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
RGSL1_chr1_182445146_182565597	182562676	GTGCAGTA others(46): Show GTGCAGTACCCAGAGCTAGTTACACAGGGGCTCCAGGGAGGTTGTGAGGG AAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02647.hp2 others(4): Show HG01884.hp2 HG02451.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0001 a0001c0001t0001 a0004c0012t0001	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0213 a0001c0001t0001g0258 a0004c0012t0001g0262 a0004c0012t0001g0325	7	335	0.0209	-53	c.25 others(64): Show c.2564_*2616delTGCAGTACCCAGAGCTAGTTACACAGGGGCTCCA GGGAGGTTGTGAGGGAAAA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		2080		chr1	TogoVar
RHOF_chr12_121772754_121798688	121792101	AGGGGGGC others(46): Show AGGGGGGCTCTGAGCTAGGACAGCCCCTTTTCGGGTCCTCTCCAAGGTCT AGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01099.hp1 others(61): Show HG00438.hp2 HG00597.hp2 HG01099.hp1 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0002c0002t0010	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(40): Show a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0006g0024 a0001c0001t0006g0143 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0163 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0012g0016 a0001c0001t0012g0160 a0001c0001t0012g0166 a0001c0001t0020g0053 a0001c0001t0020g0170 a0001c0001t0020g0171 a0001c0001t0030g0153 a0001c0001t0032g0169 a0001c0001t0033g0151 a0001c0001t0037g0168 a0002c0002t0010g0167	64	384	0.1667	-53	c.226 others(69): Show c.226+998_226+1050delACCTAGACCTTGGAGAGGACCCGAAAAGG GGCTGTCCTAGCTCAGAGCCCCCC	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RHOXF1_chrX_120104051_120120913	120117647	AGCCACTC others(46): Show AGCCACTCGCTCCATTAATTGACTGCCATCCACTGGGCTAAGTGAGATCC TTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	-53	c.-18 others(64): Show c.-1838_-1786delGCAAGGATCTCACTTAGCCCAGTGGATGGCAGTC AATTAATGGAGCGAGTGGC	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding		1735		chrX	TogoVar
RNF150_chr4_140854807_141138469	140935003	ATATAAAT others(46): Show ATATAAATATATATATATTATATATTTATAATATATATATATAAATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0166 a0001c0001t0075g0166	1	182	0.0055	-53	c.891 others(70): Show c.891-8983_891-8931delATATATATATTTATATATATATATTATA AATATATAATATATATATATTTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF212_chr4_1066478_1118564	1070345	CGGGTGGT others(46): Show CGGGTGGTTTTGTAGGGCTGTGCTGTGTCAGCGTGGGTGCCTGGCCTGAG TTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02602.hp1 HG02273.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0203 a0001c0001t0001g0003 a0001c0001t0001g0203	2	404	0.0050	-53	c.24 others(64): Show c.2476_*2528delACAACTCAGGCCAGGCACCCACGCTGACACAGCA CAGCCCTACAAAACCACCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		1132		chr4	TogoVar
RNGTT_chr6_88604897_88968618	88726348	CATTGTGA others(46): Show CATTGTGAGCACACCACATCAGGTCAGAACTATCCTAAGTCCAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03098.hp1 others(3): Show HG02559.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0197 a0001c0001t0006g0129 a0001c0001t0006g0194 others(3): Show a0001c0001t0003g0197 a0001c0001t0006g0129 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0198	6	218	0.0275	-53	c.143 others(74): Show c.1439+43373_1439+43425delTTTTTTTTTTTTGGACTTAGGATA GTTCTGACCTGATGTGGTGTGCTCACAAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO2_chr3_77035099_77654964	77290630	GCTGAGGC others(46): Show GCTGAGGCTAGATCACCCAAGACACAAAGTAAAATTGATGGTTAAACGGG TAAT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0156 a0001c0001t0031g0156	1	160	0.0063	-53	c.389 others(74): Show c.389-186766_389-186714delAAGACACAAAGTAAAATTGATGGT TAAACGGGTAATCTGAGGCTAGATCACCC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77292945	CGGTAAGC others(46): Show CGGTAAGCTGAGGCTAGATCACCAAAGACATTAAGTAAAATTGACGGTTA AACG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0007 a0001c0002t0002 a0002c0003t0007	a0001c0002t0002g0105 a0002c0003t0007g0116 a0001c0002t0002g0105 a0002c0003t0007g0116	2	115	0.0174	-53	c.389 others(74): Show c.389-184438_389-184386delTAAGTAAAATTGACGGTTAAACGG GTAAGCTGAGGCTAGATCACCAAAGACAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293075	AAGACATA others(46): Show AAGACATAAAGTAAAATTGGCGGTTAAACGGGTAAGCTGAGGCTAGATCA CCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0085	1	160	0.0063	-53	c.389 others(74): Show c.389-184320_389-184268delGCGGTTAAACGGGTAAGCTGAGGC TAGATCACCCCAGACATAAAGTAAAATTG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	242591	ACCTTCCT others(46): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	123	0.0081	-53	c.613 others(70): Show c.613+4467_613+4519delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243701	ACCTTCCT others(46): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	132	0.0076	-53	c.613 others(70): Show c.613+3357_613+3409delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80825103	CGTGGGGC others(46): Show CGTGGGGCAGCCACATCCCACCTCTCTCTCTAGAGGCCACGTGGCGAGGC CAGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0012 a0001c0066 a0001c0012 a0001c0066	a0001c0012t0003 a0001c0066t0058 a0001c0012t0003 a0001c0066t0058	a0001c0012t0003g0192 a0001c0066t0058g0126 a0001c0012t0003g0192 a0001c0066t0058g0126	2	194	0.0103	-53	c.113 others(72): Show c.1136+1881_1136+1933delGTGGGGCAGCCACATCCCACCTCTCT CTCTAGAGGCCACGTGGCGAGGCCAGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80825157	ATGGGGCA others(46): Show ATGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAGGCC AGCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0057 a0001c0020 a0001c0057	a0001c0020t0093 a0001c0057t0077 a0001c0020t0093 a0001c0057t0077	a0001c0020t0093g0034 a0001c0057t0077g0016 a0001c0020t0093g0034 a0001c0057t0077g0016	2	193	0.0104	-53	c.113 others(72): Show c.1136+2013_1136+2065delATCTAGAGGCCGCGTGGCGAGGCCAG CGTGGGGCAGCCACATCCCACCTCTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864333	TTTCTTCT others(46): Show TTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAATGATGGCAAG TTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0012 a0001c0075t0012	a0001c0075t0012g0127 a0001c0075t0012g0127	1	194	0.0052	-53	c.150 others(72): Show c.1509+6438_1509+6490delTCTTACAGATTTCCTACAGATGGAAA AGGTGAGAATGATGGCAAGTTTCTTCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80951116	GGAAGCAT others(46): Show GGAAGCATCCACACGTCCACACCCGGCTGGCCCCAGGGTCCCTGAGACCC CCCA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0169 a0001c0008t0054g0169	1	154	0.0065	-53	c.337 others(72): Show c.3370+1599_3370+1651delCCCCAGGGTCCCTGAGACCCCCCAGA AGCATCCACACGTCCACACCCGGCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRM1_chr11_4089799_4143932	4143730	ACATATCC others(46): Show ACATATCCTCATACCTGGTATGCAGCTATTGATCTGGCAAATGCTTTTTT CTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0311 a0001c0003t0002g0311	1	366	0.0027	-53	c.53 others(64): Show c.5348_*5400delCATATCCTCATACCTGGTATGCAGCTATTGATCT GGCAAATGCTTTTTTCTCC	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding		4799		chr11	TogoVar
RSBN1_chr1_113756832_113817476	113780028	AAAAAGAA others(46): Show AAAAAGAAATATCAGTCTCCCCCAAACACCTCTCCCAACTATTCCCAGTC TCAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	338	0.0030	-53	c.137 others(72): Show c.1378-2273_1378-2221delCTGAGACTGGGAATAGTTGGGAGAGG TGTTTGGGGGAGACTGATATTTCTTTT	RSBN1	ENSG00000081019.14	transcript	ENST00000261441.9	protein_coding	2/6			chr1	TogoVar
RTP5_chr2_241864729_241878823	241865183	GTGCGGTA others(46): Show GTGCGGTAATGTGTGGTGTTTCTGTGGTGTGTGTAGTGTGTGTTTGTGGT ATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	364	0.0027	-53	c.-45 others(64): Show c.-4573_-4521delTGCGGTAATGTGTGGTGTTTCTGTGGTGTGTGTA GTGTGTGTTTGTGGTATGT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4545		chr2	TogoVar
RTP5_chr2_241864729_241878823	241874845	TTGCAGGG others(46): Show TTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGGGCCTCGGGGGC CAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0012 a0011c0012t0012	a0011c0012t0012g0013 a0011c0012t0012g0013	1	364	0.0027	-53	c.15 others(64): Show c.1572_*1624delTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATC CAGGGCCTCGGGGGCCAAC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1023		chr2	TogoVar
RUNX1_chr21_34782801_35054302	34849350	GTATATAT others(46): Show GTATATATAATATATTATATATACTATATACATAGTATATATAATATATT ATAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp2 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0128 a0001c0001t0005g0089 a0001c0001t0005g0128	2	145	0.0138	-53	c.613 others(72): Show c.613+10071_613+10123delGTATAATATATTATATATACTATGTA TATAGTATATATAATATATTATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SARDH_chr9_133658560_133743352	133705318	GAATTACC others(46): Show GAATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTATAG AATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp2 others(10): Show HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0033 a0001c0051 others(8): Show a0001c0001 a0001c0033 a0001c0051 a0001c0052 a0001c0064 a0002c0053 a0003c0003 a0003c0009 a0003c0017 a0003c0032 a0003c0054	a0001c0001t0002 a0001c0033t0001 a0001c0033t0002 others(9): Show a0001c0001t0002 a0001c0033t0001 a0001c0033t0002 a0001c0051t0001 a0001c0052t0001 a0001c0064t0004 a0002c0053t0001 a0003c0003t0002 a0003c0009t0001 a0003c0017t0001 a0003c0032t0001 a0003c0054t0001	a0001c0001t0002g0049 a0001c0033t0001g0146 a0001c0033t0002g0030 others(10): Show a0001c0001t0002g0049 a0001c0033t0001g0146 a0001c0033t0002g0030 a0001c0051t0001g0033 a0001c0052t0001g0144 a0001c0064t0004g0057 a0002c0053t0001g0031 a0003c0003t0002g0047 a0003c0003t0002g0050 a0003c0009t0001g0060 a0003c0017t0001g0253 a0003c0032t0001g0155 a0003c0054t0001g0145	13	120	0.1083	-53	c.147 others(70): Show c.1471-340_1471-288delAATTCTATAGATGGGGGTTCTCAGGGTG AGGGCAGATGGGGCAGGTGGTAATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	11/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1137292	GGGGGGAG others(46): Show GGGGGGAGGCTCGGGCCGGGGTGCGGTGGGGGGAGGCTCGGGCCGGGGTG CGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0144 a0001c0005t0001g0144	1	201	0.0050	-53	c.280 others(70): Show c.280-9580_280-9528delACCGCACCCCGGCCCGAGCCTCCCCCCA CCGCACCCCGGCCCGAGCCTCCCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCGB2A2_chr11_62265158_62278160	62277958	CCACGGTC others(46): Show CCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCAT CTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01257.hp1 others(11): Show HG00735.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG02257.hp1 HG03710.hp1 HG04184.hp1 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18963.hp2 NA19058.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0057	14	385	0.0364	-53	c.49 others(64): Show c.4964_*5016delCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGA CTGTACTGCTGCCATCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4799		chr11	TogoVar
SEMA3C_chr7_80737538_80924051	80863812	TACATATA others(46): Show TACATATATATGTGATATGTGATATATATATCACATATCACATACATATG TATC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19068.hp1 NA19057.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0002 a0001c0002t0001 a0001c0013t0002	a0001c0002t0001g0201 a0001c0013t0002g0233 a0001c0002t0001g0201 a0001c0013t0002g0233	2	241	0.0083	-53	c.104 others(72): Show c.104-35120_104-35068delGATACATATGTATGTGATATGTGATA TATATATCACATATCACATATATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3G_chr3_52428035_52450103	52444654	GGGCACAC others(46): Show GGGCACACGCACACAAACACGGCACACGCAAACTCGGCACACGCACACAA ACTC	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04204.hp1 NA19058.hp1 HG02523.hp1 HG04204.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0014 a0001c0003t0004 a0001c0003t0014	a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0014g0028 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0014g0028	3	308	0.0097	-53	c.115 others(68): Show c.115+206_115+258delGAGTTTGTGTGCGTGTGCCGAGTTTGCGTG TGCCGTGTTTGTGTGCGTGTGCC	SEMA3G	ENSG00000010319.7	transcript	ENST00000231721.7	protein_coding	1/15			chr3	TogoVar
SERTAD2_chr2_64626621_64658913	64644667	ATAAAACA others(46): Show ATAAAACACACCAGCGAAAACAAAGAGGCTGCCCTGAAAAGGTTGCAGTG GTGG	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	422	0.0024	-53	c.-4- others(68): Show c.-4-7845_-4-7793delCCACCACTGCAACCTTTTCAGGGCAGCCTC TTTGTTTTCGCTGGTGTGTTTTA	SERTAD2	ENSG00000179833.4	transcript	ENST00000313349.3	protein_coding	1/1			chr2	TogoVar
SGSH_chr17_80204276_80225333	80217586	AGTGGGTA others(46): Show AGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATTGATA GATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02258.hp2 others(3): Show HG00639.hp1 HG02145.hp1 HG02258.hp2 HG03516.hp1 HG03579.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0112 a0005c0005t0001g0011 a0005c0005t0001g0111 a0001c0001t0001g0112 a0005c0005t0001g0011 a0005c0005t0001g0111	6	418	0.0144	-53	c.89- others(66): Show c.89-447_89-395delCATCTATCAATCAGTCCAGCCTCCATACCATG CTCACCTGCCAACATACCCAC	SGSH	ENSG00000181523.13	transcript	ENST00000326317.11	protein_coding	1/7			chr17	TogoVar
SH2D5_chr1_20714731_20737703	20733477	AACTCTGT others(46): Show AACTCTGTCGCCCAGGCTGGAGTGCAGTACAGCAAGGGTTTAAGACAGCG TCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18906.hp2 HG01496.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0015 a0001c0001t0005g0056 a0001c0001t0003g0015 a0001c0001t0005g0056	2	408	0.0049	-53	c.-13 others(64): Show c.-1392_-1340delCAGACGCTGTCTTAAACCCTTGCTGTACTGCACT CCAGCCTGGGCGACAGAGT	SH2D5	ENSG00000189410.12	transcript	ENST00000444387.7	protein_coding		775		chr1	TogoVar
SH3RF2_chr5_145931578_146068292	146064721	AGAAAGAA others(46): Show AGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	264	0.0038	-53	c.20 others(64): Show c.2021_*2073delGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1430		chr5	TogoVar
SH3TC1_chr4_8194290_8246103	8234008	TTTATCCA others(46): Show TTTATCCATCCATCATCCATCCATCCATTCATCCATCATTCATCCATCCT TTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0019 a0019	a0019c0074 a0019c0074	a0019c0074t0001 a0019c0074t0001	a0019c0074t0001g0110 a0019c0074t0001g0110	1	372	0.0027	-53	c.328 others(70): Show c.3282+497_3282+549delTATCCATCCATCATCCATCCATCCATTC ATCCATCATTCATCCATCCTTTTAT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM2_chrX_9781429_9954443	9792093	ATAGAATA others(46): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0043 a0043	a0043c0063 a0043c0063	a0043c0063t0004 a0043c0063t0004	a0043c0063t0004g0021 a0043c0063t0004g0021	1	253	0.0040	-53	c.165 others(70): Show c.165+5384_165+5436delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50795101	GATATATA others(46): Show GATATATATATATGATATATATATATGATATATATATATATATATGATAT ATAT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18967.hp1 NA18971.hp1 others(1): Show HG03654.hp1 NA18967.hp1 NA18971.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0009g0074 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0009g0074 a0001c0001t0009g0075	4	164	0.0244	-53	c.117 others(72): Show c.117+18748_117+18800delATATATATCATATATATATATATATA TCATATATATATATCATATATATATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	402106	CCCCCGAC others(46): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	226	0.0044	-53	c.37 others(64): Show c.3737_*3789delTGAGCGGGGCCGGGGTCAGTGGAGCCGGGGGTGA GCGGGGCCGGGGGTCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3609		chr11	TogoVar
SIGIRR_chr11_400716_419999	402577	CCCCGCTC others(46): Show CCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCC CCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG03516.hp2 others(2): Show HG02258.hp2 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0167 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0003t0001g0020	5	220	0.0227	-53	c.32 others(64): Show c.3266_*3318delTCGGGGGTGAGCGGGGCCGGGGGTCGGGGGTGAG CGGGGTCGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3138		chr11	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show HG02622.hp1 HG02622.hp2 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0181 a0001c0001t0001g0234 a0001c0001t0009g0186 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0234 a0001c0001t0009g0186 a0001c0001t0009g0187	4	5	0.8000	-53	c.177 others(70): Show c.177-3578_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1045683	GCGAGTTA others(46): Show GCGAGTTAGTGTGTGAATGGGTCAGTGTTTTGGTGTGTGAACGAGTGGGT GAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	118	0.0085	-53	c.66 others(64): Show c.6624_*6676delACTCACCCACTCGTTCACACACCAAAACACTGAC CCATTCACACACTAACTCG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		4700		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1069992	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02976.hp1 HG04184.hp1 others(4): Show HG02698.hp1 HG02976.hp1 HG04184.hp1 NA18943.hp2 NA19011.hp1 NA19055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0003t0003 a0001c0009t0002 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0009t0002 a0001c0013t0003 a0001c0013t0007	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0003t0003g0003 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0003t0003g0003 a0001c0003t0003g0014 a0001c0009t0002g0114 a0001c0013t0003g0047 a0001c0013t0007g0101	7	106	0.0660	-53	c.224 others(72): Show c.2241+3588_2241+3640delCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072126	GCCCCCAG others(46): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATG CAGC	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA20752.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0023 a0002c0004t0001 a0001c0001t0023 a0002c0004t0001	a0001c0001t0023g0033 a0002c0004t0001g0041 a0001c0001t0023g0033 a0002c0004t0001g0041	2	102	0.0196	-53	c.224 others(72): Show c.2241+1454_2241+1506delGCTGCATAAGTGTGATGCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072176	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19065.hp2 NA20752.hp1 HG03710.hp2 NA19065.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0117 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0117	3	109	0.0275	-53	c.224 others(72): Show c.2241+1404_2241+1456delCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073025	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	109	0.0092	-53	c.224 others(70): Show c.2241+555_2241+607delCACTGGGGGCTGCATAAGTGTGATGCCC GTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073120	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 HG01255.hp2 others(11): Show HG00639.hp2 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG02055.hp2 HG02132.hp1 HG02683.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(5): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0005t0002 a0001c0006t0001 a0001c0006t0021 a0001c0009t0010 a0002c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0051 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0005t0002g0043 a0001c0006t0001g0048 a0001c0006t0021g0104 a0001c0009t0010g0081 a0002c0004t0001g0041	14	107	0.1308	-53	c.224 others(70): Show c.2241+460_2241+512delCACTGGGGGCTGCATAAGTGTGATGCCC GTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC17A6_chr11_22333381_22384503	22339130	TTATATAT others(46): Show TTATATATATATGTTATATATAGTTATATATATATGTTATATATATATGT TTTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03139.hp1 others(5): Show HG02809.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0003t0008	a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0006g0253 a0001c0001t0006g0255 a0001c0001t0014g0022 a0001c0003t0008g0258	8	445	0.0180	-53	c.86+ others(66): Show c.86+523_86+575delGTTATATATAGTTATATATATATGTTATATAT ATATGTTTTATATATATATAT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC17A9_chr20_62947709_62974585	62954025	CGCCTTCA others(46): Show CGCCTTCACTACGTCCCTCCCAGGCTCGATGTTTAAAAAGGAGCCCTTGC CGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(52): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18986.hp2 NA18991.hp2 NA19007.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0003c0007 a0006c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0003t0002 a0001c0003t0010 a0001c0003t0015 a0001c0003t0018 a0001c0003t0026 a0002c0004t0001 a0002c0004t0003 a0003c0007t0005 a0006c0014t0004	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0053 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0194 a0001c0001t0004g0052 a0001c0001t0004g0073 a0001c0001t0004g0149 a0001c0001t0004g0158 a0001c0001t0004g0195 a0001c0001t0006g0031 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0013g0156 a0001c0001t0013g0159 a0001c0003t0002g0027 a0001c0003t0002g0155 a0001c0003t0002g0163 a0001c0003t0010g0151 a0001c0003t0010g0152 a0001c0003t0015g0153 a0001c0003t0018g0027 a0001c0003t0018g0154 a0001c0003t0026g0160 a0002c0004t0001g0054 a0002c0004t0003g0003 a0003c0007t0005g0193 a0006c0014t0004g0065	55	428	0.1285	-53	c.59+ others(68): Show c.59+1240_59+1292delGCAGCCTTCACTACGTCCCTCCCAGGCTCG ATGTTTAAAAAGGAGCCCTTGCC	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429045	TATATTAT others(46): Show TATATTATATATATGTTATATATATATATAATATATATATTATATATATG TTAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	348	0.0029	-53	c.624 others(68): Show c.624+626_624+678delGTAACATATATATAATATATATATTATATA TATATATAACATATATATAATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC26A11_chr17_80215427_80258500	80217586	AGTGGGTA others(46): Show AGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATTGATA GATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02258.hp2 others(3): Show HG00639.hp1 HG02145.hp1 HG02258.hp2 HG03516.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0130 a0001c0001t0003g0169 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0130 a0001c0001t0003g0169 a0001c0001t0003g0170	6	364	0.0165	-53	c.-31 others(64): Show c.-3123_-3071delGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGG CTGGACTGATTGATAGATG	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding		2840		chr17	TogoVar
SLC2A14_chr12_7807514_7877915	7874869	CATATATA others(46): Show CATATATAAATATATATTTATATAAAAATTATATATAAATACATATATAA ATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02135.hp2 HG02572.hp2 others(8): Show HG00323.hp1 HG02135.hp2 HG02572.hp2 HG02630.hp1 HG02818.hp2 HG06807.hp2 NA18952.hp2 NA18988.hp1 NA19010.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0001	a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0005t0005 a0001c0008t0001 a0002c0001t0002	a0001c0002t0003g0196 a0001c0003t0001g0186 a0001c0004t0001g0185 others(8): Show a0001c0002t0003g0196 a0001c0003t0001g0186 a0001c0004t0001g0185 a0001c0004t0001g0197 a0001c0004t0001g0253 a0001c0005t0005g0205 a0001c0005t0005g0254 a0001c0008t0001g0200 a0002c0001t0002g0194 a0002c0001t0002g0199 a0002c0001t0002g0202	11	270	0.0407	-53	c.-21 others(64): Show c.-2173_-2121delATATTTATATATGTATTTATATATAATTTTTATA TAAATATATATTTATATAT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1955		chr12	TogoVar
SLC30A9_chr4_41985530_42095461	42073012	CCACTGGC others(46): Show CCACTGGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGAGAGACGAGGTT TCAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0025 a0001c0004t0024 a0001c0004t0025	a0001c0004t0024g0145 a0001c0004t0025g0146 a0001c0004t0024g0145 a0001c0004t0025g0146	2	162	0.0123	-53	c.141 others(72): Show c.1418+2360_1418+2412delGAGACGAGGTTTCATCACTGGCCATG TTGGCCAGGCTGGTCTCAAACTCCTGA	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC35F4_chr14_57558920_57871092	57720961	GTGAGTTA others(46): Show GTGAGTTAATAAACTCCTCATATATATATATATATATATATATATATATA TATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG04184.hp1 HG00642.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0055 a0001c0002t0001g0129 a0001c0001t0001g0055 a0001c0002t0001g0129	2	218	0.0092	-53	c.104 others(74): Show c.104-126890_104-126838delTATATATATATATATATATATATA TATATATATATGAGGAGTTTATTAACTCA	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	1/7			chr14	TogoVar
SLC37A3_chr7_140328752_140403530	140362658	CGTCCGGG others(46): Show CGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0190 a0001c0005t0002g0190	1	344	0.0029	-53	c.375 others(70): Show c.375+1697_375+1749delTGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGAC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396486	AGAGAGAG others(46): Show AGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG GGGG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0189 a0002c0012t0002g0189	1	321	0.0031	-53	c.-15 others(70): Show c.-15-8194_-15-8142delGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGGGGGGGGAGAGAGAGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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