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
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(170): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	214	0.0047	177	c.691 others(196): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTC C	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GGCCCCGC others(170): Show GGCCCCGCTCACACCCGAACCGCTCACCCCCGACCCGCTCACCCCCGACC CGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCCGCTCACCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	242	0.0041	177	c.39 others(188): Show c.3947_*3948insGAGCGGGGCCGGGGTGAGCGGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGG CCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGGGTGAGCGGTTCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(170): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATTATA CACACATATATATACATACACATATATATATACACACACACACAGAGTTT TGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19083.hp1 NA18954.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0189 a0001c0001t0002g0057 a0001c0001t0002g0189	2	266	0.0075	177	c.240 others(196): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATAT A	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072819	C C	CGGGCATC others(170): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	177	c.224 others(194): Show c.2241+813_2241+814insCGTGTGCTGGGGGCTCACTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGT GTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(170): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 HG02717.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	2	386	0.0052	177	c.563 others(194): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAA others(170): Show ATATATAATATATATTATATATTTATATATTATATATATTTATATATATT ATATATTTATATATTATATATATTTATATATATTATATATTTATATATTA TATATATTTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG02738.hp2 HG00738.hp2 HG02486.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0064 a0001c0001t0003g0011 a0001c0001t0003g0064	3	336	0.0089	177	c.293 others(194): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATTATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAAAGAG others(170): Show GGAAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGA GGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGA GAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGGGAGACCGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0109 a0002c0001t0001g0109	1	188	0.0053	177	c.83 others(188): Show c.8343_*8344insTCCACGGTCTCCCCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTC TCTCCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCC TCTCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCTTTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203446	A A	AGGGAGAG others(170): Show AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAG AGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGAG GGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGAGACCGTGGAGAGAGGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	188	0.0053	177	c.81 others(188): Show c.8125_*8126insCCTCTCCCTCTCTCCACGGTCTCTCTCTCCCTCT CTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCT CTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCT CCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3727		chr8	TogoVar
SLCO3A1_chr15_91848708_92170903	92047563	T T	TTTATATA others(170): Show TTTATATATTATATATATTTATATATATTTATATATTATATATATATTTA TATATTTATTTATATATTATATATATTTATATATAATATATAAATATATA TATAAATATATATATAATATATAAATATATATATAAATATATATATAATA TATAAATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0013 a0001c0001t0039g0013	1	190	0.0053	177	c.647 others(196): Show c.647-47318_647-47317insTTATATATTATATATATTTATATATA TTTATATATTATATATATATTTATATATTTATTTATATATTATATATATT TATATATAATATATAAATATATATATAAATATATATATAATATATAAATA TATATATAAATATATATATAATATATAAATATATATATAAATATATATAT A	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SMC4_chr3_160394650_160439953	160409102	T T	TAAAAATA others(170): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG02976.hp2 others(4): Show HG00099.hp2 HG00673.hp1 HG02976.hp2 HG03669.hp1 HG03834.hp2 NA18971.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0005 a0002c0008t0005 a0002c0002t0005 a0002c0008t0005	a0002c0002t0005g0030 a0002c0002t0005g0133 a0002c0002t0005g0136 others(3): Show a0002c0002t0005g0030 a0002c0002t0005g0133 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0008t0005g0134 a0002c0008t0005g0135	7	332	0.0211	177	c.688 others(194): Show c.688-2813_688-2812insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMIM14_chr4_39541336_39643865	39562810	A A	ATTTTTGT others(170): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18982.hp2 HG02559.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0208 a0001c0001t0003g0096 a0001c0001t0003g0208	2	344	0.0058	177	c.125 others(194): Show c.125-6241_125-6240insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMOC2_chr6_168436184_168672992	168596044	C C	CGTGAACA others(170): Show CGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAA CAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAG AGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTG CTGCTGGAGAGGCATGAACAGGTGCCAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02004.hp1 HG03130.hp2 others(3): Show HG01256.hp2 HG02004.hp1 HG03130.hp2 HG03195.hp2 NA18990.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0168 a0001c0001t0003g0116 a0001c0002t0002g0044	6	180	0.0333	177	c.638 others(194): Show c.638-2731_638-2730insAATGAACAGGTGCCATGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTG AACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAGG TGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596280	T T	TGTGAACA others(170): Show TGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAA CAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAG AGGAATGAACAAGCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTG CTGCTGGAGAGGCATGAACAGGCGCCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	177	c.638 others(194): Show c.638-2428_638-2427insAGCGCCACGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGCATGAACAGGCGCCACGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596398	T T	TGTGAACA others(170): Show TGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAA CAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAG AGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTG CTGCTGGAGAGGAATGAACAGGTGCCAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02004.hp1 HG03130.hp2 others(1): Show HG01256.hp2 HG02004.hp1 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0084 a0001c0001t0001g0168 a0001c0001t0003g0116 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0168 a0001c0001t0003g0116 a0001c0002t0002g0044	4	180	0.0222	177	c.638 others(194): Show c.638-2395_638-2394insTGGGTGCTGCTGGAGAGGAATGAACAGG TGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGA ATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGC TGGAGAGGAATGAACAGGTGCCACGTGAACACGGCAGTGATGAGTTTCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(170): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19057.hp1 NA18747.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0050 a0001c0001t0001g0067	2	150	0.0133	177	c.165 others(196): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGCGTTGT T	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448843	T T	TCTCCCTC others(170): Show TCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCC TCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	168	0.0060	177	c.548 others(196): Show c.548+52490_548+52491insCCCTCCCTTCCTCTTTTCCCTCTCTC CCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC T	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448890	C C	CCCTTCCT others(170): Show CCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCC CTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0049 a0009c0024t0049	a0009c0024t0049g0108 a0009c0024t0049g0108	1	168	0.0060	177	c.548 others(196): Show c.548+52538_548+52539insTCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCCTCCCTCCCTTCCTCCCTCTCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCTTCC T	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5706169	A A	ACTGGGGT others(170): Show ACTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGG GGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGA GGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCA GGGAGACTGGGGTGGAGGAGCAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01516.hp2 HG01517.hp1 HG01167.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0000 a0001c0001t0019g0000 a0001c0001t0003g0000 a0001c0001t0019g0000	3	434	0.0069	177	c.12 others(190): Show c.12122_*12123insCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGA GGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGC AGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAG ACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4785		chr2	TogoVar
SPADH_chr10_122667850_122684494	122681397	A A	ATGTGTGA others(170): Show ATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCT GTCAACCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAACATCAGACCT TTTACCTCTGTCAACCATGGTTTCCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	414	0.0024	177	c.23 others(188): Show c.2349_*2350insTGTGTGAACTGGAGATAGAAACATCAGACCTTTT ACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATC AGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACGGGAGAT AGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCG	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1904		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681456	A A	ATGTGTGA others(170): Show ATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTCCTCGTGTGTGAACGGGAGATAGAAACATCAGACCTTTTACCTCT GTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACGTCAGACCT TTTACCTCTGTCAACCATGGTTTTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0014 a0003c0005t0002g0014	1	414	0.0024	177	c.24 others(188): Show c.2408_*2409insTGTGTGAACTGGAGATAGAAACATCAGACCTTTT ACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAACATC AGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGAT AGAAACGTCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCG	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1963		chr10	TogoVar
SPATS2L_chr2_200301693_200487264	200330213	C C	CTGTTATT others(170): Show CTGTTATTGTTAATCAGTATTGGTATTTGAATAGGGATATCCAAAGTATT TGCTGAACAGAAAGCATGTTGTTTTAGGTCCATATTTTCCCTGAAAGTAT TTTTATTATTATCATTTTTAAAATTTTTCCCTCCAATGGTCTTATTTAAT TTACTTAACAAGCCGTATATTCCTTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	300	0.0033	177	c.-23 others(192): Show c.-23+733_-23+734insTGTTATTGTTAATCAGTATTGGTATTTGAA TAGGGATATCCAAAGTATTTGCTGAACAGAAAGCATGTTGTTTTAGGTCC ATATTTTCCCTGAAAGTATTTTTATTATTATCATTTTTAAAATTTTTCCC TCCAATGGTCTTATTTAATTTACTTAACAAGCCGTATATTCCTTGTG	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12			chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(170): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	260	0.0039	177	c.138 others(196): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCC C	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(170): Show AGGGGAGGGGAGGGAAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	260	0.0039	177	c.138 others(196): Show c.1384-5708_1384-5707insCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCTCCCCTCCC C	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP68_chr17_76033785_76077517	76062684	A A	AATATACA others(170): Show AATATACATTATATATTATATAATATATAATATACATTATATATTATATA ATATACATTATATATTATATAATATACATTATATATTATATAATATATAA TATACATTATATATTATATAATATATAATATACATTATATATTATATAAT ATATAATATACATTATATATTATATAAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	365	0.0027	177	c.562 others(194): Show c.562-1111_562-1110insATTATATAATATATAATGTATATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATATTATATAATATATAATGTATATTATATAATATATAATGTATAT TATATAATATATAATGTATATTATATATTATATAATATATAATGTATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG03130.hp1 others(2): Show HG02622.hp1 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0255 a0001c0001t0005g0134 a0001c0001t0005g0135	5	386	0.0130	177	c.483 others(192): Show c.483+143_483+144insTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG02132.hp1 others(4): Show HG00280.hp2 HG01099.hp2 HG02132.hp1 HG02559.hp1 HG02717.hp1 HG03927.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0237 a0001c0002t0004g0260 a0001c0002t0004g0263 a0001c0002t0004g0268	7	386	0.0181	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCAGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0200 a0001c0001t0003g0204	2	386	0.0052	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCTGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	386	0.0026	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG01167.hp1 others(21): Show HG00323.hp1 HG00438.hp2 HG01167.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 NA18944.hp2 NA18953.hp2 NA18969.hp1 NA19004.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164	24	386	0.0622	177	c.483 others(192): Show c.483+143_483+144insTGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02886.hp2 others(8): Show HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03516.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0099 a0001c0001t0001g0212 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0099 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0239 a0001c0001t0004g0271 a0001c0001t0004g0272	11	386	0.0285	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(68): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01358.hp2 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02523.hp2 HG02922.hp2 HG02976.hp1 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19059.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0003g0002 others(56): Show a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0075 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252	71	386	0.1839	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(170): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCTCTGTCAGGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCC CCACTGTCACGGCCTCGGCCACTCCCCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	386	0.0026	177	c.483 others(192): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCCTGACAGAGGGG AGTGGCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
STK32B_chr4_5046480_5505989	5317163	T T	TATATATA others(170): Show TATATATAACATATATATAACATATATATTACATATATATTACATATATA TAACATATATATAACATATATATAACATATATATATAACATATATATAAC ATATATATAACATATATATAACATATATATAACATATATATAACATATAT ATAACATATATAACATATATAACATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	170	0.0059	177	c.261 others(196): Show c.261-14043_261-14042insTATAACATATATATTACATATATATT ACATATATATAACATATATATAACATATATATAACATATATATATAACAT ATATATAACATATATATAACATATATATAACATATATATAACATATATAT AACATATATATAACATATATAACATATATAACATATAATATATAACATAT A	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STOML3_chr13_38960925_38995831	38988444	T T	TTATATTT others(170): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA TATATTTTATATATAATATATTATATTTTATATCATATATTTTATATATA ATATATTATATTTTATATCATATATTTTATATATAATATATTTTATATAA TATATTTTATATCATATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	177	c.52+ others(192): Show c.52+2225_52+2226insTGATATAAAATATATGATATAAAATATATT ATATAAAATATATTATATATAAAATATATGATATAAAATATAATATATTA TATATAAAATATATGATATAAAATATAATATATTATATATAAAATATATG ATATAAAATATAATATATTATATATAAAATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	408	0.0025	177	c.-19 others(188): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0014 a0001c0001t0013g0014	1	408	0.0025	177	c.-19 others(188): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19068.hp2 HG00408.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0006g0244 a0001c0001t0001g0003 a0001c0001t0006g0244	2	408	0.0049	177	c.-19 others(188): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(44): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02040.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG03239.hp2 HG03834.hp1 HG03942.hp2 NA18940.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18961.hp2 NA18966.hp1 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA19002.hp2 NA19005.hp2 NA19058.hp2 NA19068.hp1 NA19077.hp1 NA19084.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(20): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0005c0004t0005	a0001c0001t0004g0071 a0001c0001t0005g0059 a0001c0001t0005g0077 others(35): Show a0001c0001t0004g0071 a0001c0001t0005g0059 a0001c0001t0005g0077 a0001c0001t0005g0080 a0001c0001t0008g0016 a0001c0001t0008g0089 a0001c0001t0008g0105 a0001c0001t0011g0028 a0001c0001t0011g0030 a0001c0001t0011g0065 a0001c0001t0012g0034 a0001c0001t0019g0032 a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0020g0015 a0001c0001t0020g0069 a0001c0001t0020g0259 a0001c0001t0021g0010 a0001c0001t0021g0111 a0001c0001t0026g0018 a0001c0001t0026g0108 a0001c0001t0030g0017 a0001c0001t0031g0035 a0001c0001t0031g0103 a0001c0001t0032g0025 a0001c0001t0033g0033 a0001c0001t0033g0100 a0001c0001t0045g0031 a0001c0001t0048g0036 a0001c0001t0049g0026 a0001c0001t0050g0107 a0001c0001t0050g0109 a0001c0001t0066g0094 a0001c0001t0067g0088 a0001c0001t0068g0095 a0001c0001t0069g0062 a0001c0001t0070g0066 a0005c0004t0005g0064	47	408	0.1152	177	c.-19 others(188): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGTGGTC others(170): Show GGGTGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0104 a0001c0001t0047g0104	1	408	0.0025	177	c.-19 others(188): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCACC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SYCE3_chr22_50546112_50567919	50562562	A A	AGGCGGGG others(170): Show AGGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAGGGGTGAGGCGGGGT CAGGAGGGGTGAGGGGTGAGGGGCGAGGCGGGGTGAGGGGTGAGGGGTGA GGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTG AGGCGGGGTGAGGGGTGAGGGGTGAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	414	0.0024	177	c.-1+ others(190): Show c.-1+295_-1+296insGCCTCACCCCTCACCCCTCACCCCGCCTCACC CCTCACCCCGCCTCACCCCTCACCCCGCCTCACCCCTCACCCCGCCTCAC CCCTCACCCCTCACCCCGCCTCGCCCCTCACCCCTCACCCCTCCTGACCC CGCCTCACCCCTCACCCCTCACCCCGCCTCACCCCTCACCCCGCC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar
SYTL4_chrX_100669491_100737121	100724023	T T	TCAGCCCC others(170): Show TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCTC TGCCCGGCCGCCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGCCTGGGAGGGAGGTGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 NA18522.hp1 others(1): Show HG02886.hp2 HG03130.hp1 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0010 a0002c0003t0013 a0002c0003t0003 a0002c0003t0010 a0002c0003t0013	a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0010g0019 others(1): Show a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0010g0019 a0002c0003t0013g0169	4	285	0.0140	177	c.-24 others(196): Show c.-240+7394_-240+7395insGCCCCCCCCACCTCCCTCCCAGGCGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGG CAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT G	SYTL4	ENSG00000102362.16	transcript	ENST00000372989.6	protein_coding	2/19			chrX	TogoVar
TAF4_chr20_61969798_62070881	61982644	A A	ACCCACCC others(170): Show ACCCACCCGAGAGGAGACACCAAACCCACACCCCACCCGAGAGGAGACAC CAAACCCACACCCACCCGAGAGGAGACACCAAACCCACACCCACCCGAGA GGAGACACCAAACCCACACCCCACCCGAGAGGAGACACCAAACCCACACC CACCCGAGAGGAGACACCAAACCCACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(61): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01258.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG03239.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19066.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0001c0013 a0001c0016 others(6): Show a0001c0001 a0001c0013 a0001c0016 a0002c0007 a0002c0036 a0003c0006 a0003c0031 a0009c0033 a0011c0018	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0001c0016t0001 a0002c0007t0001 a0002c0036t0001 a0003c0006t0001 a0003c0006t0011 a0003c0031t0001 a0009c0033t0001 a0011c0018t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(61): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0013t0001g0312 a0001c0013t0001g0313 a0001c0013t0001g0314 a0001c0016t0001g0302 a0001c0016t0001g0303 a0002c0007t0001g0014 a0002c0007t0001g0015 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0018 a0002c0036t0001g0311 a0003c0006t0001g0293 a0003c0006t0001g0294 a0003c0006t0001g0295 a0003c0006t0001g0297 a0003c0006t0001g0298 a0003c0006t0001g0299 a0003c0006t0001g0301 a0003c0006t0011g0300 a0003c0031t0001g0296 a0009c0033t0001g0305 a0011c0018t0001g0009	64	314	0.2038	177	c.309 others(196): Show c.3091-6310_3091-6309insGTGTGGGTTTGGTGTCTCCTCTCGGG TGGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGGGTTTGGTGTCT CCTCTCGGGTGGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGTGTGGGTT TGGTGTCTCCTCTCGGGTGGGGTGTGGGTTTGGTGTCTCCTCTCGGGTGG G	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TENT5A_chr6_81740730_81757681	81740909	A A	ATATAATA others(170): Show ATATAATATGTATCATATTATATACTATATAATATGTATCATATTATATA CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TAGTATATAATATGTATCATATTATATAGTATATAATATGTATATTATAT ACTATATAATGTGTATCATATTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0033 a0003c0003t0018g0033	1	446	0.0022	177	c.87 others(188): Show c.8785_*8786insGTATATAATATGATACACATTATATAGTATATAA TATACATATTATATACTATATAATATGATACATATTATATACTATATAAT ATGATACATATTATATAGTATATAATATGATACATATTATATAGTATATA ATATGATACATATTATATAGTATATAATATGATACATATTATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4820		chr6	TogoVar
TERT_chr5_1248167_1300068	1272767	G G	GACCGCCA others(170): Show GACCGCCATCCACAGTCACCACACATCAGACCCCCGTGACCGACCGCCAT CCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	392	0.0026	177	c.228 others(194): Show c.2287-488_2287-487insTGTGGGGGTCTGATGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGGTCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEM4_chr1_151865866_151914511	151867582	C C	CTCCTCCT others(170): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	374	0.0027	177	c.73 others(188): Show c.7305_*7306insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3283		chr1	TogoVar
THSD4_chr15_71110471_71788383	71199920	T T	TGTGGTGT others(170): Show TGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATG TGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTG TGATGCACGTGTGGGGTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTG GGGTGTGTGTGTGTGGTGCATGTGTGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0015 a0001c0009t0006g0015	1	116	0.0086	177	c.100 others(196): Show c.100-15112_100-15111insGTGTGTGTGTGTAGTGTGTGTGTAGT GTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTG CTGTGTGTGTGCTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGTGTG CTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGGTGCATGTGTGGGGT G	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIAM2_chr6_154990315_155262723	155029448	G G	GTATATAT others(170): Show GTATATATAATATATACTATATATTATATATAATATATACTATATATTAT ATATAATATATAGTATATATTATATATAATATATACTATATATTATATAT AATATATACTATATATTATATATAATATATACTATATATTATATATAATA TATACTATATATTATATATAATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	230	0.0044	177	c.-20 others(198): Show c.-209+33963_-209+33964insAATATATACTATATATTATATATA ATATATACTATATATTATATATAATATATAGTATATATTATATATAATAT ATACTATATATTATATATAATATATACTATATATTATATATAATATATAC TATATATTATATATAATATATACTATATATTATATATAATATATACTATA TAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029448	G G	GTATATAT others(170): Show GTATATATAATATATACTATATATTATATATAATATATAGTATATATTAT ATATAATATATACTATATATTATATATAATATATACTATATATTATATAT AATATATACTATATATTATATATAATATATACTATATATTATATATAATA TATACTATATATTATATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp2 HG03490.hp1 others(4): Show HG02897.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 NA19001.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0036 a0001c0004t0006	a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0003g0101 others(4): Show a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0003g0101 a0001c0002t0009g0097 a0001c0002t0013g0186 a0001c0002t0036g0217 a0001c0004t0006g0210	7	230	0.0304	177	c.-20 others(198): Show c.-209+33963_-209+33964insAATATATACTATATATTATATATA ATATATAGTATATATTATATATAATATATACTATATATTATATATAATAT ATACTATATATTATATATAATATATACTATATATTATATATAATATATAC TATATATTATATATAATATATACTATATATTATATATAATATATACTATA TAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029448	G G	GTATATAT others(170): Show GTATATATAATATATACTATATATTATATATAATATATAGTATATATTAT ATATAATATATAGTATATATTATATATAATATATACTATATATTATATAT AATATATACTATATATTATATATAATATATACTATATATTATATATAATA TATAGTATATATTATATATAATATATAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	230	0.0044	177	c.-20 others(198): Show c.-209+33963_-209+33964insAATATATACTATATATTATATATA ATATATAGTATATATTATATATAATATATAGTATATATTATATATAATAT ATACTATATATTATATATAATATATACTATATATTATATATAATATATAC TATATATTATATATAATATATAGTATATATTATATATAATATATACTATA TAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029448	G G	GTATATAT others(170): Show GTATATATAATATATAGTATATATTATATATAATATATAGTATATATTAT ATATAATATATACTATATATTATATATAATATATAGTATATATTATATAT AATATATAGTATATATTATATATAATATATACTATATATTATATATAATA TATACTATATATTATATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0029 a0001c0004t0002g0029	1	230	0.0044	177	c.-20 others(198): Show c.-209+33963_-209+33964insAATATATAGTATATATTATATATA ATATATAGTATATATTATATATAATATATACTATATATTATATATAATAT ATAGTATATATTATATATAATATATAGTATATATTATATATAATATATAC TATATATTATATATAATATATACTATATATTATATATAATATATACTATA TAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar

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