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
RNASE10_chr14_20500537_20518884	20505258	T T	TCCTCTCC others(187): Show TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0053 a0002c0002t0040g0053	1	382	0.0026	194	c.-76 others(203): Show c.-767_-766insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		278		chr14	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(187): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCC GGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGG GGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGC CGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG03540.hp2 HG02109.hp2 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0036 a0001c0002t0006 a0001c0001t0036 a0001c0002t0006	a0001c0001t0036g0161 a0001c0002t0006g0162 a0001c0002t0006g0163 a0001c0001t0036g0161 a0001c0002t0006g0162 a0001c0002t0006g0163	3	90	0.0333	194	c.-36 others(209): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTG CGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCG CCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCC GCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(187): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGCGG GGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGA GTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGA CGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0170 a0001c0001t0008g0170	1	88	0.0114	194	c.-36 others(209): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGC ACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGA CGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCC GCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	295340	A A	AGCTGCAG others(187): Show AGCTGCAGAAATGGACGGGCAGAGGAAATGCACATCAGTGTGGGAGGGAC AGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGA TGGACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGTAGAA ATGGAAAGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01358.hp1 HG02738.hp1 others(3): Show HG00408.hp2 HG01358.hp1 HG02738.hp1 HG03453.hp2 NA18951.hp2 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0007c0014t0018	a0001c0001t0001g0079 a0001c0001t0002g0028 a0001c0001t0003g0096 others(3): Show a0001c0001t0001g0079 a0001c0001t0002g0028 a0001c0001t0003g0096 a0001c0001t0012g0006 a0001c0002t0002g0038 a0007c0014t0018g0102	6	124	0.0484	194	c.352 others(213): Show c.352-13487_352-13486insATCTCTGTCCCTCCCACACTGATGTG CATTCCCTCTGCTTTCCATTTCTACAGCATCTGTGTCCCTCCCACACTGA TGTGCATTCCCTCTGTCCATCCATTTCTGCAGCTCCTCTGTCCCTCCCAC ACTGATGTGCATTCCCTCTGTCCCTCCCACACTGATGTGCATTTCCTCTG CCCGTCCATTTCTGCAGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	295340	A A	AGCTGCAG others(187): Show AGCTGCAGAAATGGACGGGCAGAGGGAATGCACATCAGTGTGGGAGGGAC AGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGA TGGACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGCAGAA ATGGACAGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	119	0.0084	194	c.352 others(213): Show c.352-13487_352-13486insATCTCTGTCCCTCCCACACTGATGTG CATTCCCTCTGCTGTCCATTTCTGCAGCATCTGTGTCCCTCCCACACTGA TGTGCATTCCCTCTGTCCATCCATTTCTGCAGCTCCTCTGTCCCTCCCAC ACTGATGTGCATTCCCTCTGTCCCTCCCACACTGATGTGCATTCCCTCTG CCCGTCCATTTCTGCAGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCTTCC others(187): Show ATCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0059 a0003c0003t0059	a0003c0003t0059g0196 a0003c0003t0059g0196	1	267	0.0037	194	c.-15 others(205): Show c.-1536_-1535insTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(187): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02615.hp1 NA18956.hp2 HG01169.hp1 HG02615.hp1 NA18956.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0008 a0003c0003t0083 a0002c0002t0002 a0003c0003t0008 a0003c0003t0083	a0002c0002t0002g0123 a0003c0003t0008g0119 a0003c0003t0083g0079 a0002c0002t0002g0123 a0003c0003t0008g0119 a0003c0003t0083g0079	3	253	0.0119	194	c.-15 others(205): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(187): Show ATGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATAT TGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATGT GTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGT CATATATATCTGTCATATATGTGTCATATATATCTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	58	0.0172	194	c.-25 others(205): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATGTCATATAT ATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATAT ATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATATATATCT GTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RXRA_chr9_134321455_134445585	134369015	G G	GGGGGGGT others(187): Show GGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGGGTTATGTG TGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGT TATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGA GTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	226	0.0044	194	c.29- others(211): Show c.29-32600_29-32599insGGGGGGGTTATGTGTGTATGGGGGGTTA TGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCG GGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGT GTGAGTGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGTG GGGGGTTATGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SARDH_chr9_133658560_133743352	133668711	T T	TCCCCTCA others(187): Show TCCCCTCATCCTCCCTCTCCCGCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCTCTCC CCTCACCCTCCTCTCCCTCACCTCCCTCTCCCCTCACCTCCCTCTCCCTC ACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0062 a0002c0034t0002g0062	1	187	0.0053	194	c.249 others(213): Show c.2496-1842_2496-1841insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGTGAGGGGAGAGGGAGGT GAGGGAGAGGAGGGTGAGGGGAGAGGAGGGTGAGGGAGAGGGAGGGTGAG GGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGCGG GAGAGGGAGGATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088155	C C	CATACATA others(187): Show CATACATATTTATACATATATATGTATAAATACATACATATTTATACATA TATATGTATAAATACATACATATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATATACATATATGTATAAATATATATGTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01167.hp1 others(15): Show HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0001 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058	18	211	0.0853	194	c.42 others(205): Show c.4235_*4236insATGTATACATATATATTTATACATATATGTATAT GTATTTATACATATATATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTAT TTATACATATATATGTATAAATATGTATGTATTTATACATATATATGTAT AAATATGTAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4128		chrX	TogoVar
SCGB1C1_chr11_188078_199575	196111	A A	ACATAGGG others(187): Show ACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGG AGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01074.hp2 others(7): Show HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01261.hp1 HG01361.hp2 HG03139.hp2 NA18969.hp2 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0001 a0001c0004t0001g0009	10	354	0.0282	194	c.16 others(205): Show c.1661_*1662insCATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGG GGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1537		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(187): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGA CATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGA GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00597.hp1 others(57): Show HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02074.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02818.hp2 HG03490.hp1 HG03710.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19066.hp2 NA19077.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0001 a0002c0001t0002g0001 a0001c0002t0002g0001 a0002c0001t0002g0001	60	260	0.2308	194	c.16 others(205): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGG GACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGT GGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289579	T T	TCCCCCGT others(187): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	241	0.0041	194	c.166 others(211): Show c.1663-689_1663-688insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192612	G G	GTATATAT others(187): Show GTATATATATATACGTATATATATATATACGTATATATATATATATACGT GTATATATATATACGTATATATATATACGTGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATATATACGTGTATATATATATAC GTGTATATATATATATATATACGTGTATATATATATACGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp2 NA18522.hp2 HG02109.hp1 HG02559.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0042 a0002c0002 a0002c0042	a0002c0002t0004 a0002c0002t0029 a0002c0042t0004 a0002c0002t0004 a0002c0002t0029 a0002c0042t0004	a0002c0002t0004g0177 a0002c0002t0029g0007 a0002c0042t0004g0242 a0002c0002t0004g0177 a0002c0002t0029g0007 a0002c0042t0004g0242	3	118	0.0254	194	c.11 others(207): Show c.11384_*11385insTATACACGTATATATATATACACGTATATATA TATATATATACACGTATATATATATACACGTATATATATATATATATACA CGTATATATATATATACGTATATATATATATACACGTATATATATATACG TATATATATATACACGTATATATATATATATACGTATATATATATATACG TATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4667		chr22	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(187): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0164 a0001c0005t0004g0037 a0001c0005t0001g0164 a0001c0005t0004g0037	2	260	0.0077	194	c.453 others(213): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353334	A A	AAAGGAAA others(187): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGA AAGGGAAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAA AGGAAGGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAA AGGGAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0051 a0001c0005t0001g0051	1	130	0.0077	194	c.125 others(213): Show c.125-15523_125-15522insCCCTTTCCTTTCCTTTCCTTTCCTTT TCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCT TCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTC CCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(187): Show ATATTGTATATTGTATATTATATAATATATTGTATATTATATAATATATT GTATATTATATATAATATATTGTATATTATATATAATATATTGTATATTA TATATTATATAATATATTGTATATTATATATTATATAATATATTGTATAT TATATATTATATAATATATTGTATATTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0178 a0001c0003t0007g0183 a0001c0003t0007g0178 a0001c0003t0007g0183	2	324	0.0062	194	c.-15 others(205): Show c.-1544_-1543insCAATATATTATATAATATAATATACAATATATTA TATAATATATAATATACAATATATTATATAATATATAATATACAATATAT TATATAATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATATTATATAATATACAATATATTATATAATATACA ATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(187): Show ATATTGTATATTGTATATTATATAATATATTGTATATTATATAATATATT GTATATTATATATAATATATTGTATGTTATATATAATATATTGTATATTA TATATTATATAATATATTGTATATTATATATTATATAATATATTGTATAT TATATTATATAATATATTGTATATTATATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0180 a0001c0003t0009g0180	1	323	0.0031	194	c.-15 others(205): Show c.-1544_-1543insCAATATATTATATAATATATAATATACAATATAT TATATAATATAATATACAATATATTATATAATATATAATATACAATATAT TATATAATATATAATATACAATATATTATATATAACATACAATATATTAT ATATAATATACAATATATTATATAATATACAATATATTATATAATATACA ATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(187): Show TATATATATATATATTATATATACGTATATATATATAATATATATATATT ATATATACGTATATATAATATATATATATTATATATACGTATATATAATA TATATATTATATATACGTATATATATACGTATATATAATATATATATTAT ATATACGTATATATAATATATATATATTATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp1 HG02486.hp1 others(2): Show HG02280.hp2 HG02300.hp1 HG02486.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0032 a0001c0001t0099	a0001c0001t0001g0170 a0001c0001t0004g0169 a0001c0001t0014g0168 others(2): Show a0001c0001t0001g0170 a0001c0001t0004g0169 a0001c0001t0014g0168 a0001c0001t0032g0271 a0001c0001t0099g0167	5	237	0.0211	194	c.567 others(209): Show c.567+219_567+220insTATATATACGTATATATAATATATATATAT TATATATACGTATATATAATATATATATTATATATACGTATATATATACG TATATATAATATATATATTATATATACGTATATATAATATATATATATTA TATATACGTATATATAATATATATATATTATATATATATACGTATATATA ATATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAAGAAGA others(187): Show GAAGAAGAAAGAAAGAGAAAGAAAGAGAGAGAAAGGAAGGAAGGAAGGAA GGAAGGAGGGAAGAGAGGGGTGGGGGAAGGAGGGAGGAAGGGAGGGAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGGAAAGACAAAGAGAGAGAGAGAA AGAAAGGAAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	270	0.0037	194	c.118 others(213): Show c.1182+4858_1182+4859insTTCTTTCTTTCTTTCTTTCTTCCTTC CTTCCTTCCTTTCCTTTCTTTCTCTCTCTCTCTTTGTCTTTCCCTTCCTT CCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCTTCCCCCAC CCCTCTCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTTTCT TTCTCTTTCTTTCTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(187): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCCTTCC CCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	76	0.0132	194	c.691 others(213): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCT TCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(187): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp1 HG02683.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0069 a0001c0001t0011 a0001c0003t0069	a0001c0001t0011g0155 a0001c0003t0069g0172 a0001c0001t0011g0155 a0001c0003t0069g0172	2	77	0.0260	194	c.691 others(213): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCT TCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(187): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 NA19043.hp2 HG01074.hp1 HG01099.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0055 a0001c0001t0088 a0001c0001t0010 a0001c0001t0055 a0001c0001t0088	a0001c0001t0010g0133 a0001c0001t0055g0118 a0001c0001t0088g0018 a0001c0001t0010g0133 a0001c0001t0055g0118 a0001c0001t0088g0018	3	78	0.0385	194	c.691 others(213): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCT TCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(187): Show TTTCCCTTCCCTTCCTTTCCTTCCCTTCCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTACTTCCCCTTCCCCTTCCC CTTCTCCCTTCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0005	1	76	0.0132	194	c.691 others(213): Show c.691+99150_691+99151insTTTCCTTCCCTTCCCTCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTACTTCCCCTT CCCCTTCCCCTTCTCCCTTCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	628682	T T	TCTGTCTG others(187): Show TCTGTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCCTCTCTCTCCCTGTC TGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTC TCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATC TGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCTCCCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01884.hp1 HG01891.hp2 others(4): Show HG01517.hp1 HG01884.hp1 HG01891.hp2 HG06807.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0025 a0001c0001t0052 a0001c0001t0059 a0001c0001t0095 a0001c0001t0139	a0001c0001t0001g0067 a0001c0001t0022g0118 a0001c0001t0025g0117 others(4): Show a0001c0001t0001g0067 a0001c0001t0022g0118 a0001c0001t0025g0117 a0001c0001t0052g0090 a0001c0001t0059g0087 a0001c0001t0095g0133 a0001c0001t0139g0089	7	193	0.0363	194	c.-22 others(205): Show c.-2216_-2215insCTGTCTGTCTCTCTCTTTCTCTCTCTATCTCTCC CTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGT CTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGT TTCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCTCC CTCTCTCTCC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2108		chrX	TogoVar
SIGIRR_chr11_400716_419999	401842	C C	CCCCCCGA others(187): Show CCCCCCGACCCGCTCACACCCGGGCCCCCGACCCGCTCACCCCGGGCCCC CGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCCT CACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCC CCCGACCCGCTCACCCGGACCCGCTCACACGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	238	0.0042	194	c.40 others(205): Show c.4053_*4054insTGTGAGCGGGGTCCCGTGTGAGCGGGTCCGGGTG AGCGGGTCGGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCG GGTCGGGGGTGAGGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGGCCCGGGGTGAGCGGGTCGGGGGCCCGGGTGTGAGC GGGTCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3873		chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(187): Show GTATATATATATATATATATATACTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18942.hp1 NA18944.hp1 others(3): Show HG02129.hp1 NA18942.hp1 NA18944.hp1 NA18957.hp2 NA18994.hp2 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0002 a0001c0002t0002 a0003c0005t0002	a0001c0002t0002g0068 a0001c0002t0002g0190 a0003c0005t0002g0165 others(3): Show a0001c0002t0002g0068 a0001c0002t0002g0190 a0003c0005t0002g0165 a0003c0005t0002g0249 a0003c0005t0002g0250 a0003c0005t0002g0251	6	171	0.0351	194	c.240 others(213): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270752	A A	ATATATAT others(187): Show ATATATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTAT ATATATATATATTTATACACACATATATATACATACACATATATATATAC ACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	236	0.0042	194	c.240 others(213): Show c.2402+1018_2402+1019insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072755	C C	CCCCCAGC others(187): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	109	0.0092	194	c.224 others(211): Show c.2241+877_2241+878insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(187): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCTCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	97	0.0103	194	c.224 others(211): Show c.2241+691_2241+692insGCGTTAAGTGTGATGCCGTGTGCTGGAG GCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGG GGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATA AGTGTGATGCCGTGTGCTGGAGGCTCACTGGGGGCTGCATAAGTGTGATG CCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747349	C C	CGGGGCAG others(187): Show CGGGGCAGGGGGTGAGCAGGGCCAGGTGGAGGTTGGAAGAGGGGGCAGGG GGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGG GCCTGGTGGAGGTCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTTGG GGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	2	235	0.0085	194	c.43 others(205): Show c.4359_*4360insGGGGCAGGGGGTGAGCAGGGCCAGGTGGAGGTTG GAAGAGGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGC CAGGGGGTGAGCAGGGCCTGGTGGAGGTCGGGGGGGCAGGGGGTGAGCAG GGCCTGGTGGGTTGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGAG GTTGGAAGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3300		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(187): Show CCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGGGGGGCAGGGGGTG AGCAGGGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCAGGGCCCGGTG GAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGG GGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	179	0.0056	194	c.45 others(205): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAG GGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGGGGGT GAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGCCAGGGGGTGAGCAGGGCC TGGTGGAGGTGGGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTTGGG GTGGGGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC45A4_chr8_141202174_141313288	141203366	A A	AGAGAGAG others(187): Show AGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAG GGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAG AGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	178	0.0056	194	c.82 others(205): Show c.8205_*8206insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTC TCCCTCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGG TCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3807		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(187): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	358	0.0028	194	c.152 others(211): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAGAGAAAGAGA GAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(187): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	358	0.0028	194	c.152 others(211): Show c.152-2710_152-2709insGAAAGAAAGAAAGAGAGAAAGAGAGAAA GAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(187): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATATATAAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0100 a0002c0003t0002g0100	1	139	0.0072	194	c.151 others(213): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATATTATATATAATATATATAAAA TATATATATTATATATAATATATATAAAATATATATATATAAAAAATATA TATTATATAATATATATAAAATATATATATTATATAATATATATATATAT AAAATATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT2_chr4_20246905_20625561	20472593	T T	TATAGATA others(187): Show TATAGATATATCTATATAGATATAGATATATCTATATAGATATATATAGA TATATCTATATATATCGATATATATCGATATATATAGATATATCGATATA TAGATATATCTATATATATCGATATATATCGATATATCTATATATATCGA TATATATAGATATATCTATATATATCGATATATCTATATATATCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	155	0.0065	194	c.467 others(211): Show c.467+4773_467+4774insGATATATCTATATAGATATAGATATATC TATATAGATATATATAGATATATCTATATATATCGATATATATCGATATA TATAGATATATCGATATATAGATATATCTATATATATCGATATATATCGA TATATCTATATATATCGATATATATAGATATATCTATATATATCGATATA TCTATATATATCGATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(187): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCTGGACTCCAGTTCTCCTCCTTGG ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp1 HG01081.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0111 a0001c0001t0001g0114	2	61	0.0328	194	c.72+ others(211): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCTGG ACTCCAGTTCTCCTCCTTGGACCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCC CCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221747	C C	CTGCCTCT others(187): Show CTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCT CTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18522.hp2 HG01257.hp2 NA18522.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0059 a0003c0008t0001g0105 a0003c0008t0001g0059 a0003c0008t0001g0105	2	164	0.0122	194	c.719 others(213): Show c.719+12519_719+12520insCCTCTGTCTCTCTCTTTGTCCCTCTC TGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCC TCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTC TCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCC TTTCAGTCTCTGGTTTTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORBS2_chr4_185580523_185817194	185731449	C C	CCTCCCTC others(187): Show CCTCCCTCCCTCCCTGCCTGTCTCTCTCCCTCCCTCCCTGCCTGTCTCTC TCCCTCCCTCCCTGCCTGTCTCTCTCCCTCCCTCCCTGCCTGTCTCTCTC CCTCCCTCCCTGCCTATCTCTCTCCCCCTCCCTCTCTCCCTGCCTCTCTC CCTCCCTCCCTGCCTGTCTCTCTCCCTCCCTCCCTGCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0001c0013 others(1): Show a0001c0001 a0001c0007 a0001c0013 a0004c0016	a0001c0001t0035 a0001c0007t0044 a0001c0013t0007 others(1): Show a0001c0001t0035 a0001c0007t0044 a0001c0013t0007 a0004c0016t0021	a0001c0001t0035g0002 a0001c0007t0044g0012 a0001c0013t0007g0093 others(2): Show a0001c0001t0035g0002 a0001c0007t0044g0012 a0001c0013t0007g0093 a0004c0016t0021g0224 a0004c0016t0021g0226	5	303	0.0165	194	c.-41 others(211): Show c.-41+2649_-41+2650insAGAGACAGGCAGGGAGGGAGGGAGAGAG ACAGGCAGGGAGGGAGGGAGAGAGGCAGGGAGAGAGGGAGGGGGAGAGAG ATAGGCAGGGAGGGAGGGAGAGAGACAGGCAGGGAGGGAGGGAGAGAGAC AGGCAGGGAGGGAGGGAGAGAGACAGGCAGGGAGGGAGGGAGAGAGACAG GCAGGGAGGGAGGGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCCTCCC others(187): Show CCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTT CCTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCCTCC CTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0001 a0001c0003t0010g0001	1	66	0.0152	194	c.548 others(213): Show c.548+52880_548+52881insCTCCCTCCCTCCCTTCCTCCCTCTCT TCCTCCCTCCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTCCCTTCCTCCC TCTCTTCCTCCCTCCCTCCCTCCTCCTCCCTCCCTCCCTCCCTCCTCCCT CCCTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTCCCTC CCTCCCTCCCTCCCTTCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35913788	T T	TGGTGTGT others(187): Show TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCGG TGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	418	0.0024	194	c.30 others(205): Show c.3097_*3098insGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTG TGTTTTTGTATGCGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGT TTTTGTATGC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2103		chr9	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(187): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG03704.hp1 HG00323.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0004g0005 a0001c0001t0001g0003 a0001c0001t0004g0005	2	19	0.1053	194	c.54 others(205): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(187): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	194	c.54 others(205): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(187): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	194	c.54 others(205): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(187): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02135.hp1 HG02451.hp2 others(5): Show HG02015.hp1 HG02135.hp1 HG02451.hp2 NA18942.hp1 NA19000.hp2 NA19003.hp1 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0007t0001g0033 a0001c0001t0001g0001 a0001c0007t0001g0033	8	25	0.3200	194	c.54 others(205): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(187): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01515.hp2 HG01517.hp2 others(3): Show HG00544.hp2 HG01515.hp2 HG01517.hp2 NA18747.hp2 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0001g0001 a0001c0001t0004g0005	6	23	0.2609	194	c.54 others(205): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(187): Show TATATTATATATAATATATAATATATTATATATAATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATAATATATTATATATAATATATTATATATTATATATTATATATTATAT AATATATAATATATTATATATAATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0089 a0001c0001t0009g0089	1	103	0.0097	194	c.233 others(213): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATAATATATAATATATAATATATAATATA TTATATATAATATATTATATATTATATATAATATATTATATATTATATAT AATATATAATATATTATATATAATATATAATATATTATATATAATATATT ATATATTATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SRXN1_chr20_641615_658200	641937	T T	TGGGGGGG others(187): Show TGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18983.hp2 NA18993.hp2 others(2): Show NA18966.hp2 NA18983.hp2 NA18993.hp2 NA19012.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0001 a0001c0001t0002g0060 a0001c0001t0002g0064	5	351	0.0142	194	c.67 others(205): Show c.6776_*6777insCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4677		chr20	TogoVar

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