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
RPEL1_chr10_103240887_103253016	103251152	C C	CCATCACC others(185): Show CCATCACCACACCACCACCTCCACCACCATCATCACCACCACATCACCAC CACCACCACCATCACCTCCACCATCACCACCTCCACTACCACCACACCAC CTCCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCA CCATCACCACCATCACCACCAACACCACCATCACCACCACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	242	0.0041	192	c.44 others(203): Show c.4469_*4470insCATCACCACACCACCACCTCCACCACCATCATCA CCACCACATCACCACCACCACCACCATCACCTCCACCATCACCACCTCCA CTACCACCACACCACCTCCACCACCACCATCACCACCACCATCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCAACACCACCATCACC ACCACAAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3137		chr10	TogoVar
RPH3AL_chr17_207389_357807	242763	A A	ACCTTCCT others(185): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	106	0.0094	192	c.613 others(209): Show c.613+4347_613+4348insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287653	G G	GCACCCTC others(185): Show GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTC CACCGTCAGACCTCACACCCTCTCTCTCCACCGTCAGACCTCA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0058 a0001c0001t0037g0058	1	126	0.0079	192	c.352 others(209): Show c.352-5800_352-5799insTGAGGTCTGACGGTGGAGAGAGAGGGTG TGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGAGGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	353520	T T	TCAAACTG others(185): Show TCAAACTGGGTTCCAAGGAGCCGGGGTGTGGAGCCCCTCTTCAGGACTGT GCAGGTGAAGCAGGGGGCTGGGAACAAGGGGGTTATTACAGCCCAACAAA CTGGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAGGACTGTACAG GCGAAGCAAGGGGCTGGGAACAAGGCCGGTTATTATAACCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01515.hp2 others(21): Show HG00140.hp1 HG00544.hp2 HG01515.hp2 HG01978.hp2 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG03831.hp1 HG04184.hp2 NA18612.hp1 NA18940.hp2 NA18983.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19056.hp2 NA19074.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0012 a0003c0005 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0034 a0001c0002t0002 a0001c0002t0003 a0001c0004t0004 a0001c0004t0026 a0001c0006t0004 a0002c0012t0005 a0003c0005t0005 a0004c0013t0003	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0040 others(21): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0002g0031 a0001c0001t0003g0034 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0007g0032 a0001c0001t0008g0042 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0014g0023 a0001c0001t0014g0025 a0001c0001t0015g0037 a0001c0001t0015g0041 a0001c0001t0034g0018 a0001c0002t0002g0038 a0001c0002t0003g0033 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0006t0004g0022 a0002c0012t0005g0020 a0003c0005t0005g0035 a0004c0013t0003g0036	24	92	0.2609	192	c.-10 others(203): Show c.-1022_-1021insTTGGGTTATAATAACCGGCCTTGTTCCCAGCCCC TTGCTTCGCCTGTACAGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTT GGAACCCAGTTTGTTGGGCTGTAATAACCCCCTTGTTCCCAGCCCCCTGC TTCACCTGCACAGTCCTGAAGAGGGGCTCCACACCCCGGCTCCTTGGAAC CCAGTTTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		714		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476222	G G	GCAGCGCG others(185): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCC AGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAG CGCGGCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	372	0.0027	192	c.-26 others(203): Show c.-2663_-2662insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCGCAGCGCGGCTGCCCCCTTACCTCCCAGCGCGCCTGCCC CCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2637		chr17	TogoVar
RSU1_chr10_16585611_16822424	16645877	T T	TGTATATA others(185): Show TGTATATATACATATATATACACATATATGTATATATACATATATGTATA TATACATATATATACACATATATGTATATATACATATATGTATATATACA TATATACACATATATGTATATATACGTATATACACATATATGTATATATA CATATATGTATATATACGTATATACACATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG01243.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0049 a0001c0001t0017g0006 a0001c0001t0004g0049 a0001c0001t0017g0006	2	188	0.0106	192	c.731 others(211): Show c.731+49145_731+49146insGTATATATACATATATGTGTATATAC GTATATATACATATATGTATATATACATATATGTGTATATACGTATATAT ACATATATGTGTATATATGTATATATACATATATGTATATATACATATAT GTGTATATATATGTATATATACATATATGTATATATACATATATGTGTAT ATATATGTATATATAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTL4_chrX_112078016_112462514	112419584	T T	TATATATA others(185): Show TATATATATATATTTACATATGTATATGTATATATATATATATTTACATA TGTATATGTATATATATATTTACATATGTATATGTATATATATATTTACA TATGTATATGTATATATATATTTACATATGTATATGTATATATATTTACA TATGTATATGTATATATATATATATTTACATATGTATATGTAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp1 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0110 a0001c0002t0002g0112	2	132	0.0152	192	c.-28 others(213): Show c.-284-11520_-284-11519insATTTACATATGTATATGTATATAT ATATATATTTACATATGTATATGTATATATATATTTACATATGTATATGT ATATATATATTTACATATGTATATGTATATATATATTTACATATGTATAT GTATATATATTTACATATGTATATGTATATATATATATATTTACATATGT ATATGTAAATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(185): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01361.hp1 NA19089.hp1 HG00544.hp1 HG01361.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0029	3	302	0.0099	192	c.48 others(203): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159680705	T T	TATAATAT others(185): Show TATAATATATGTATATATAATATACATATATTATATATGTATATATATAC ATATATAATATATGTGTATATATATATACATATATAATATATGTATATAT AATATACATATATAATATATGTATATATATATACATATATAATATATGTA TATATATATAATATACATATATTATATATGTATATATAATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03195.hp2 others(2): Show HG01884.hp1 HG02723.hp1 HG03195.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0056	5	81	0.0617	192	c.64- others(209): Show c.64-83738_64-83737insATAATATATGTATATATAATATACATAT ATTATATATGTATATATATACATATATAATATATGTGTATATATATATAC ATATATAATATATGTATATATAATATACATATATAATATATGTATATATA TATACATATATAATATATGTATATATATATAATATACATATATTATATAT GTATATATAATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(185): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0003 a0017c0038t0003	a0017c0038t0003g0282 a0017c0038t0003g0282	1	164	0.0061	192	c.464 others(205): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289147	T T	TCCCGTGT others(185): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	258	0.0039	192	c.166 others(211): Show c.1663-1116_1663-1115insTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCCCGT others(185): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0206 a0001c0009t0001g0206	1	247	0.0040	192	c.166 others(209): Show c.1663-969_1663-968insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCCCGTGT others(185): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0071 a0007c0006t0001g0071	1	260	0.0038	192	c.166 others(209): Show c.1663-921_1663-920insCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCATTCCCCGT GTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289579	T T	TCCCCCGT others(185): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	241	0.0041	192	c.166 others(209): Show c.1663-689_1663-688insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289651	T T	TCCGTGTC others(185): Show TCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCCGTCGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTC CGTCCCCCGTGTCCTGCTCCGTCCCGTGTCTCTGCTCCGCTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	259	0.0039	192	c.166 others(209): Show c.1663-618_1663-617insGTGTCTCTGCTCCGTCCCCGTGTCTCTG CTCCGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC CGTCGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCTGCTCCGTCCCGTGTCT CTGCTCCGCTCCCC	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(185): Show GTATATATATATACGTATATATATATATACGTATATATATATATATACGT GTATATATATATACGTATATATATATACGTGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATATACGTGTATATATATATACGT GTATATATATATATATATACGTGTATATATATATACGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0042 a0002c0002t0004g0042	1	116	0.0086	192	c.11 others(205): Show c.11384_*11385insTATACACGTATATATATATACACGTATATATA TATATATATACACGTATATATATATACACGTATATATATATATATACACG TATATATATATATACGTATATATATATATACACGTATATATATATACGTA TATATATATACACGTATATATATATATATACGTATATATATATATACGTA TATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4667		chr22	TogoVar
SDHA_chr5_213320_262082	261614	T T	TCCGAGCA others(185): Show TCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCAACAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	255	0.0039	192	c.51 others(203): Show c.5194_*5195insCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCAACAGAGCATTACCGTGTGAGCTCCG CCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4533		chr5	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(185): Show TATATATATATATATTATATATACGTATATATATATAATATATATATATT ATATATACGTATATATAATATATATATATTATATATACGTATATATAATA TATATATTATATATACGTATATATATACGTATATATAATATATATTATAT ATACGTATATATAATATATATATATTATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0171 a0001c0001t0014g0171	1	233	0.0043	192	c.567 others(207): Show c.567+219_567+220insTATATATACGTATATATAATATATATATAT TATATATACGTATATATAATATATATTATATATACGTATATATATACGTA TATATAATATATATATTATATATACGTATATATAATATATATATATTATA TATACGTATATATAATATATATATATTATATATATATACGTATATATAAT ATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SH3RF3_chr2_109124205_109509634	109235901	A A	AGCTCACT others(185): Show AGCTCACTGCCCTTACTTTAAGAGGCTGTGGGGTTGGTTTCACCTTGACC TATTATAATATGCATGCTCACTGCCCTTACTTTAAGAGGCTGTGGGGTTG GTTTCACCTTGACCTATTATAATATGCATGCTCACTGCCCTTACTTTAAG AGGCTGTGGGGTTGGTTTCACCTTGACCTATTATAATATGCAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0006 a0003c0020t0006	a0003c0020t0006g0062 a0003c0020t0006g0062	1	169	0.0059	192	c.573 others(213): Show c.573+105862_573+105863insCTTACTTTAAGAGGCTGTGGGGTT GGTTTCACCTTGACCTATTATAATATGCATGCTCACTGCCCTTACTTTAA GAGGCTGTGGGGTTGGTTTCACCTTGACCTATTATAATATGCATGCTCAC TGCCCTTACTTTAAGAGGCTGTGGGGTTGGTTTCACCTTGACCTATTATA ATATGCATGCTCACTGCC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(185): Show CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACACCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	203	0.0049	192	c.39 others(203): Show c.3920_*3921insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGTGAG CGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(185): Show CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	203	0.0049	192	c.39 others(203): Show c.3920_*3921insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGGTGAG CGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(185): Show CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGG CCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	203	0.0049	192	c.39 others(203): Show c.3920_*3921insTGTGAGCGGGGGTCCCGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAG CGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CACTCACA others(185): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCCGACCCGC TCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	171	0.0058	192	c.36 others(203): Show c.3641_*3642insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGCGGGTCGGGGGTGAGCG GGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGC CGGGTGTGAGCGGGTCGGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGG GTGTGAGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CACTCACA others(185): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCT CACACCCGGCCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	171	0.0058	192	c.36 others(203): Show c.3641_*3642insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGCGGGTCGGGGGTGAGCG GGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGG CCGGGTGTGAGCGGGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGG GTGTGAGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CACTCACA others(185): Show CACTCACACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCT CACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CCGGACCCCGCTCACCCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCA GCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	171	0.0058	192	c.36 others(203): Show c.3641_*3642insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCTGGGGTGAGCGGGGCCGGGGTGAGCGGGTCGGGGGGTGAGC GGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGG CCGGGTGTGAGCGGGTCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCCGG GTGTGAGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3461		chr11	TogoVar
SIGIRR_chr11_400716_419999	402287	C C	CCCCGACC others(185): Show CCCCGACCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCCGCTCACAC CCGCCCCGCTCACCCCGGGACCCCGCTCACCCCCGACCCGCTCACCCCGG CCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCC CGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	238	0.0042	192	c.36 others(203): Show c.3608_*3609insAGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGG GTGTGAGCGGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGG TGAGCGGGGCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGTCCCGGGGTGA GCGGGGCGGGTGTGAGCGGGGGCCGGGGGTGAGCGGGGCCGGGTGTGAGC GGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3428		chr11	TogoVar
SIK3_chr11_116838402_117103428	116947120	T T	TATATATA others(185): Show TATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01256.hp2 others(3): Show HG00735.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0007 a0002c0003t0006 a0002c0003t0007	a0002c0003t0006g0343 a0002c0003t0006g0359 a0002c0003t0007g0309 others(3): Show a0002c0003t0006g0343 a0002c0003t0006g0359 a0002c0003t0007g0309 a0002c0003t0007g0315 a0002c0003t0007g0316 a0002c0003t0007g0324	6	315	0.0190	192	c.454 others(209): Show c.454+6923_454+6924insTATATATAAATAATAATTTATATATTAT ATATTATATATAAATAATAATTTATATATTATATATTATATATAAATAAT AATTTATATATTATATATTATATATAAATAATAATTTATATATTATATAT TATATATAAATAATAATTTATATATTATATATTATATATAAATAATAATT TATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(185): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAAATTATTATTTATATATAATATATAATA TATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATA TATAATATATTATATATAAATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18981.hp2 NA19066.hp2 NA18962.hp2 NA18981.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273	3	229	0.0131	192	c.454 others(209): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATAATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(185): Show GTATATATATATATATATATATACTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATAT ATTTATACACACATATATATACATACACATATATATATACACACACACAC AGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0136 a0003c0005t0002g0136	1	166	0.0060	192	c.240 others(211): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATGTATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATA TATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(185): Show GTATATATATATATATATATATACTCTAAGTATTATATATTATATACTCC AAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATAT ATATTTATACACACATATATATACATACACATATATATATACACACACAC ACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0263	1	166	0.0060	192	c.240 others(211): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTGTATAT others(185): Show GTGTATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTATATATATATATATATGTATATAT ATATATATTTATACACACATATATATACATACACATATATATATACACAC ACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0007 a0006c0006t0001g0007	1	166	0.0060	192	c.240 others(209): Show c.2402+987_2402+988insGTATATATATATATATATATATATATAT ACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGTGTATAT ATATATATATATGTATATATATATATATTTATACACACATATATATACAT ACACATATATATATACACACACACACAGAGTTTTGGAGTATATAATATAT AATACTTAGAGTAT	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(185): Show ATATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02818.hp2 others(4): Show HG02055.hp2 HG02451.hp1 HG02818.hp2 HG03130.hp1 HG03471.hp1 HG06807.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0113 a0001c0001t0002g0153 a0001c0001t0005g0025 others(4): Show a0001c0001t0001g0113 a0001c0001t0002g0153 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0034 a0001c0001t0005g0171 a0001c0001t0015g0016	7	242	0.0289	192	c.240 others(211): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(185): Show ATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0259 a0001c0001t0006g0260	2	157	0.0127	192	c.240 others(211): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATATATATATATATATTTATACACACATATATATACATACACATA TATATATACACACACACACAGAGTTTTGGAGTATATAATATATAATACTT AGAGTATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747349	C C	CGGGGCAG others(185): Show CGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGGGGGGCAGGG GGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGGTGGTGAGCAGGGCCA GGTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTG GGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTTGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	234	0.0043	192	c.43 others(203): Show c.4359_*4360insGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTTG GAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCAGG TGGTGAGCAGGGCCAGGTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAG GGCCTGGTGGAGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGT TGGAAGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3300		chr20	TogoVar
SLC2A9_chr4_9821224_10026497	9874899	T T	TGTCTAAG others(185): Show TGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTCTCT GTCTAAGATGGGATGCTGTGCCTTTAGAAATGGCCATAGGTTAGCGTCTG TCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTAGCGTCTGT CTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0164 a0002c0008t0001g0164	1	334	0.0030	192	c.129 others(213): Show c.1291+12667_1291+12668insGCTAACCTATGGCCATTTCTAAAG ACACAGCATCCCATCTTAGACAGACGCTAACCTATGGCCATTTCTAAAGA CACAGCATCCCATCTTAGACAGACGCTAACCTATGGCCATTTCTAAAGGC ACAGCATCCCATCTTAGACAGAGAGTAACCTATGGCCATTTCTAAAGACA CAGCATCCCATCTTAGAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(185): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20905.hp1 HG01109.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0001g0313 a0001c0001t0001g0320	2	281	0.0071	192	c.555 others(209): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCT CCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC45A4_chr8_141202174_141313288	141203457	A A	AGAGAGGG others(185): Show AGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0146 a0002c0001t0001g0146	1	165	0.0061	192	c.81 others(203): Show c.8114_*8115insCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCT CTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTC TCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3716		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(185): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	358	0.0028	192	c.152 others(209): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(185): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATATTATATATAATATATATAAAATATATATATTATATATAATAT ATATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATAATATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01069.hp1 others(13): Show HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01074.hp2 HG01255.hp2 HG01257.hp1 HG01517.hp2 HG02055.hp2 HG02572.hp2 HG02615.hp1 HG02976.hp1 HG03130.hp1 HG03239.hp2 HG03704.hp2 HG04199.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0002t0041 a0002c0003t0014 a0003c0008t0001	a0001c0001t0002g0083 a0001c0001t0003g0015 a0001c0001t0003g0020 others(13): Show a0001c0001t0002g0083 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0007g0005 a0001c0001t0019g0014 a0001c0001t0019g0068 a0001c0002t0001g0070 a0001c0002t0002g0103 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0011g0141 a0001c0002t0015g0175 a0001c0002t0041g0003 a0002c0003t0014g0190 a0003c0008t0001g0126	16	154	0.1039	192	c.151 others(211): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATATTATATATAATATATATAAAA TATATATATTATATATAATATATATAAAATATATATATATAAAAAATATA TATTATATAATATATATAAAATATATATATTATATAATATATATATATAA TATATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT2_chr4_20246905_20625561	20472593	T T	TAGATATA others(185): Show TAGATATATCTATATAGATATAGATATATCTATATAGATATATATAGATA TATCTATATATATCGATATATATCGATATATATAGATATATCGATATATA GATATATCTATATATATCGATATATATCGATATATCTATATATATCGATA TATATAGATATATCTATATATATCGATATATCTATATATATCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	155	0.0065	192	c.467 others(209): Show c.467+4771_467+4772insGATATATCTATATAGATATAGATATATC TATATAGATATATATAGATATATCTATATATATCGATATATATCGATATA TATAGATATATCGATATATAGATATATCTATATATATCGATATATATCGA TATATCTATATATATCGATATATATAGATATATCTATATATATCGATATA TCTATATATATCGA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(185): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0206 a0001c0001t0136g0206	1	153	0.0065	192	c.784 others(207): Show c.784+877_784+878insTAATATATAATATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATATAATATATAAAA TATATATTATACATAATATATATAATATATATAATATATATTATACATAA TATATATAATATATATATAATATATAATATATATTATACATAATATATAT AATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(185): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0221 a0001c0001t0013g0221	1	153	0.0065	192	c.784 others(207): Show c.784+877_784+878insTAATATATAAAATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATATAATATATAAAA TATATATTATACATAATATATATAATATATATAATATATATTATACATAA TATATATAATATATATATAATATATAATATATATTATACATAATATATAT AATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2768669	T T	TACACTAT others(185): Show TACACTATATACTATACTAGTATAGTATATAGTACACTATATACTATACT AGTATAGTATATAGTACACTATATACTATACTAGTATAGTATATAGTACA CTATATACTATACTACTAGTATAGTATATAGTACACTATATACTATACTA CTAGTATAGTATATAGTACACTATATACTATACTACTAGTATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	279	0.0036	192	c.472 others(211): Show c.4720-1025_4720-1024insACACTATATACTATACTAGTATAGTA TATAGTACACTATATACTATACTAGTATAGTATATAGTACACTATATACT ATACTAGTATAGTATATAGTACACTATATACTATACTACTAGTATAGTAT ATAGTACACTATATACTATACTACTAGTATAGTATATAGTACACTATATA CTATACTACTAGTATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(185): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02109.hp1 others(4): Show HG01243.hp1 HG01891.hp1 HG02109.hp1 HG03225.hp2 HG06807.hp1 NA18974.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0159 a0001c0001t0004g0160 others(4): Show a0001c0001t0004g0149 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0212 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0004g0223	7	207	0.0338	192	c.17 others(211): Show c.174+9776_*174+9777insCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTAT ATATCATAAAATATAATGTATATTATATATTATAATATAAAATATAATAT ATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974701	C C	CAGGGAAA others(185): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	107	0.0093	192	c.532 others(211): Show c.532-44765_532-44764insAGGCTAGAGACGATGGCTTTCCCTAG GCCGGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGC CAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976305	A A	AGCCCAGG others(185): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	114	0.0088	192	c.532 others(211): Show c.532-46369_532-46368insCGGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976813	T T	TAGGGAAA others(185): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0001 a0001c0006t0003g0001	1	121	0.0083	192	c.532 others(211): Show c.532-46877_532-46876insGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246233685	T T	TCAATTCA others(185): Show TCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTC AATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCA ATCCACACAGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0129 a0002c0003t0002g0150 a0002c0003t0002g0129 a0002c0003t0002g0150	2	150	0.0133	192	c.531 others(211): Show c.531+93515_531+93516insGGAGTGCTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATG TTCATCACTGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGT TCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTC ATCACAGTGTGAATTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7724823	G G	GTGGTAGT others(185): Show GTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGT GATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGG AGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTG GTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0027 a0001c0028t0027	a0001c0028t0027g0152 a0001c0028t0027g0152	1	164	0.0061	192	c.261 others(209): Show c.2612-331_2612-330insTGGTAGTTATGGTGATGATGGTGGTAGT GGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGA TGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATG GTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCT GGTGAGGATGGTGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(185): Show TATACACATATAATATATGATATATATCATATACACATATAATATATGAT ATATATCATATACACATATAATATATGATATATATCATATACACATATAA TATATGATATATATCATATACACATATAATATATGATATATATCATATAC ACATATAATATATGATATATATCATATACACATATAATATATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA20300.hp1 HG03927.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0032 a0001c0006t0004g0058 a0001c0001t0001g0032 a0001c0006t0004g0058	2	29	0.0690	192	c.627 others(211): Show c.627+54402_627+54403insCACATATAATATATGATATATATCAT ATACACATATAATATATGATATATATCATATACACATATAATATATGATA TATATCATATACACATATAATATATGATATATATCATATACACATATAAT ATATGATATATATCATATACACATATAATATATGATATATATCATATACA CATATAATATATGATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar

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