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
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(179): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTACAGGGGAAGAAGCGGGGGTGAACGGGAATGGGGGCTTACAGGGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0003 a0013c0020t0003	a0013c0020t0003g0002 a0013c0020t0003g0002	1	292	0.0034	186	c.108 others(205): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGGTGAAC GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAA GTGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGAAGAA others(179): Show GGGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACGGAGGAAGAAGCGGG GTGGACGGGAATCGGGGCTCACGGAGGAAGAAGCGGGGTGACCGGGAATG GGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGG GGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0010 a0006c0009t0010	a0006c0009t0010g0057 a0006c0009t0010g0057	1	292	0.0034	186	c.108 others(207): Show c.10862+1032_10862+1033insTGGGGTGACCGGGAATGGGGGCTC ACGGAGGAAGAAGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAAG CGGGGTGACCGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGG AATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTA TGGAGGAAGAAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(179): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02897.hp1 HG03209.hp2 HG01106.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0008 a0001c0001t0014 a0001c0014t0018 a0001c0001t0008 a0001c0001t0014 a0001c0014t0018	a0001c0001t0008g0029 a0001c0001t0014g0037 a0001c0014t0018g0019 a0001c0001t0008g0029 a0001c0001t0014g0037 a0001c0014t0018g0019	3	268	0.0112	186	c.-51 others(197): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
ROBO2_chr3_77035099_77654964	77410555	T T	TTCCTCCT others(179): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTC TCCTCCTCTTCCTCCTGCTCCTCTTCCTCCTGCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0022 a0001c0001t0006g0023	2	160	0.0125	186	c.389 others(205): Show c.389-66851_389-66850insCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTTCTCCTCCTCTTCCTCCTGCTCCTCTTCCTCCTGCTC CTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCTCCTCCTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410555	T T	TTCCTCCT others(179): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTTC TCCTCCTCTTCCTCCTGCTCCTCTTTCTCCTCCTCTTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG02293.hp1 others(9): Show HG00597.hp1 HG01106.hp2 HG02293.hp1 HG03491.hp2 NA18945.hp1 NA18948.hp1 NA18960.hp2 NA18968.hp2 NA18970.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0041	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 others(9): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0065 a0001c0001t0002g0103 a0001c0001t0003g0073 a0001c0001t0003g0101 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0041g0054	12	160	0.0750	186	c.389 others(205): Show c.389-66851_389-66850insCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTTCTCCTCCTCTTCCTCCTGCTCCTCTTTCTCCTCCTC TTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCTCCTCCTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	333137	C C	CGGCCATT others(179): Show CGGCCATTAGAGCTCACCACCCCGGGCGTTCGTCACTGCAGACATCACTG CAGACACAGAGAAGGCCATTAGAGCTCACCACCCCGGGCGTTCGTCACTG CAGACATCACTGCAGACACAGAGACGGCCATTAGAGCTCACCACCCCGGG CGTTCGTCACTGCAGACATCACTGCAGACACAGAGAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	186	c.-37 others(201): Show c.-37+621_-37+622insTTCTCTGTGTCTGCAGTGATGTCTGCAGTG ACGAACGCCCGGGGTGGTGAGCTCTAATGGCCGTCTCTGTGTCTGCAGTG ATGTCTGCAGTGACGAACGCCCGGGGTGGTGAGCTCTAATGGCCTTCTCT GTGTCTGCAGTGATGTCTGCAGTGACGAACGCCCGGGGTGGTGAGCTCTA ATGGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(179): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0072 a0003c0003t0072	a0003c0003t0072g0074 a0003c0003t0072g0074	1	366	0.0027	186	c.-15 others(197): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
SART1_chr11_65956734_65985137	65970966	A A	AGCTGAGG others(179): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19004.hp1 NA19065.hp1 others(3): Show NA18983.hp2 NA19004.hp1 NA19065.hp1 NA19074.hp1 NA19084.hp2 NA19086.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0109 others(1): Show a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0109 a0002c0001t0001g0148	6	384	0.0156	186	c.157 others(205): Show c.1572+3178_1572+3179insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971059	A A	AGCTGCTG others(179): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	384	0.0026	186	c.157 others(205): Show c.1572+3242_1572+3243insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971178	A A	AGCTGAGG others(179): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03491.hp2 HG01123.hp1 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0115 a0002c0001t0001g0116	2	384	0.0052	186	c.157 others(205): Show c.1572+3390_1572+3391insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971515	A A	AGCTGAGG others(179): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01069.hp2 others(10): Show HG00099.hp1 HG00438.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG02004.hp1 HG02071.hp1 HG02135.hp2 HG03831.hp2 NA18944.hp2 NA18988.hp2 NA19066.hp2 NA19081.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0009 a0002c0001 a0004c0009	a0002c0001t0001 a0002c0001t0018 a0004c0009t0001 a0002c0001t0001 a0002c0001t0018 a0004c0009t0001	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0024 others(8): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0071 a0002c0001t0001g0092 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0153 a0002c0001t0018g0098 a0004c0009t0001g0001	13	384	0.0339	186	c.157 others(205): Show c.1572+3727_1572+3728insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBK2_chr19_55523611_55542133	55537294	T T	TTCAGACC others(179): Show TTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCTCCCTCAGACTCAG GAGTCCAGGCCCCCAGCGCCTCCTCCCTCAGACCCAGGAATCCAGTCTCC CAGTGCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0045 a0001c0001t0014g0045	1	434	0.0023	186	c.-24 others(195): Show c.-244_-243insGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACT GGGAGACTGGATTCCTGGGTCTGAGGGAGGAGGCGCTGGGGGCCTGGACT CCTGAGTCTGAGGGAGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGA	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		162		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537294	T T	TTCAGACC others(179): Show TTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCTCCCTCAGACTCAG GAGTCCAGGCCCCCAGCGCCTCCTCCCTCAGACCCAGGAATCCAGTCTCC CAGTGCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	186	c.35 others(197): Show c.3551_*3552insGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCA CTGGGAGACTGGATTCCTGGGTCTGAGGGAGGAGGCGCTGGGGGCCTGGA CTCCTGAGTCTGAGGGAGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCT GA	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3361		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(179): Show TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	332	0.0030	186	c.632 others(203): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(179): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp2 HG03017.hp1 others(7): Show HG00609.hp1 HG02027.hp2 HG03017.hp1 HG03831.hp1 NA18945.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA19004.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0039 a0001c0001t0003 a0001c0001t0039	a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 others(7): Show a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0303 a0001c0001t0003g0315 a0001c0001t0003g0326 a0001c0001t0039g0317	10	332	0.0301	186	c.632 others(203): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(179): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02280.hp2 NA18998.hp2 HG01168.hp2 HG02280.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0052	3	390	0.0077	186	c.48 others(197): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277904	C C	CTCTCCCT others(179): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	186	c.49 others(197): Show c.4909_*4910insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4745		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277921	C C	CCTCTCCC others(179): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	390	0.0026	186	c.49 others(197): Show c.4926_*4927insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4762		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(179): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	390	0.0026	186	c.49 others(197): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCT CG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4780		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(179): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0023 a0023	a0023c0044 a0023c0044	a0023c0044t0002 a0023c0044t0002	a0023c0044t0002g0099 a0023c0044t0002g0099	1	290	0.0035	186	c.166 others(203): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCCCGT others(179): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0104 a0002c0003t0002g0104	1	290	0.0035	186	c.166 others(203): Show c.1663-360_1663-359insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(179): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTGTAT ATATATATACGTGTATATATATATATACGTATATATATATATACGTGTAT ATATATATATACGTATATATATATATACGTGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02258.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0090 a0002c0009t0025 a0002c0009t0090	a0002c0009t0025g0259 a0002c0009t0090g0270 a0002c0009t0025g0259 a0002c0009t0090g0270	2	280	0.0071	186	c.11 others(199): Show c.11400_*11401insCACGTATATATATATATATATACACGTATATA TATATATACGTATATATATATATACACGTATATATATATATACGTATATA TATATATACACGTATATATATATATACGTATATATATATATACACGTATA TATATATACACGTATATATATATATACGTATATATATATACACGTATATA TATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(179): Show ATATATATATATACGTGTATATATATATACGTATATATATATATATACGT ATATATATATATACGTGTATATATATATATACGTATATATATATACGTGT ATATATATATATACGTATATATATATACGTGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0053 a0003c0001t0053	a0003c0001t0053g0203 a0003c0001t0053g0203	1	280	0.0036	186	c.11 others(199): Show c.11400_*11401insCACGTATATATATATATATATACACGTATATA TATATATACGTATATATATATATACACGTATATATATATACGTATATATA TATATACACGTATATATATATACGTATATATATATATACACGTATATATA TATATACGTATATATATATATATACGTATATATATATACACGTATATATA TATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339734	C C	CACAAGCA others(179): Show CACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACA AGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0007 a0006c0015t0007	a0006c0015t0007g0183 a0006c0015t0007g0183	1	280	0.0036	186	c.89- others(199): Show c.89-500_89-499insTGGGGGGGTAGAATGAGGAGAGTAGGGGAGGG TTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGCTGGA GTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCA ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SELENOO_chr22_50196011_50222616	50212707	T T	TGCCTGTT others(179): Show TGCCTGTTTCTTCAGTCTGTTGTCTCCCTCTAATCTTCGTGTAAGTGGAG TTACACAGCGTGTGCCTGTTTCTTCAGTCTGTTGTCTCCCTCTAATCTTC GTGTAAGTGGAGTTACGCAGCGTGCGCCTGTTTCTTCAGTCTGTTGTCTC CCTCTAATCTTCGTGTAAGTGGAGTTACGCAGCGTGC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	438	0.0023	186	c.135 others(205): Show c.1351+1849_1351+1850insACAGCGTGTGCCTGTTTCTTCAGTCT GTTGTCTCCCTCTAATCTTCGTGTAAGTGGAGTTACGCAGCGTGCGCCTG TTTCTTCAGTCTGTTGTCTCCCTCTAATCTTCGTGTAAGTGGAGTTACGC AGCGTGCGCCTGTTTCTTCAGTCTGTTGTCTCCCTCTAATCTTCGTGTAA GTGGAGTTAC	SELENOO	ENSG00000073169.15	transcript	ENST00000380903.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(179): Show CTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTC CCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCA CCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTC CCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	374	0.0027	186	c.248 others(203): Show c.248-1212_248-1211insTGGTTTCTCCCCTCTCCCTCCCTCTCCA CCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTC TCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTC CCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCT CCCCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(179): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCC CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0139 a0001c0001t0011g0139	1	214	0.0047	186	c.691 others(205): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCC CTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A1_chr15_48201302_48309078	48270749	T T	TGTATATA others(179): Show TGTATATATATATATATATATATATATATACTCTAAGTATTATATATTAT ATACTCCAAAACTGTGTGTGTGTATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	266	0.0038	186	c.240 others(205): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTATATATATATATATATGTATATATATATATATT TATACACACATATATATACATACACATATATATATACACACACACACAGA GTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATATATA TATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1071209	C C	CCCAGTGA others(179): Show CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGGTATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0014 a0002c0042t0014	a0002c0042t0014g0118 a0002c0042t0014g0118	1	118	0.0085	186	c.224 others(205): Show c.2241+2423_2241+2424insCGGCTCACTGGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGT GTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATACCC GTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071905	C C	CAGCCCCC others(179): Show CAGCCCCCGAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGCATCACACTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCAGTGAGAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTAACGCAGCCCCAGTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	186	c.224 others(205): Show c.2241+1727_2241+1728insCACTGGGGCTGCGTTAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCTCTCACTGGGGCTGCATAAGTGTGAT GCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAGTGTGATGCCGTGTGC TGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCA CTCGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098513	G G	GCCCCCCT others(179): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCTCA CCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTG CTCACCCAGCCCCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTC TGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0111 a0001c0034t0001g0111	1	118	0.0085	186	c.125 others(203): Show c.125-4266_125-4265insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTA GAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC23A3_chr2_219156465_219175029	219159566	T T	TATATATA others(179): Show TATATATATATGCATATATATATGCATATATATATATGCATATATATGCA TATATATATGCATATATATGCATATATATGCATATATATATATATGCATA TATATATGCATATATATATATGCATATATATATGCATATATATGCATATA TATGCATATATATATGCATATATATGCATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	434	0.0023	186	c.23 others(197): Show c.2342_*2343insGCATATATATGCATATATATGCATATATATATGC ATATATATGCATATATATGCATATATATATGCATATATATATATGCATAT ATATATGCATATATATATATATGCATATATATGCATATATATGCATATAT ATATGCATATATATGCATATATATATATGCATATATATATGCATATATAT AT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1898		chr2	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(179): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0116 a0001c0002t0003g0116	1	386	0.0026	186	c.563 others(203): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC2A5_chr1_9030106_9074635	9053402	T T	TATATATT others(179): Show TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATAATATATATTATATATTTATATATTATATATATT TATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTATATATTATATATATTTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0150 a0001c0001t0041g0150	1	336	0.0030	186	c.293 others(203): Show c.293+4045_293+4046insTAAATATATATAATATATAAATATATAT AATATATAAATATATAATATATATAAATATATATAATATATAAATATATA ATATATATAAATATATATAATATATAAATATATAATATATATTATATATA AATATATATAATATATAAATATATAATATATATAAATATATATAATATAT AAATATAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(179): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATAATATATATTTATATATATTATATATTTATATATTATATATAT TTATATATATTATATATATTTATATATATTATATATT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	336	0.0030	186	c.293 others(203): Show c.293+3992_293+3993insAATATATAATATATATAAATATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TTATATATAATATATAAATATATAATATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79919577	T T	TGGGGAGA others(179): Show TGGGGAGAGATGGAACCGACTGAGAGGTCAAGGTCAGTGGGGAGAGACGG AACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACTGAGGGAGAG GTCAAGCTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAAGGTCAGTG GGGAGAGACGGAACCGAGTGAGAGGTCAGGGTCAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18947.hp2 HG02148.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0143 a0001c0001t0001g0041 a0001c0001t0001g0143	2	352	0.0057	186	c.392 others(201): Show c.392-178_392-177insCTCTGACCCTGACCTCTCACTCGGTTCCGT CTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCCACTGA GCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACCTCTCA CTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCT CTCCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920351	G G	GGAACCGA others(179): Show GGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCA GTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	352	0.0028	186	c.392 others(201): Show c.392-952_392-951insGTCTCTCCCCACTGACCCTGACCTCTCCCT CGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTC TCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCT TGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCCCT CGGTTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238263	C C	CTGGAGGA others(179): Show CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGG TTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01071.hp1 others(2): Show HG00423.hp2 HG01070.hp2 HG01071.hp1 NA18979.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0001g0310 a0001c0001t0001g0393 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0310 a0001c0001t0001g0393 a0001c0001t0002g0017	5	456	0.0110	186	c.732 others(201): Show c.732+206_732+207insAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGA GCTTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422351	A A	ATGCTGGG others(179): Show ATGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCA CCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACA GTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCT GCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0011 a0001c0012 a0001c0011 a0001c0012	a0001c0011t0013 a0001c0012t0046 a0001c0011t0013 a0001c0012t0046	a0001c0011t0013g0183 a0001c0012t0046g0363 a0001c0011t0013g0183 a0001c0012t0046g0363	2	373	0.0054	186	c.654 others(201): Show c.654-338_654-337insGCGTGGGCAGCACTGTGGGCAGCGGTGGGT ACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGG GCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGG GCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCAC CCAGCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC8A1_chr2_40092270_40457090	40200241	T T	TATATATA others(179): Show TATATATATATATTTATATATATATATAAATATATATATATATTTATATA TATATATAAATATATATATATTTATATATATATATAAATATATATATATT TATATATATATATAAATATATATATATTTATATATATATATAAATATATA TATATATTTATATATATAAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0190 a0001c0001t0190	a0001c0001t0190g0113 a0001c0001t0190g0113	1	236	0.0042	186	c.180 others(207): Show c.1809-21749_1809-21748insTTATATATATATATATATTTATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATTT ATATATATATATAAATATATATATATTTATATATATATATAAATATATAT ATATTTATATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200247	T T	TATATATT others(179): Show TATATATTTATATATATATATAAATATATATATATATATATATATAAATA TATATATATATTTATATATATATATAAATATATATATATTTATATATATA TATAAATATATATATATATTTATATATATATATATATATTTATATATATA TATAAATATATATATATTTTTTTATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0166 a0001c0001t0176g0166	1	236	0.0042	186	c.180 others(207): Show c.1809-21755_1809-21754insTTATATATATATATAAAAAAATAT ATATATATTTATATATATATATAAATATATATATATATATATAAATATAT ATATATATTTATATATATATATAAATATATATATATTTATATATATATAT AAATATATATATATATTTATATATATATATATATATATATTTATATATAT ATATAAATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A8_chr20_49807828_49897242	49834368	T T	TATATATA others(179): Show TATATATATATACAGTATATATATATACACAGTATATATATATACAGTAT ATATATATACACAGTATATATATATATATACACACTGTATATATAGTGTG TGTATATACATATACTGTGTGTATATATAGTGCATATAGTGCGTATATAC AGTGTGTGTATATACATAGTGTGTGTGTATATATACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(10): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG02165.hp1 HG02572.hp1 HG02976.hp1 NA18946.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA19007.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0329 a0001c0002t0001g0332 a0001c0002t0001g0335 others(10): Show a0001c0002t0001g0329 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0004g0333 a0001c0002t0004g0334	13	360	0.0361	186	c.290 others(203): Show c.290-5173_290-5172insATATATATATACAGTATATATATATACA CAGTATATATATATACAGTATATATATATACACAGTATATATATATATAT ACACACTGTATATATAGTGTGTGTATATACATATACTGTGTGTATATATA GTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTGTGTGTGTA TATATACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15			chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(179): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATTATG TATAATATATATTTTATATATTATATATATTATGTATAATATATTTTATA TATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	310	0.0032	186	c.784 others(201): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATTATACATAATATATATAATATATAAAATATA TATTATACATAATATATAATATATATAATATATATTATACATAATATATA TAATATATATATAATATATAATATATATTATACATAATATATATAATATA TATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(179): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATTATG TATAATATATATTTTATATATTATATATATTATGTATAATATATTTTATA TATTATATATATTATGTATAATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18979.hp2 NA19058.hp1 NA18950.hp2 NA18979.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0063 a0001c0001t0121 a0001c0001t0062 a0001c0001t0063 a0001c0001t0121	a0001c0001t0062g0234 a0001c0001t0063g0249 a0001c0001t0121g0292 a0001c0001t0062g0234 a0001c0001t0063g0249 a0001c0001t0121g0292	3	310	0.0097	186	c.784 others(201): Show c.784+877_784+878insTAATATATAAAATATATTATACATAATATA TATAATATATAAAATATATTATACATAATATATATAATATATAAAATATA TATTATACATAATATATAATATATATAATATATATTATACATAATATATA TAATATATATATAATATATAATATATATTATACATAATATATATAATATA TATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850582	T T	TATATATA others(179): Show TATATATATTATATATATTATGTATAATATATATTATATATTATATATAT TATGTATAATATATATTATATATTATATATATATTATATATATTATGTAT AATATATATTATATATTATATATATATTATATATATTATGTATAATATAT ATTATATATTATATATATATTATATATATTATGTATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0227 a0001c0001t0103g0227	1	310	0.0032	186	c.784 others(201): Show c.784+691_784+692insTATACATAATATATATAATATATATATAAT ATATAATATATATTATACATAATATATATAATATATATATAATATATAAT ATATATTATACATAATATATATAATATATATATAATATATAATATATATT ATACATAATATATATAATATATAATATATATTATACATAATATATATAAT ATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(179): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	412	0.0024	186	c.-15 others(205): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(179): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	340	0.0029	186	c.17 others(205): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAACATAATA TATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(179): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATATTCTATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	340	0.0029	186	c.17 others(205): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAACATAATA TATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(179): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01167.hp2 others(17): Show HG00099.hp1 HG00639.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01975.hp1 HG01978.hp1 HG02040.hp2 HG02293.hp1 HG03491.hp2 NA18961.hp2 NA18978.hp2 NA19002.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0002t0001 a0001c0002t0024 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0024 a0001c0002t0051 a0001c0006t0004 a0001c0006t0031	a0001c0001t0004g0104 a0001c0001t0004g0264 a0001c0002t0001g0154 others(16): Show a0001c0001t0004g0104 a0001c0001t0004g0264 a0001c0002t0001g0154 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0221 a0001c0002t0001g0237 a0001c0002t0001g0248 a0001c0002t0024g0244 a0001c0002t0051g0205 a0001c0006t0004g0006 a0001c0006t0004g0255 a0001c0006t0004g0260 a0001c0006t0004g0262 a0001c0006t0004g0306 a0001c0006t0031g0307	20	382	0.0524	186	c.159 others(203): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(179): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0360 a0001c0001t0036g0360	1	382	0.0026	186	c.159 others(203): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

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