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
SLC22A31_chr16_89190761_89205537	89192563	C C	CCCCCTCA others(98): Show CCCCCTCATTACCAGCCACGCCGCTTCCTCCCAGCTCCGCCTCCTCCCTA CCCGCCCGTCTTACCAGCCACGCCGCTTCCTCCAGCTCCGCCTCCTCCTA ACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	428	0.0023	105	c.34 others(116): Show c.3435_*3436insCGGGGTTAGGAGGAGGCGGAGCTGGAGGAAGCGG CGTGGCTGGTAAGACGGGCGGGTAGGGAGGAGGCGGAGCTGGGAGGAAGC GGCGTGGCTGGTAATGAGGGG	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3197		chr16	TogoVar
SLC25A11_chr17_4932130_4945046	4944992	C C	CAATTGAA others(98): Show CAATTGAAACAGAGTAATTAGATCTGGTAGACAATCTAATGCACATGCAT TAATGAAATGTGATAATTGATTGGCAAACATGTATTATGAGGTGGAAGGT TTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	105	c.-50 others(116): Show c.-5083_-5082insAAAAAAACCTTCCACCTCATAATACATGTTTGCC AATCAATTATCACATTTCATTAATGCATGTGCATTAGATTGTCTACCAGA TCTAATTACTCTGTTTCAATT	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		4947		chr17	TogoVar
SLC28A1_chr15_84879662_84950798	84928589	T T	TCTCTCTC others(98): Show TCTCTCTCTCTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0002 a0002c0054t0002	a0002c0054t0002g0197 a0002c0054t0002g0197	1	396	0.0025	105	c.108 others(124): Show c.1083+4481_1083+4482insCTCTCTCTCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTCCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747498	T T	TCGGGGGG others(98): Show TCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGGCAG GGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCT GGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02559.hp2 HG01167.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0001 a0001c0001t0008g0006 a0001c0001t0005g0001 a0001c0001t0008g0006	2	416	0.0048	105	c.45 others(116): Show c.4508_*4509insCGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGGT GGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCAGG GGGTGAGCAGGGCCTGGTGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3449		chr20	TogoVar
SLC43A3_chr11_57401954_57432121	57403523	G G	GGAGGAAG others(98): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0014 a0005c0011t0014	a0005c0011t0014g0162 a0005c0011t0014g0162	1	330	0.0030	105	c.42 others(116): Show c.4268_*4269insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3430		chr11	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(98): Show ATTTCTTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0159 a0002c0003t0003g0159	1	410	0.0024	105	c.152 others(122): Show c.152-2689_152-2688insGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAAAGAAAGAAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(98): Show TTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03490.hp2 HG03492.hp1 others(4): Show HG00673.hp2 HG03490.hp2 HG03492.hp1 NA18964.hp2 NA18986.hp2 NA19063.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0172 a0001c0001t0001g0347 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0172 a0001c0001t0001g0347 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0346	7	410	0.0171	105	c.152 others(122): Show c.152-2694_152-2693insGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(98): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp1 HG03453.hp1 NA20129.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0012 a0002c0005 a0005c0012	a0002c0005t0002 a0005c0012t0013 a0002c0005t0002 a0005c0012t0013	a0002c0005t0002g0153 a0005c0012t0013g0132 a0002c0005t0002g0153 a0005c0012t0013g0132	2	218	0.0092	105	c.212 others(122): Show c.212-3411_212-3307dupTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49834375	A A	ATATATAT others(98): Show ATATATATACACACTGTATATATAGTGTGTGTATATACATATACTGTGTG TATATATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp1 HG02148.hp1 others(8): Show HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02630.hp2 HG03453.hp2 HG03942.hp1 NA18522.hp2 NA18747.hp2 NA18961.hp2 NA18979.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0039 a0001c0002t0006 a0001c0002t0039	a0001c0002t0006g0005 a0001c0002t0006g0179 a0001c0002t0006g0180 others(8): Show a0001c0002t0006g0005 a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0006g0181 a0001c0002t0006g0182 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0185 a0001c0002t0006g0189 a0001c0002t0006g0190 a0001c0002t0039g0187	11	360	0.0306	105	c.290 others(122): Show c.290-5157_290-5156insACACTGTATATATAGTGTGTGTATATAC ATATACTGTGTGTATATATAGTGCATATAGTGCGTATATACAGTGTGTGT ATATACATAGTGTGTGTGTATATATAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO5A1_chr8_69662046_69839978	69772563	A A	AGAAAGGA others(98): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	280	0.0036	105	c.908 others(124): Show c.908-10689_908-10688insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTC	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(98): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG02027.hp2 others(4): Show HG00140.hp1 HG01496.hp1 HG02027.hp2 HG02040.hp1 HG02129.hp1 NA18969.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	380	0.0184	105	c.17 others(116): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168593621	C C	CGAGCTCC others(98): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATCGCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	180	0.0056	105	c.638 others(122): Show c.638-5149_638-5148insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(98): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCCCACGCCCCACGTCCCCCTC CCCCACACCCCAGGTCCCCCTCCCCCACACCCTGCATCCCCTCCCCCACG CCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	180	0.0056	105	c.25 others(116): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCCCACG CCCCACGTCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCCACACCCTGC ATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(98): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCCTCCCCCACGCCCCCCCCTC CCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACG CCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0049 a0001c0004t0005g0049	1	180	0.0056	105	c.25 others(116): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCCTCCC CCACGCCCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGC ATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SPAAR_chr9_35904490_35916686	35906586	T T	TCCACCAC others(98): Show TCCACCACCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCA CCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	105	c.-32 others(116): Show c.-3286_-3285insCCACCACCACCACCACCACCACCACCACCCCCGC CACACCCCTCACCACCTCCACCACCACCACCACCCCCACCACCACCCCCA CCACACCCCTCACCACCTCCA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2903		chr9	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(98): Show TAAGAGTGAGAGTATCATGTACAAGAGTGAGATTATCATGTACAAGAGTG AGATTATCATGTACAAGAGTGAGATTATCATGTACAAGAGTGAGATTATC ATGTAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0163 a0001c0001t0013g0163	1	416	0.0024	105	c.-42 others(120): Show c.-421-64_-421-63insGTACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCAC TCTTGTACATGATACTCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77061016	A A	ACAAGAGT others(98): Show ACAAGAGTGAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGT GAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGTGAGATTAT CACGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0093 a0001c0001t0007g0093	1	416	0.0024	105	c.-42 others(120): Show c.-421-84_-421-83insCACGTGATAATCTCACTCTTGCACGTGATA ATCTCACTCTTGCACGTGATAATCTCACTCTTGCACGTGATAATCTCACT CTTGCACGTGATAATCTCACTCTTG	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77061037	A A	ACAAGAGT others(98): Show ACAAGAGTGAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGT GAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGTGAGATTAT CACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG00099.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	2	416	0.0048	105	c.-42 others(122): Show c.-421-105_-421-104insCACGTGATAATCTCACTCTTGCACGTGA TAATCTCACTCTTGCACGTGATAATCTCACTCTTGCACGTGATAATCTCA CTCTTGCACGTGATAATCTCACTCTTG	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75493495	T T	TCTCTTGT others(98): Show TCTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGT ACATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGTACATGATA ATCTCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02896.hp2 others(6): Show HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0016 a0002c0002t0007g0039 a0002c0002t0007g0121 others(2): Show a0002c0002t0007g0016 a0002c0002t0007g0039 a0002c0002t0007g0121 a0002c0002t0007g0122 a0002c0002t0007g0123	9	408	0.0221	105	c.-42 others(120): Show c.-421-64_-421-63insGTACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCAC TCTTGTACATGATAATCTCACTCTT	SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPEF2_chr5_35612863_35819611	35713869	T T	TATATTTT others(98): Show TATATTTTATATATAGTATATATGTTATATATAGTATATATTTTATATAT AGTATATATGTTATATATAGTATATATTTTATATATAGTATATATGTTAT ATATAG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	268	0.0037	105	c.291 others(122): Show c.2914+983_2914+984insATATTTTATATATAGTATATATGTTATA TATAGTATATATTTTATATATAGTATATATGTTATATATAGTATATATTT TATATATAGTATATATGTTATATATAG	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35713908	T T	TATATTTT others(98): Show TATATTTTATATATAGTATATATGTTATATATAGTATATATTTTATATAT AGTATATATGTTATATATAGTATATATTTTATATATAGTATATATGTTAT ATATAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp2 HG02622.hp2 others(2): Show HG00673.hp1 HG02559.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0035 a0001c0003t0001g0078 a0001c0003t0001g0079 others(2): Show a0001c0003t0001g0035 a0001c0003t0001g0078 a0001c0003t0001g0079 a0002c0001t0001g0021 a0002c0001t0001g0263	5	268	0.0187	105	c.291 others(124): Show c.2914+1022_2914+1023insATATTTTATATATAGTATATATGTTA TATATAGTATATATTTTATATATAGTATATATGTTATATATAGTATATAT TTTATATATAGTATATATGTTATATATAG	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SREBF1_chr17_17806334_17841986	17808414	A A	ATTTTATT others(98): Show ATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0291 a0001c0001t0015g0291	1	352	0.0028	105	c.42 others(116): Show c.4207_*4208insAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAATAAAATAAAATAAAA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		2919		chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	A A	ATATACAT others(98): Show ATATACATTATATATTATATAATATACATTATATATTATATAATATACAT TATACATTATATAATATACAATATACATTATATATTATATAATATACATT ATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	365	0.0027	105	c.562 others(122): Show c.562-1042_562-1041insATATATAATGTATATTATATAATATATA ATGTATATTGTATATTATATAATGTATAATGTATATTATATAATATATAA TGTATATTATATAATATATAATGTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK1_chr6_35827966_35926098	35867968	T T	TTAATTAA others(98): Show TTAATTAATTAATTTAAGTTTTATTTAATTTAATTTTAATTTAATAATTG ATTTAATTAATTTTTTAATTAATTAATTTAATTTAATTTAATTTTTTAAT TTATAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	342	0.0029	105	c.151 others(124): Show c.1512+1041_1512+1042insTTATAAATTAAAAAATTAAATTAAAT TAAATTAATTAATTAAAAAATTAATTAAATCAATTATTAAATTAAAATTA AATTAAATAAAACTTAAATTAATTAATTA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	12/15			chr6	TogoVar
SS18L1_chr20_62138769_62187514	62160350	A A	AGAGAGGT others(98): Show AGAGAGGTGGGATGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGG GGTGGGGAGAGGTGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGG GGTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp1 others(11): Show HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03139.hp1 HG03540.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0012 a0002c0003t0005 a0001c0001t0003 a0001c0001t0012 a0002c0003t0005	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 others(9): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0012g0026 a0001c0001t0012g0033 a0002c0003t0005g0019	14	316	0.0443	105	c.231 others(120): Show c.231+414_231+415insATGGGGAGAGGTGGGGAGAGGTGGGGTGGG GAGAGGTGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGGGGTGGG GAGAGGTGGGATGGGGAGAGGTGGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62160350	A A	AGAGAGGT others(98): Show AGAGAGGTGGGTTGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGG GGTGGGGAGAGGTGGGGAGAGGTGGGATGGGGAGAGGTGGGGAGAGGTGG GGTGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	316	0.0032	105	c.231 others(120): Show c.231+399_231+400insTTGGGGAGAGGTGGGATGGGGAGAGGTGGG GAGAGGTGGGGTGGGGAGAGGTGGGGAGAGGTGGGATGGGGAGAGGTGGG GAGAGGTGGGGTGGGGAGAGGTGGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(98): Show CAAAATAAAATAAAGTACTAAAATAAATAAAATAAAATAATAAATAAAAT AAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAA TAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	358	0.0028	105	c.291 others(122): Show c.291-1518_291-1517insATTTTATTTTATATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTATTTTATTTTATTTATTATTTTATTTT ATTTATTTTAGTACTTTATTTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	ATAATATA others(98): Show ATAATATATAATATATAATATATAATATATAATATATAATATATATAATA TATTATATATAATATATATATTATATATTATATATATTATATATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0002 a0022c0031t0002	a0022c0031t0002g0199 a0022c0031t0002g0199	1	210	0.0048	105	c.132 others(126): Show c.13285-4566_13285-4565insTAATATATAATATATAATATATAA TATATAATATATAATATATATAATATATTATATATAATATATATATTATA TATTATATATATTATATATATATTATATATT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STK32C_chr10_132202492_132312950	132254445	A A	ATCAGCAC others(98): Show ATCAGCACTATGTCACCCCGGCACAATGCGTGCACCCTCCACGAAGGCTG CCCCCAGACCTGGGAGCCCAGGAGAGTAAAATAAGCCTGCCGCAGGGTGC CGGGAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18969.hp1 NA18939.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0232 a0001c0001t0001g0079 a0001c0001t0001g0232	2	368	0.0054	105	c.263 others(122): Show c.263-8595_263-8491dupCTCCCGGCACCCTGCGGCAGGCTTATTT TACTCTCCTGGGCTCCCAGGTCTGGGGGCAGCCTTCGTGGAGGGTGCACG CATTGTGCCGGGGTGACATAGTGCTGA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(98): Show TTATATAATATATTATATTTTATATCATATATTTTATATAAAATATATGA TATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCATAT ATTTTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18962.hp2 HG01123.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0002g0185 a0001c0001t0001g0186 a0001c0001t0002g0185	2	396	0.0051	105	c.52+ others(120): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATCATATATT TTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATAT GATATAAAATATAATATATTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(98): Show TTATATAATATATTATATTTTATATCATATATTTTATATAAAATATATGA TATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCATAT ATTTTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	396	0.0025	105	c.52+ others(120): Show c.52+2203_52+2307dupTAAAATATATGATATAAAATATAATATATT TTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATAT GATATAAAATATAATATATTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988367	T T	TAATATAT others(98): Show TAATATATGATATTTTATATCATATATTTTATATAAAATATATGATATTT TATATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTT ATATAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	396	0.0025	105	c.52+ others(120): Show c.52+2302_52+2303insTTATATAAAATATATGATATAAAATATCAT ATATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAA TATATGATATAAAATATCATATATT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988375	T T	TATATTTT others(98): Show TATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCAT ATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAA TATATG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18747.hp2 NA18959.hp2 others(6): Show NA18612.hp2 NA18747.hp2 NA18959.hp2 NA18973.hp1 NA18977.hp1 NA18998.hp1 NA19011.hp1 NA19012.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0205 others(4): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209	9	396	0.0227	105	c.52+ others(120): Show c.52+2294_52+2295insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTT ATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988445	T T	TATATTTT others(98): Show TATATTTTATATCATATATTTTATATATAATATATGATATTTTATATCAT ATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAA TATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 NA18972.hp2 others(3): Show HG01346.hp2 HG01358.hp1 NA18972.hp2 NA18974.hp1 NA19009.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0195 a0001c0001t0002g0196	6	396	0.0152	105	c.52+ others(120): Show c.52+2224_52+2225insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATCATATATTAT ATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988445	T T	TATATTTT others(98): Show TATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCAT ATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAA TATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00642.hp2 others(94): Show HG00280.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01099.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0002g0005 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0239	97	396	0.2450	105	c.52+ others(120): Show c.52+2224_52+2225insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATAATATATTAT ATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988445	T T	TATATTTT others(98): Show TATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCAT ATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATATAA TATATG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	396	0.0025	105	c.52+ others(120): Show c.52+2224_52+2225insCATATATTATATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATAATATATTAT ATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988623	A A	AATATATT others(98): Show AATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTT ATATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTA TATCAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02273.hp1 HG01981.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0053 a0001c0001t0001g0057	2	396	0.0051	105	c.52+ others(120): Show c.52+2046_52+2047insATGATATAAAATATATGATATAAAATATAA TATATTATATATAAAATATATGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STX7_chr6_132440867_132518116	132509448	T T	TTAAACTA others(98): Show TTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAA CTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAA CTAAAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	380	0.0026	105	c.-59 others(122): Show c.-59+3558_-59+3559insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTTTAGTTTA	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9430044	A A	ATTTATAT others(98): Show ATTTATATATAATATATATATATAATATATATTATATATTATATATATTA TATATATAATATATATATAATATATAATATATATTATATATATATATTAT ATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	188	0.0053	105	c.542 others(124): Show c.542-51392_542-51391insATATATATAATATATATATATAATAT ATATTATATATTATATATATATTATATATATAATATATATAATATATAAT ATATATTATATATATATATTATATATAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SULF2_chr20_47652406_47790481	47662852	C C	CGCAGGGT others(98): Show CGCAGGGTGATGGAGGCAAAAAGCAGGGTGATGGAGGCAAAAAGCAGGGT GATGGAGGCAAAAAGCAGGGTGATGGAGGCAAAAAGCAGGGTGATGGAGG CAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0356 a0001c0002t0003g0356	1	364	0.0028	105	c.237 others(122): Show c.2370+217_2370+218insTTTTTGCCTCCATCACCCTGCTTTTTGC CTCCATCACCCTGCTTTTTGCCTCCATCACCCTGCTTTTTGCCTCCATCA CCCTGCTTTTTGCCTCCATCACCCTGC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	17/20			chr20	TogoVar
SV2B_chr15_91095257_91307565	91158673	T T	TCCCTCCC others(98): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	214	0.0047	105	c.-39 others(126): Show c.-392+58311_-392+58312insCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158688	T T	TCCCTCCC others(98): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19062.hp1 HG02155.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0005 a0001c0001t0001 a0001c0010t0005	a0001c0001t0001g0032 a0001c0010t0005g0100 a0001c0001t0001g0032 a0001c0010t0005g0100	2	214	0.0094	105	c.-39 others(126): Show c.-392+58326_-392+58327insCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158698	T T	TCTCTTCC others(98): Show TCTCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	214	0.0047	105	c.-39 others(126): Show c.-392+58339_-392+58340insTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTCCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158698	T T	TCTCTTCT others(98): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT CCTCTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0073 a0001c0010t0073	a0001c0010t0073g0204 a0001c0010t0073g0204	1	214	0.0047	105	c.-39 others(126): Show c.-392+58339_-392+58340insTCTCTTCTCTTCTCTTCTCTTCTC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTCCTCTCCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76172426	G G	GGTCGGCC others(98): Show GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0109 a0001c0002t0109	a0001c0002t0109g0209 a0001c0002t0109g0209	1	234	0.0043	105	c.581 others(124): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGGGTG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNE1_chr6_152116687_152642362	152603857	A A	AGATAGAT others(98): Show AGATAGATAGATATACTATCTATCTATACATGCATGTATAGATAGATATA CTATCTATCTATACATGCATGTATAGATAGATATACTATCTATCTATACA TGCATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp1 homoSapiens_chm13v2.hp1 HG02258.hp1 HG03130.hp1 homoSapiens_chm13v2.hp1	a0058 a0084 a0128 a0058 a0084 a0128	a0058c0117 a0084c0026 a0128c0161 a0058c0117 a0084c0026 a0128c0161	a0058c0117t0004 a0084c0026t0002 a0128c0161t0001 a0058c0117t0004 a0084c0026t0002 a0128c0161t0001	a0058c0117t0004g0009 a0084c0026t0002g0005 a0128c0161t0001g0075 a0058c0117t0004g0009 a0084c0026t0002g0005 a0128c0161t0001g0075	3	174	0.0172	105	c.67+ others(122): Show c.67+24407_67+24408insCATGCATGTATAGATAGATAGTATATCT ATCTATACATGCATGTATAGATAGATAGTATATCTATCTATACATGCATG TATAGATAGATAGTATATCTATCTATC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(98): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATGTATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	420	0.0024	105	c.-64 others(114): Show c.-645_-644insTATATATATATATATATATATATATATATATATATA TATATATATATATATGTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
TBATA_chr10_70766238_70790377	70767584	A A	AAGAAAGA others(98): Show AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAA GAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0074 a0005c0014t0001g0074	1	410	0.0024	105	c.37 others(116): Show c.3791_*3792insCCTTTCTTCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3653		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767588	A A	AAGAAAGA others(98): Show AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAA GAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	410	0.0024	105	c.37 others(116): Show c.3787_*3788insCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3649		chr10	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(98): Show CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTC CCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTC CCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02523.hp1 NA18612.hp2 others(4): Show HG02132.hp2 HG02523.hp1 NA18612.hp2 NA18955.hp2 NA18984.hp1 NA18999.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0312 a0001c0001t0002g0273 a0001c0001t0014g0016 others(4): Show a0001c0001t0001g0312 a0001c0001t0002g0273 a0001c0001t0014g0016 a0001c0002t0001g0166 a0001c0002t0001g0195 a0001c0004t0001g0272 a0001c0006t0001g0130	7	334	0.0210	105	c.10 others(118): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGGAGAGGGGAGAGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar

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