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
SLC28A2_chr15_45247234_45282846	45277714	T T	TGGGAATG others(306): Show TGGGAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CCCCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0120 a0002c0002t0027g0120	1	304	0.0033	313	c.22 others(324): Show c.2212_*2213insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCCCCGCGCCCGGCCGGGAATGTTTT	SLC28A2	ENSG00000137860.12	transcript	ENST00000347644.8	protein_coding	18/18	2213	INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(306): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp1 NA20300.hp2 HG02922.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0048 a0001c0001t0005 a0001c0001t0017 a0001c0001t0048	a0001c0001t0005g0111 a0001c0001t0017g0172 a0001c0001t0048g0178 a0001c0001t0005g0111 a0001c0001t0017g0172 a0001c0001t0048g0178	3	182	0.0165	313	c.100 others(332): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	233934806	T T	TAAACAAT others(306): Show TAAACAATGTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18522.hp2 HG00423.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0004 a0001c0002t0008	a0001c0002t0004g0012 a0001c0002t0008g0151 a0001c0002t0004g0012 a0001c0002t0008g0151	2	158	0.0127	313	c.283 others(332): Show c.283+29060_283+29061insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAACAATGTTTC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234076223	T T	TACATTTT others(306): Show TACATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGACT ACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTTTTTAGTA GAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	158	0.0063	313	c.284 others(334): Show c.284-155187_284-155186insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGCGTAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTT TTTGTGTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATTTT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC39A8_chr4_102256666_102350482	102275299	C C	CAAAAACA others(306): Show CAAAAACAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	266	0.0038	313	c.841 others(330): Show c.841-7221_841-7220insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGTTTTGTTTTT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar
SLC4A10_chr2_161619416_161990270	161762268	T T	TAAAAACC others(306): Show TAAAAACCTAATTTCACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	118	0.0085	313	c.49- others(328): Show c.49-8690_49-8689insCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACCTAATTTCA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLTM_chr15_58874050_58938679	58877171	A A	AAGCTTTT others(306): Show AAGCTTTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	386	0.0026	313	c.28 others(324): Show c.2827_*2828insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAATTAAAAGCT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding		1878		chr15	TogoVar
SMAD9_chr13_36839831_36925238	36891157	T T	TAAAAACA others(306): Show TAAAAACATGTTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0004 a0001c0001t0046g0004	1	358	0.0028	313	c.-18 others(334): Show c.-186-11283_-186-11282insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTAACATGTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMIM36_chr17_55444856_55516452	55501353	T T	TTATAATA others(306): Show TTATAATATATATTATGTTATATATTATATTCTATAATATATAATATATT ATATTCTATAATATATAATATATTATATTCTATAATATATAATATATTAT ATATTATAGAATATAATATATTATATATTATATATTATAGAATATAATAT ATAATATATTATATATTATAGAATATAATATATAATATATTATATATTAT AGAATATAATATATAATATATTATATATTATAATATATAATATATAATAT ATTATAGAATATAATATATTATATATTATATATTATAATATATAATATAT TATATATTATAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	340	0.0029	313	c.17 others(332): Show c.174+9525_*174+9526insTTCTATAATATATAATATATTATATA TTATAATATATAATATATAATATATTATATTCTATAATATATTATATATT ATATATTATAATATATAATATATTATATATTATATTCTATAATATATAAT ATATTATATATTATATTCTATAATATATAATATATTATATATTATATTCT ATAATATATAATATATAATATATTATATTCTATAATATATAATATATTAT ATATTATAGAATATAATATATTATATATTATAGAATATAATATATTATAT ATTATAGAATATAATATATAACATAATATATATTATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245826010	T T	TGCTGCTT others(306): Show TGCTGCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTAGCATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0139 a0002c0004t0002g0139	1	150	0.0067	313	c.107 others(334): Show c.1076+32485_1076+32486insCATGCTAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAG CTTGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAGCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245826010	T T	TGCTGCTT others(306): Show TGCTGCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTAGCATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG02615.hp2 others(2): Show HG00738.hp1 HG02258.hp2 HG02615.hp2 HG02895.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001	a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0002t0001g0020 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0002t0001g0020 a0002c0003t0001g0111 a0002c0005t0001g0142	5	150	0.0333	313	c.107 others(334): Show c.1076+32485_1076+32486insCATGCTAGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAGCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(306): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	366	0.0027	313	c.265 others(330): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNX9_chr6_157818246_157950077	157829144	T T	TGGCAATT others(306): Show TGGCAATTATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCCAATTTTTTGTATTTTCAGCA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02280.hp2 others(9): Show HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0003t0003	a0001c0001t0003g0257 a0001c0001t0004g0063 a0001c0001t0004g0066 others(9): Show a0001c0001t0003g0257 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0013g0298 a0001c0001t0017g0064 a0001c0001t0019g0062 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0255 a0001c0003t0003g0258 a0001c0003t0003g0299	12	302	0.0397	313	c.12+ others(328): Show c.12+5714_12+5715insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCCAATTTTTTGTATTTTCA GCAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGGCAATTATATTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179318194	C C	CAAAAAAA others(306): Show CAAAAAAAGCCCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02809.hp1 HG02818.hp2 others(3): Show HG01069.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 NA19030.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0004 a0005c0010 others(1): Show a0001c0001 a0001c0004 a0005c0010 a0007c0018	a0001c0001t0036 a0001c0004t0022 a0001c0004t0035 others(3): Show a0001c0001t0036 a0001c0004t0022 a0001c0004t0035 a0001c0004t0077 a0005c0010t0022 a0007c0018t0022	a0001c0001t0036g0359 a0001c0004t0022g0361 a0001c0004t0035g0363 others(3): Show a0001c0001t0036g0359 a0001c0004t0022g0361 a0001c0004t0035g0363 a0001c0004t0077g0362 a0005c0010t0022g0364 a0007c0018t0022g0365	6	382	0.0157	313	c.119 others(330): Show c.119-5229_119-5228insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCCCA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(306): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGG GACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02486.hp2 HG02738.hp1 others(9): Show HG02293.hp1 HG02486.hp2 HG02738.hp1 HG03209.hp1 HG04115.hp1 NA18943.hp2 NA18965.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA19030.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0023 a0001c0001t0001 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0026 a0001c0001t0001g0237 a0001c0001t0001g0239 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0021g0241 a0001c0001t0023g0238	12	380	0.0316	313	c.-13 others(330): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTC AGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(306): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGG GACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	380	0.0026	313	c.-13 others(330): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTC AGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	105095700	T T	TAAAGAGA others(306): Show TAAAGAGATATGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01167.hp2 others(4): Show HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG02895.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0023 a0001c0001t0003g0079 a0001c0001t0004g0028 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0079 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0094	7	134	0.0522	313	c.109 others(332): Show c.1093+5875_1093+5876insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAGAGATATGGTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX6_chr11_15961449_16361546	16064438	T T	TAAAAATC others(306): Show TAAAAATCATCTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02818.hp1 others(4): Show HG02258.hp2 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0003g0005 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0003g0005 a0001c0001t0003g0031 a0001c0001t0009g0047 a0001c0001t0015g0045 a0001c0001t0015g0046	7	218	0.0321	313	c.110 others(332): Show c.1102-8538_1102-8537insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGAGATGATTTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SPATA17_chr1_217626344_217876696	217740158	A A	AGGCCTTT others(306): Show AGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTTTAGTA GAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	252	0.0040	313	c.396 others(330): Show c.396-1804_396-1803insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTT TTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGCCTTTCTTCTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852271	T T	TGGCCCAT others(306): Show TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCC CCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATC CTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCGGATCCCAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	356	0.0028	313	c.645 others(330): Show c.645+1629_645+1630insCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC TCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCC CACCCCCCGGATCCCACGGCCCATCTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(306): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCAT CCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01175.hp2 others(3): Show HG00642.hp1 HG01123.hp1 HG01175.hp2 HG01884.hp1 HG01978.hp2 HG02486.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0026 a0001c0001 a0011c0026	a0001c0001t0001 a0011c0026t0001 a0001c0001t0001 a0011c0026t0001	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0090 a0011c0026t0001g0073	6	356	0.0169	313	c.645 others(330): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCA CCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCATGGCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(306): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACGCCCCAGATCCCATGGCCCATCTTCCAT CCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	356	0.0028	313	c.645 others(330): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCA CCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACGCCCCAGATC CCATGGCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(306): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0124 a0003c0003t0002g0124	1	260	0.0039	313	c.138 others(332): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(306): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	396	0.0025	313	c.485 others(328): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SSR2_chr1_156004048_156025951	156004603	C C	CCTCCTGC others(306): Show CCTCCTGCCTCAGCCTCCTGAGTAGAAGGGAGCATGATTTACCCAAGGTC ATACAGCCAGTGAGTGGTGGAGTTGGGGCGGGACCCAGTACTCCTGCCTC TGGCATACGTTGCTTCCCCCACTCTTAGCTGCTCTCTCAAGGGACTAAGC CTTGGTAACTTCTCATCCTTTCACTGAATCGCTCCATTACTTCCAGCTTT GTAGAAATTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTTTATCC AGGCTGGAGTGCAACGGCATGATCTTGGCTCACTGCAACCTCCGCCCACC GGGTTCAAGTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00639.hp2 others(116): Show HG00280.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18954.hp2 NA18956.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19082.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0004g0075 a0001c0001t0006g0091 a0001c0002t0001g0069 a0001c0002t0001g0107	119	356	0.3343	313	c.49 others(324): Show c.4936_*4937insAATCACTTGAACCCGGTGGGCGGAGGTTGCAGTG AGCCAAGATCATGCCGTTGCACTCCAGCCTGGATAAAAAAGTGAAACTCC ATCTCAAAAAAAAAAAAAAAGAATTTCTACAAAGCTGGAAGTAATGGAGC GATTCAGTGAAAGGATGAGAAGTTACCAAGGCTTAGTCCCTTGAGAGAGC AGCTAAGAGTGGGGGAAGCAACGTATGCCAGAGGCAGGAGTACTGGGTCC CGCCCCAACTCCACCACTCACTGGCTGTATGACCTTGGGTAAATCATGCT CCCTTCTACTCAGGAGGCTGAGGCAGGAG	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4444		chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76390943	T T	TGTATTTT others(306): Show TGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG03688.hp2 others(1): Show HG02886.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0018 a0001c0001t0027 others(1): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0027 a0002c0002t0007	a0001c0001t0004g0028 a0001c0001t0018g0075 a0001c0001t0027g0032 others(1): Show a0001c0001t0004g0028 a0001c0001t0018g0075 a0001c0001t0027g0032 a0002c0002t0007g0001	4	102	0.0392	313	c.214 others(332): Show c.214-21051_214-21050insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGTATTTTTTTTTTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STPG4_chr2_47081991_47160308	47092141	T T	TGCATTTT others(306): Show TGCATTTTCTAATTTTTCTTTTTTTTTTTTTTGAGACAAAGTCTTGCTCT GTCGCCAAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCACTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTGGTA GAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTT GTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	352	0.0028	313	c.520 others(330): Show c.520-1768_520-1767insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACAAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACCAAAAATACAA AAAAATTAGCCGGGCGTGGTGGCGAGTGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGGTCACGCCACTGCACTCCAGCCTTGGCGACAGAGCAAGACTTTG TCTCAAAAAAAAAAAAAAGAAAAATTAGAAAATGC	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(306): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03453.hp2 NA18948.hp1 others(5): Show HG00621.hp2 HG03453.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18992.hp1 NA19063.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0247	8	262	0.0305	313	c.101 others(332): Show c.101+72475_101+72476insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SVEP1_chr9_110360248_110584741	110373614	T T	TAGCAAGC others(306): Show TAGCAAGCCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0016 a0012c0025t0016	a0012c0025t0016g0265 a0012c0025t0016g0265	1	362	0.0028	313	c.106 others(334): Show c.10600+1753_10600+1754insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATC GCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACATAGGGCTTGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9705988	G G	GCACTGGT others(306): Show GCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCT GTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTG ATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGG TGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACT TGGTGATCTGTATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	294	0.0034	313	c.241 others(330): Show c.241-7411_241-7099dupGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC TGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGT ATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGT GTATACTTGGTGATCTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYN2_chr3_11999388_12197032	12095549	A A	AAAAAAAA others(306): Show AAAAAAAAAAAACAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAGCCAGGCGTTGTGGCAGGTGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAG CTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAG CAAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02074.hp2 NA19000.hp1 others(2): Show HG02004.hp1 HG02074.hp2 NA19000.hp1 NA19056.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0185 others(2): Show a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189	5	264	0.0189	313	c.378 others(332): Show c.378-45091_378-45090insCAAAAAAAAAAACATTGGCCGGGCAC GGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGA TCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCA TCTCTACTGAATATTAAAAAAAAAAAAAAAGCCAGGCGTTGTGGCAGGTG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACC CGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCC TGGGCGACGCAGCAAGACTCCGTCTCAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNDIG1_chr20_24464629_24671616	24670085	G G	GAAGAAGA others(306): Show GAAGAAGAAAGAAAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAAAGAAAG AAGAGAAGACAGAGAAAGAAGAAGAAGAAGAGAAGAAAGACAAGAGAAAA GAAAGAAAGAAGAAGAAGGAAGAAAGAAGAAAGAAGAAAGAAAAGAAAGA AAGAACCAGAAAGAAGAAGAAAGAGAAGAAGAAAGAGAAGAAAAAGAAGA GAAGAGAAGAAAGAGAAGAAAGAAAGAAGAAAGAAAAAGAAAGAAAGAAG AGAAGAAAAGAAGAAGAAAGAAGAAGAAGAAAAGAAAGAAAGAAGAAGAG AAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	270	0.0037	313	c.45 others(324): Show c.4581_*4582insAAGAAGAAAGAAAAGAAGAAGAAGAAAGAAGAAG AAGAAGAAAAGAAAGAAGAGAAGACAGAGAAAGAAGAAGAAGAAGAGAAG AAAGACAAGAGAAAAGAAAGAAAGAAGAAGAAGGAAGAAAGAAGAAAGAA GAAAGAAAAGAAAGAAAGAACCAGAAAGAAGAAGAAAGAGAAGAAGAAAG AGAAGAAAAAGAAGAGAAGAGAAGAAAGAGAAGAAAGAAAGAAGAAAGAA AAAGAAAGAAAGAAGAGAAGAAAAGAAGAAGAAAGAAGAAGAAGAAAAGA AAGAAAGAAGAAGAGAAGAAGAAGAAGAA	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding		3470		chr20	TogoVar
SYT17_chr16_19163240_19273332	19252350	C C	CATCTTGG others(306): Show CATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCCA CCTCAGCCTCCCAAGTTGCTGAGACTACAGGTGCACACAACTATGCCCAG CTAATTTTTGTATTTTTAATAGAGACGGAGTTTCACCATATTGCCCAGGC TGGTCTCGAACTCTTGAGCTCCAGCGATGCACCCTCCTTGGCCTCCCAAA GTGCTGGGATTCCAGGAGTGAGCCACCGTGTGTGGCTGAGACATATATAC ATATATATGTATATATATATATACGTATATATATACGTATATATACACGT ATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0205 a0001c0001t0001g0207	2	324	0.0062	313	c.122 others(334): Show c.1229-14528_1229-14527insCTTGGCTCACTGCAACCTCTGCCT CCCAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGACTA CAGGTGCACACAACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACG GAGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCTTGAGCTCCAGCGA TGCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGAGTGAGCCACC GTGTGTGGCTGAGACATATATACATATATATGTATATATATATATACGTA TATATATACGTATATATACACGTATATATATACGTATAT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D22A_chr22_46757650_47180693	46772471	A A	ATGTATAC others(306): Show ATGTATACACACATATACATATATATGTATACACACATATACATATATAT GTATACACACATATACATATATATGTATACACACATATACATATATATGT ATACACACATATACATATATATGTATACACACATATACATATATATGTAT ACACACATATACATATATATGTATACACACATATACATATATATGTATAC ACACATATACATATATATGTATACACACATATACATATATATGTATACAC ACATATACATATATATGTATACACACATATACATATATATGTATACACAC ATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA20300.hp1 HG01069.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0059	2	112	0.0179	313	c.62+ others(328): Show c.62+9623_62+9624insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATAT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12			chr22	TogoVar
TBRG1_chr11_124617864_124640926	124630035	T T	TAAAATTG others(306): Show TAAAATTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATG GTGGCGCGCTCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	462	0.0022	313	c.739 others(328): Show c.739-344_739-343insGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCAGGCATGGTGGCGCGCTCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATTGAC	TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERF2_chr16_69350567_69391007	69361931	T T	TTCCACTA others(306): Show TTCCACTAGCCTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCTCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03654.hp1 HG03669.hp2 others(8): Show HG02602.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18747.hp2 NA18948.hp2 NA18951.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247	11	340	0.0324	313	c.134 others(330): Show c.1341-443_1341-442insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAGGCTAGTGGA	TERF2	ENSG00000132604.11	transcript	ENST00000254942.8	protein_coding	7/9			chr16	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(306): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCG CCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCAC CACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	392	0.0026	313	c.228 others(332): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGT GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGOLN2_chr2_85313027_85332989	85313188	C C	CTAAAAAT others(306): Show CTAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	313	c.95 others(324): Show c.9547_*9548insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATTTTTA	TGOLN2	ENSG00000152291.15	transcript	ENST00000377386.8	protein_coding		4838		chr2	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(306): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCACCT TCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCT TCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTT CCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTC CCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0114 a0001c0006t0006g0114	1	396	0.0025	313	c.695 others(330): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGAAGGTGGG AGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGG GAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(306): Show CTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCACTGC TCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACCT TCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCT TCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCT TCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTT CCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTC CCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	396	0.0025	313	c.695 others(330): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTG GGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	376691	T T	TGTGCCCC others(306): Show TGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	370	0.0027	313	c.-72 others(322): Show c.-722_-721insGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGA GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		666		chr19	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(306): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC CGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTC TCCCCCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	370	0.0027	313	c.-10 others(324): Show c.-1039_-1038insCACGGGGGGGGGGAGAGGCTGGGTGGGGCACAGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACGGAGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCACC others(306): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCTCCCCCCGTGCCCCACCCAGCCT CTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0057 a0023c0035t0057	a0023c0035t0057g0331 a0023c0035t0057g0331	1	370	0.0027	313	c.-16 others(324): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGG GGAGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1581		chr19	TogoVar
THRB_chr3_24112153_24499850	24301542	T T	TAAAAAAT others(306): Show TAAAAAATTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAACATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0002 a0001c0001t0013g0005 a0001c0001t0011g0002 a0001c0001t0013g0005	2	178	0.0112	313	c.-18 others(332): Show c.-188-4172_-188-4171insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGTTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTAATTTTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	2/10			chr3	TogoVar
TMEM131_chr2_97751336_98000948	97893732	T T	TGGTTTTT others(306): Show TGGTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCTTCCGGGTCCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GCATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	284	0.0035	313	c.291 others(330): Show c.291-5613_291-5612insGGCCGGGCGCGGTGGCTCGCGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGGACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACC	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	3/40			chr2	TogoVar
TMEM41B_chr11_9275654_9319593	9309513	C C	CAGAGCTT others(306): Show CAGAGCTTCCTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG02132.hp1 HG01255.hp2 HG01496.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0202 a0001c0001t0010g0203 a0001c0001t0010g0218 a0001c0001t0002g0202 a0001c0001t0010g0203 a0001c0001t0010g0218	3	370	0.0081	313	c.121 others(330): Show c.121+4807_121+4808insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAGAAGGAAGCTCT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	1/6			chr11	TogoVar
TNKS_chr8_9550912_9787346	9606139	T T	TAAGAGTT others(306): Show TAAGAGTTATTTTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0020 a0001c0016t0020	a0001c0016t0020g0092 a0001c0016t0020g0093 a0001c0016t0020g0092 a0001c0016t0020g0093	2	272	0.0074	313	c.899 others(330): Show c.899-9431_899-9430insTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGAGTTATTTT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9606139	T T	TAAGAGTT others(306): Show TAAGAGTTATTTTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCC GTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02040.hp2 NA18946.hp2 others(1): Show HG02027.hp1 HG02040.hp2 NA18946.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0003 a0001c0003t0029 a0002c0014t0002 a0001c0003t0003 a0001c0003t0029 a0002c0014t0002	a0001c0003t0003g0009 a0001c0003t0029g0011 a0002c0014t0002g0023 others(1): Show a0001c0003t0003g0009 a0001c0003t0029g0011 a0002c0014t0002g0023 a0002c0014t0002g0027	4	272	0.0147	313	c.899 others(330): Show c.899-9431_899-9430insTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCTGGCCAAGAGTTATTTT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TOMM7_chr7_22807974_22827849	22813858	T T	TAAAAATG others(306): Show TAAAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19030.hp2 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0090 a0001c0001t0001g0097	2	420	0.0048	313	c.153 others(328): Show c.153-674_153-673insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGGCTACATTTTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TPRG1_chr3_189166971_189330304	189210836	T T	TAAAAAGA others(306): Show TAAAAAGAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0165 a0001c0001t0025g0165	1	288	0.0035	313	c.210 others(330): Show c.210+3254_210+3255insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCAAAAAAAAAAAAAAAAAAAAGAAATCA	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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