c.73 others(325): Show c.7318_*7319insATTATATATAATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(307): Show TATTATATATAATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	268	0.0037	314	c.73 others(325): Show c.7318_*7319insATTATATATAATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(307): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01981.hp1 others(9): Show HG00558.hp1 HG00642.hp1 HG01981.hp1 HG02027.hp1 HG02155.hp1 HG02300.hp1 NA18941.hp2 NA18950.hp2 NA18962.hp1 NA18965.hp2 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0001t0001 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 others(9): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0009g0189 a0001c0001t0019g0205	12	268	0.0448	314	c.73 others(325): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637644	T T	TATTATAT others(307): Show TATTATATATGATTATAAAATATAATTATATAATATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATTATATATGA TTATAAAATATAATTATATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	268	0.0037	314	c.74 others(325): Show c.7489_*7490insATTATATATGATTATAAAATATAATTATATAATA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATTATATATGATTATAAAATATAATTATATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4110		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(307): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01169.hp1 HG02572.hp1 others(3): Show HG00280.hp2 HG01169.hp1 HG02572.hp1 HG02602.hp1 HG04228.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0218 others(3): Show a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0250 a0001c0001t0023g0180	6	268	0.0224	314	c.75 others(325): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456783	T T	TGTGTGTA others(307): Show TGTGTGTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTG TATATATATACGTGTGTGTGTATATACACGTGTATATATATACGTGTATA TATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATA TACGTGTGTGTATATATACACACGTGTATATATATACACGTGTGTATATA TACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATA CACGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACA CGTGTATATATATAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19090.hp2 NA19001.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0127 a0001c0001t0002g0128	2	392	0.0051	314	c.271 others(331): Show c.271-3735_271-3734insGTATATATATACACGTGTATATATACAC ACACGTATATATATACACGTGTATATATACACACGTGTATATATATACAC GTGTATATATACACACACGTATATATATACACGTGTATATATACACACGT GTATATATATACACGTGTGTATATATACACACACGTATATATATACACGT GTATATATACACACACGTATATATATACACGTGTATATATACACGTATAT ATATACACGTGTATATACACACACACGTATATATATACACGTATATATAC ACACACACGTATATATATACACGTATATATACACAC	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(307): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTATATATACACGTGTATAT ATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	392	0.0026	314	c.271 others(331): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACACACGTATATATATA CACGTGTATATATACACACACGTATATATATACACGTGTATATATACACA CACGTATATATATACACGTGTATATATACACGTATATATATACACGTATA TATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(307): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	262	0.0038	314	c.101 others(333): Show c.101+72475_101+72476insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SYN2_chr3_11999388_12197032	12095535	G G	GAGACTCT others(307): Show GAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGCA CGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCC ATCTCTACTGAATATTAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGT GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGC CTGGGCGACACAGCA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0249 a0005c0005t0002g0249	1	264	0.0038	314	c.378 others(333): Show c.378-45110_378-45109insTGTCTCAAAAAAAAAAAAAAAAAAAA AAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAAAAAAGC CGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG TGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(307): Show AAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02922.hp1 others(2): Show HG01109.hp1 HG02630.hp2 HG02922.hp1 HG03453.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0007 a0001c0001t0002 a0003c0003t0007	a0001c0001t0002g0046 a0003c0003t0007g0199 a0003c0003t0007g0201 others(2): Show a0001c0001t0002g0046 a0003c0003t0007g0199 a0003c0003t0007g0201 a0003c0003t0007g0202 a0003c0003t0007g0203	5	264	0.0189	314	c.378 others(333): Show c.378-45080_378-45079insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(307): Show AAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGTGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02723.hp2 others(5): Show HG02055.hp2 HG02559.hp2 HG02723.hp2 HG03209.hp2 HG03471.hp2 HG06807.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 others(5): Show a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044	8	264	0.0303	314	c.378 others(333): Show c.378-45080_378-45079insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGTGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(307): Show AAAAAAAAAAAAACAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCA GGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAA TATTAAAAAAAAAAAAAAAGCCAGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	264	0.0038	314	c.378 others(333): Show c.378-45091_378-45090insCAAAAAAAAAAACATTGGCCGGGCAC GGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGA TCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCA TCTCTACTGAATATTAAAAAAAAAAAAAAAGCCAGGCGTTGTGGCAGGTG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACC CGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCC TGGGCGACGCAGCAAGACTCCGTCTCAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(307): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGG AAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTG TCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGG TGTACATGAAGGAGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0033 a0003c0004t0005g0033	1	292	0.0034	314	c.395 others(331): Show c.395-5980_395-5979insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTG GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTA CATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701191	G G	GATGAAGG others(307): Show GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTG TGAGCTGGGGTGTAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	292	0.0034	314	c.395 others(331): Show c.395-5980_395-5979insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGT CATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701191	G G	GATGAAGG others(307): Show GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCCG TGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAGTG TGAGCTGGGGTGTAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	292	0.0034	314	c.395 others(331): Show c.395-5980_395-5979insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTG GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTA CATGAAGGAGTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TANGO6_chr16_68838531_69090182	68940586	T T	TTGGTGAA others(307): Show TTGGTGAACTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0151 a0002c0004t0001g0151	1	210	0.0048	314	c.270 others(335): Show c.2701+10304_2701+10305insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGGTGAACTTTCT	TANGO6	ENSG00000103047.8	transcript	ENST00000261778.2	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TAS2R42_chr12_11180993_11191937	11189297	C C	CAAACTGG others(307): Show CAAACTGGGAATCAAATGAAATACTCTATTTTCTGATGAAAAGTATTAAA AAAAAAACCTAGAGCAAATATTATAGCTATCGATGATGTACTGAAATCCT TCTCCCTGAGTTTAGGACCAAGTCAGTGATAACCATCTTACTAGGTCTAT TTTTTTTAAGTTGTCTATTGATCAAAGTAAGGCAAGAAAAATATATTTTA AGAAATTATAGGCTGGACATGATGGCTCACCCGTGTAATCCCAGCACACT GGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGAAGTTCAAGACTAGCC TGGGCAACATAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00642.hp2 others(80): Show HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18960.hp1 NA18973.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0003 a0005c0006 a0006c0005 a0003c0003 a0005c0006 a0006c0005	a0003c0003t0001 a0005c0006t0001 a0006c0005t0001 a0003c0003t0001 a0005c0006t0001 a0006c0005t0001	a0003c0003t0001g0000 a0005c0006t0001g0000 a0006c0005t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000 a0006c0005t0001g0000	83	427	0.1944	314	c.-23 others(325): Show c.-2361_-2360insTAACTATGTTGCCCAGGCTAGTCTTGAACTTCTG GGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAGTGTGCTGGGATTACACG GGTGAGCCATCATGTCCAGCCTATAATTTCTTAAAATATATTTTTCTTGC CTTACTTTGATCAATAGACAACTTAAAAAAAATAGACCTAGTAAGATGGT TATCACTGACTTGGTCCTAAACTCAGGGAGAAGGATTTCAGTACATCATC GATAGCTATAATATTTGCTCTAGGTTTTTTTTTTAATACTTTTCATCAGA AAATAGAGTATTTCATTTGATTCCCAGTTT	TAS2R42	ENSG00000186136.1	transcript	ENST00000334266.1	protein_coding		2361		chr12	TogoVar
TAS2R42_chr12_11180993_11191937	11189297	C C	CAAACTGG others(307): Show CAAACTGGGAATCAAATGAAATACTCTATTTTCTGATGAAAAGTATTAAA AAAAAAACCTAGAGCAAATATTATAGCTATCGATGATGTACTGAAATCCT TCTCCCTGAGTTTAGGACCAAGTCAGTGATAACCATCTTACTAGGTCTAT TTTTTTTAAGTTGTCTATTGATGAAAGTAAGGCAAGAAAAATATATTTTA AGAAATTATAGGCTGGACATGATGGCTCACCCGTGTAATCCCAGCACACT GGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGAAGTTCAAGACTAGCC TGGGCAACATAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	427	0.0023	314	c.-23 others(325): Show c.-2361_-2360insTAACTATGTTGCCCAGGCTAGTCTTGAACTTCTG GGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAGTGTGCTGGGATTACACG GGTGAGCCATCATGTCCAGCCTATAATTTCTTAAAATATATTTTTCTTGC CTTACTTTCATCAATAGACAACTTAAAAAAAATAGACCTAGTAAGATGGT TATCACTGACTTGGTCCTAAACTCAGGGAGAAGGATTTCAGTACATCATC GATAGCTATAATATTTGCTCTAGGTTTTTTTTTTAATACTTTTCATCAGA AAATAGAGTATTTCATTTGATTCCCAGTTT	TAS2R42	ENSG00000186136.1	transcript	ENST00000334266.1	protein_coding		2361		chr12	TogoVar
TAS2R42_chr12_11180993_11191937	11189297	C C	CAAACTGG others(307): Show CAAACTGGGAATCACATGAAATACTCTATTTTCTGATGAAAAGTATTAAA AAAAAAACCTAGAGCAAATTTTATAGCTATCGATGATGTACTGAAATCCT TCTCCCTGAGTTTAGGACCAAGTCAGTGATAACCATCTTACTAGGTCTAT TTTTTTTAAGTTGTCTATTGATCAAAGTAAGGCAAGAAAAATATATTTTA AGAAATTATAGGCTGGACATGATGGCTCACCCGTGTAATCCCAGCACACT GGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGAAGTTCAAGACTAGCC TGGGCAACATAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(211): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03017.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	214	427	0.5012	314	c.-23 others(325): Show c.-2361_-2360insTAACTATGTTGCCCAGGCTAGTCTTGAACTTCTG GGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAGTGTGCTGGGATTACACG GGTGAGCCATCATGTCCAGCCTATAATTTCTTAAAATATATTTTTCTTGC CTTACTTTGATCAATAGACAACTTAAAAAAAATAGACCTAGTAAGATGGT TATCACTGACTTGGTCCTAAACTCAGGGAGAAGGATTTCAGTACATCATC GATAGCTATAAAATTTGCTCTAGGTTTTTTTTTTAATACTTTTCATCAGA AAATAGAGTATTTCATGTGATTCCCAGTTT	TAS2R42	ENSG00000186136.1	transcript	ENST00000334266.1	protein_coding		2361		chr12	TogoVar
TASP1_chr20_13384394_13643932	13627912	T T	TAAAAAGT others(307): Show TAAAAAGTAATCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	290	0.0035	314	c.145 others(331): Show c.145+2021_145+2022insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGGAAGATTACTTTTT	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	2/13			chr20	TogoVar
TBCE_chr1_235362427_235457443	235412163	T T	TCCCCCTC others(307): Show TCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCC CTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC CTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	268	0.0037	314	c.186 others(331): Show c.186-2270_186-2269insCCCCCTCCCCTCCCCTCCCCATCCCCTC CCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCT CCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TC2N_chr14_91774746_91872536	91780905	T T	TAAAACAT others(307): Show TAAAACATTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0327 a0001c0001t0039g0327	1	344	0.0029	314	c.21 others(325): Show c.2194_*2195insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTAAATGTTTT	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding	12/12	2194		chr14	TogoVar
TCF7L1_chr2_85128392_85315387	85313188	C C	CTAAAAAT others(307): Show CTAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01516.hp2 HG01257.hp1 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0050 a0002c0002t0003g0068 a0002c0002t0001g0050 a0002c0002t0003g0068	2	236	0.0085	314	c.37 others(325): Show c.3726_*3727insTAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding		2802		chr2	TogoVar
TEKT1_chr17_6792993_6836729	6827942	T T	TTCTCTTC others(307): Show TTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0327 a0002c0003t0002g0327	1	406	0.0025	314	c.190 others(331): Show c.190+2244_190+2245insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGA	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding	2/7			chr17	TogoVar
TENT5A_chr6_81740730_81757681	81740880	A A	ACGATATA others(307): Show ACGATATAATATGTATCATATTATATACGATATAATATGTATCATATTAT ATACGATATAATATGTATCATATTATATACGATATAATATGTATCATAGT ATATACGATATAATATGTATCATAGTATATACGATATAATATGTATCATA GTATATACGATATAATATGTATCATAGTATATACGATATAATATGTATCA TAGTATATACGATATAATATGTATCATAGTATATACGATATAATATGTAT CATATTATATACGATATAATATGTATCATATTATATACGATATAATGTGT ATCATATTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0013 a0009c0011t0013	a0009c0011t0013g0044 a0009c0011t0013g0044	1	446	0.0022	314	c.88 others(325): Show c.8814_*8815insAATATATAATATGATACACATTATATCGTATATA ATATGATACATATTATATCGTATATAATATGATACATATTATATCGTATA TACTATGATACATATTATATCGTATATACTATGATACATATTATATCGTA TATACTATGATACATATTATATCGTATATACTATGATACATATTATATCG TATATACTATGATACATATTATATCGTATATACTATGATACATATTATAT CGTATATAATATGATACATATTATATCGTATATAATATGATACATATTAT ATCGTATATAATATGATACATATTATATCG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4849		chr6	TogoVar
TERF2_chr16_69350567_69391007	69361931	T T	TTCCACTA others(307): Show TTCCACTAGCCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCTCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0242 a0001c0001t0018g0242	1	340	0.0029	314	c.134 others(331): Show c.1341-443_1341-442insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAGAGGCTAGTGGA	TERF2	ENSG00000132604.11	transcript	ENST00000254942.8	protein_coding	7/9			chr16	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CCGCCATC others(307): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGGCCCCACGACCACCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGGCCCCACGACC ACCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACC ACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	392	0.0026	314	c.228 others(333): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGTGGTGACTGTGG ATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGGTCGTGGGGC CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGGTCG TGGGGCCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGFBR3_chr1_91675343_91891151	91768787	T T	TTAAACCT others(307): Show TTAAACCTCTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGGCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0012 a0013c0030t0012	a0013c0030t0012g0160 a0013c0030t0012g0160	1	284	0.0035	314	c.247 others(333): Show c.247-10038_247-10037insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGCCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAGGTTTA	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	3/16			chr1	TogoVar
TGOLN2_chr2_85313027_85332989	85313188	C C	CTAAAAAT others(307): Show CTAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	314	c.95 others(325): Show c.9547_*9548insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTTTTA	TGOLN2	ENSG00000152291.15	transcript	ENST00000377386.8	protein_coding		4838		chr2	TogoVar
TGOLN2_chr2_85313027_85332989	85313188	C C	CTAAAAAT others(307): Show CTAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp2 NA18955.hp1 others(1): Show HG01255.hp1 HG01255.hp2 NA18955.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0030 a0001c0001t0001 a0001c0001t0011 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0011g0017 a0001c0001t0030g0066 a0001c0001t0001g0001 a0001c0001t0011g0017 a0001c0001t0030g0066	4	394	0.0102	314	c.95 others(325): Show c.9547_*9548insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTTTTA	TGOLN2	ENSG00000152291.15	transcript	ENST00000377386.8	protein_coding		4838		chr2	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(307): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTT CCCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18522.hp1 HG02896.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0005 a0001c0001t0001 a0001c0016t0005	a0001c0001t0001g0332 a0001c0016t0005g0334 a0001c0001t0001g0332 a0001c0016t0005g0334	2	396	0.0051	314	c.695 others(331): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(307): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCACACCTT CCCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 NA19030.hp2 HG02965.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0015 a0001c0015t0015	a0001c0015t0015g0017 a0001c0015t0015g0343 a0001c0015t0015g0017 a0001c0015t0015g0343	3	396	0.0076	314	c.695 others(331): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGTGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(307): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTT CCCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(173): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(4): Show a0001 a0005 a0008 a0011 a0012 a0013 a0015	a0001c0001 a0001c0002 a0001c0005 others(18): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016 a0001c0022 a0001c0023 a0001c0028 a0001c0036 a0001c0037 a0001c0038 a0001c0041 a0001c0044 a0001c0045 a0005c0025 a0005c0049 a0008c0026 a0011c0042 a0012c0050 a0013c0052 a0015c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0002t0002 a0001c0002t0017 a0001c0002t0022 a0001c0005t0001 a0001c0005t0003 a0001c0005t0018 a0001c0006t0006 a0001c0006t0008 a0001c0006t0027 a0001c0016t0003 a0001c0022t0007 a0001c0023t0001 a0001c0028t0001 a0001c0036t0001 a0001c0037t0003 a0001c0038t0001 a0001c0041t0001 a0001c0044t0003 a0001c0045t0003 a0005c0025t0002 a0005c0025t0023 a0005c0049t0004 a0008c0026t0001 a0011c0042t0001 a0012c0050t0001 a0013c0052t0008 a0015c0035t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(149): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0272 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0096 a0001c0001t0003g0139 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0212 a0001c0001t0003g0219 a0001c0001t0003g0243 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0004g0054 a0001c0001t0004g0061 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0097 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0004g0147 a0001c0001t0004g0155 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0005g0135 a0001c0001t0005g0150 a0001c0001t0005g0202 a0001c0001t0010g0005 a0001c0001t0010g0080 a0001c0001t0010g0222 a0001c0001t0010g0227 a0001c0001t0019g0154 a0001c0001t0032g0184 a0001c0001t0034g0211 a0001c0001t0036g0140 a0001c0002t0002g0002 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0112 a0001c0002t0002g0146 a0001c0002t0002g0159 a0001c0002t0002g0170 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0188 a0001c0002t0002g0198 a0001c0002t0017g0223 a0001c0002t0017g0240 a0001c0002t0022g0094 a0001c0005t0001g0328 a0001c0005t0003g0308 a0001c0005t0018g0032 a0001c0006t0006g0068 a0001c0006t0006g0074 a0001c0006t0006g0169 a0001c0006t0006g0172 a0001c0006t0006g0341 a0001c0006t0008g0118 a0001c0006t0027g0179 a0001c0016t0003g0144 a0001c0022t0007g0189 a0001c0023t0001g0127 a0001c0023t0001g0149 a0001c0028t0001g0029 a0001c0036t0001g0333 a0001c0037t0003g0141 a0001c0038t0001g0160 a0001c0041t0001g0036 a0001c0044t0003g0058 a0001c0045t0003g0145 a0005c0025t0002g0110 a0005c0025t0023g0078 a0005c0049t0004g0109 a0008c0026t0001g0203 a0008c0026t0001g0207 a0011c0042t0001g0152 a0012c0050t0001g0072 a0013c0052t0008g0206 a0015c0035t0003g0200	176	396	0.4444	314	c.695 others(331): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(307): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTT CCCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0192 a0001c0001t0028g0192	1	396	0.0025	314	c.695 others(331): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCCACC others(307): Show CCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	2	370	0.0054	314	c.-10 others(325): Show c.-1039_-1038insCACACAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
THEG_chr19_356747_381026	377417	C C	CCCCTGTG others(307): Show CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18962.hp1 NA18944.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0177 a0002c0002t0001g0178	2	370	0.0054	314	c.-14 others(325): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
THEG_chr19_356747_381026	377603	T T	TGTGCCCC others(307): Show TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	370	0.0027	314	c.-16 others(325): Show c.-1634_-1633insGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1578		chr19	TogoVar
TLCD2_chr17_1697816_1715377	1704863	G G	GCCCGGCA others(307): Show GCCCGGCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0179 a0001c0002t0043g0179	1	451	0.0022	314	c.29 others(325): Show c.2906_*2907insTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATTGCCGGG	TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding	4/4	2906		chr17	TogoVar
TLCD2_chr17_1697816_1715377	1704863	G G	GCCCGGCA others(307): Show GCCCGGCAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCGGCTAATTTTTTGTATTTTAGTAGAG ACGGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0257 a0001c0002t0059g0257	1	451	0.0022	314	c.29 others(325): Show c.2906_*2907insTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTACTAAAATACAAAAA ATTAGCCGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAATTGCCGGG	TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding	4/4	2906		chr17	TogoVar
TLCD2_chr17_1697816_1715377	1704863	G G	GCCCGGCC others(307): Show GCCCGGCCAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0189 a0001c0001t0046g0189	1	451	0.0022	314	c.29 others(325): Show c.2906_*2907insTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAATTGGCCGGG	TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding	4/4	2906		chr17	TogoVar
TMC1_chr9_72516608_72843297	72616617	T T	TAAGAACA others(307): Show TAAGAACAGAGCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAAAACGGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01099.hp2 others(12): Show HG00280.hp1 HG01070.hp1 HG01099.hp2 HG01346.hp1 HG02027.hp1 HG02257.hp2 HG02698.hp1 HG03098.hp2 HG03486.hp2 HG03540.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18965.hp2 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0003t0009 a0001c0003t0014 others(5): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0014 a0001c0003t0029 a0001c0003t0035 a0001c0004t0008 a0001c0004t0010 a0001c0005t0010	a0001c0003t0001g0007 a0001c0003t0001g0011 a0001c0003t0001g0014 others(12): Show a0001c0003t0001g0007 a0001c0003t0001g0011 a0001c0003t0001g0014 a0001c0003t0009g0013 a0001c0003t0009g0018 a0001c0003t0014g0012 a0001c0003t0029g0140 a0001c0003t0035g0008 a0001c0004t0008g0004 a0001c0004t0008g0009 a0001c0004t0008g0010 a0001c0004t0008g0015 a0001c0004t0010g0003 a0001c0004t0010g0116 a0001c0005t0010g0002	15	182	0.0824	314	c.-19 others(331): Show c.-196+153_-196+154insGCCGGGCGTGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTATTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAGAACAGAGCAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCACTGGG others(307): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	314	0.0032	314	c.189 others(329): Show c.189-472_189-471insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747895	G G	GCACTGGG others(307): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	314	0.0032	314	c.189 others(329): Show c.189-430_189-429insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(307): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(17): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG01070.hp1 HG01175.hp1 HG02132.hp2 HG02738.hp1 HG02897.hp1 HG04228.hp1 HG04228.hp2 NA18946.hp1 NA18951.hp2 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18982.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0038g0091	20	348	0.0575	314	c.11 others(327): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATA TAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(307): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATTTATATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	348	0.0029	314	c.11 others(327): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATATAAATATATAAATATATAAAAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATA TAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(307): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATACATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01516.hp1 HG01517.hp2 others(3): Show HG01081.hp1 HG01516.hp1 HG01517.hp2 HG03942.hp1 NA18960.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0148	6	348	0.0172	314	c.11 others(327): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATA TAAATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar

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