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
SH3BP2_chr4_2788085_2846096	2802548	ATATATGT others(67): Show ATATATGTGTATATATGTATATATGTGTATATGTATATATATGTTTGTAT ATATGTGTATATATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 HG02486.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0077 a0001c0005t0006 a0001c0005t0077	a0001c0005t0006g0079 a0001c0005t0077g0078 a0001c0005t0006g0079 a0001c0005t0077g0078	2	378	0.0053	-74	c.-5+ others(89): Show c.-5+9412_-5+9485delATATGTGTATATATGTATATATGTGTATAT GTATATATATGTTTGTATATATGTGTATATATGTGTATATATGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	413217	AGCTGATT others(67): Show AGCTGATTCCCGGGGCATCCTGGCCCCTCCACGGCACCAGCTGATTCCCG GGGATCCTGGCCCTCTATGGCACCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02148.hp1 HG02273.hp2 HG01943.hp1 HG02148.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0008g0119 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0008g0119	3	212	0.0142	-74	c.40 others(85): Show c.4037_*4110delCGGTGCCATAGAGGGCCAGGATCCCCGGGAATCA GCTGGTGCCGTGGAGGGGCCAGGATGCCCCGGGAATCAGC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding		3371		chr19	TogoVar
SLC13A3_chr20_46552828_46656459	46600333	AAGGAAGG others(67): Show AAGGAAGGAAAGGAAAAGAAAGGAAAGGAAAGAAAAGGAAGGGAAAGGAA AGGGAGGGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0374 a0001c0002t0002g0374	1	390	0.0026	-74	c.542 others(89): Show c.542-370_542-297delCCTTTCTTTCTTTCTTTCCCTCCCTTTCCT TTCCCTTCCTTTTCTTTCCTTTCCTTTCTTTTCCTTTCCTTCCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12			chr20	TogoVar
SLC17A7_chr19_49424401_49446527	49427646	GGGAGGGG others(67): Show GGGAGGGGCTGGGGGCCTGGACTCCTGGGTCCGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTGCGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0137 a0001c0001t0001g0148	2	414	0.0048	-74	c.27 others(85): Show c.2799_*2872delTCCCTCGCACCCAGGAGTCCAGGCCCCCAGCCCC TCCTCCCTCGGACCCAGGAGTCCAGGCCCCCAGCCCCTCC	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		1754		chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928542	CTTTCTTT others(67): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0381 a0001c0004t0001g0381	1	396	0.0025	-74	c.108 others(93): Show c.1083+4452_1084-4510delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A1_chr1_42920353_42963868	42963118	AGTTTTGT others(67): Show AGTTTTGTGTGTTTAATGTTTTCATTCTGATTTGCACATCTGCTTGAACC ACCTGCTTTCAGAAAGCTTTTCGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	396	0.0025	-74	c.-45 others(85): Show c.-4541_-4468delGCCGAAAAGCTTTCTGAAAGCAGGTGGTTCAAGC AGATGTGCAAATCAGAATGAAAACATTAAACACACAAAAC	SLC2A1	ENSG00000117394.24	transcript	ENST00000426263.10	protein_coding		4251		chr1	TogoVar
SLC43A3_chr11_57401954_57432121	57403440	AGAAGAGG others(67): Show AGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGG AAGAAGAGGAAGAAGAAAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02965.hp2 HG03130.hp1 others(3): Show HG02027.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0005 a0001c0007t0009 a0001c0009t0018 a0001c0001t0005 a0001c0007t0009 a0001c0009t0018	a0001c0001t0005g0013 a0001c0001t0005g0081 a0001c0001t0005g0083 others(2): Show a0001c0001t0005g0013 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0007t0009g0022 a0001c0009t0018g0045	6	330	0.0182	-74	c.42 others(85): Show c.4278_*4351delCTCTTCTTTTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3513		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79920228	GAGGAGAG others(67): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18980.hp1 HG02027.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0126 a0001c0001t0004g0133	2	352	0.0057	-74	c.392 others(89): Show c.392-902_392-829delACTGACCTTGACCTCTCCCTCGGTTCCTGT CTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCTCTCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920345	AGAGACGG others(67): Show AGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0006 a0004c0002t0006	a0004c0002t0006g0255 a0004c0002t0006g0255	1	352	0.0028	-74	c.392 others(90): Show c.392-1019_392-946delCCACTGACCTTGACCTCTCCCTCGGTTCC TGTCTCTCCTCCACTGACCTTGACCTCTCCCTCGGTTCCCGTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238375	CTGGGGCC others(67): Show CTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGG AAAGAGGTCAGGTTTGGAGTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02630.hp2 HG02071.hp1 HG02630.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0008 a0001c0002 a0006c0008	a0001c0002t0002 a0006c0008t0004 a0001c0002t0002 a0006c0008t0004	a0001c0002t0002g0125 a0006c0008t0004g0194 a0001c0002t0002g0125 a0006c0008t0004g0194	2	456	0.0044	-74	c.732 others(89): Show c.732+356_732+429delGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG AGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238506	ATCAGGTT others(67): Show ATCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCTTGGGGCCTCAGGAAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0217 a0004c0003t0003g0217	1	456	0.0022	-74	c.732 others(89): Show c.732+501_732+574delTTGGGGCCTCAGGAAAGAGGTCAGGTTTGG AGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLCO4A1_chr20_62637503_62677293	62638469	GTCGGCGG others(67): Show GTCGGCGGGTTAAATGCAGTGTTATTTACATATGGTTTATCTGGGCATCT ATAATCCCAGGGCGAGAGCCCACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	432	0.0023	-74	c.-41 others(85): Show c.-4180_-4107delTCGGCGGGTTAAATGCAGTGTTATTTACATATGG TTTATCTGGGCATCTATAATCCCAGGGCGAGAGCCCACCA	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding		4033		chr20	TogoVar
SLX9_chr21_44935029_44981973	44980722	GAGAGCCG others(67): Show GAGAGCCGCCTCCCTCAGGCTGCAGGGCAGGGTCCTTCTTTGCCTGTCCG GCTGCTGGTGATTACTTGTGTTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	334	0.0030	-74	c.39 others(85): Show c.3920_*3993delAGAGCCGCCTCCCTCAGGCTGCAGGGCAGGGTCC TTCTTTGCCTGTCCGGCTGCTGGTGATTACTTGTGTTTCT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		3750		chr21	TogoVar
SMCO1_chr3_196501879_196520346	196511109	TTGCCTGG others(67): Show TTGCCTGGGCCACCTAGATTGTCTTTATGAGGGAAACTTGCCTGAGCCAC CTAGATTGTCCTTATGAGGGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG01255.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0056 a0004c0004t0003g0059 a0004c0004t0003g0056 a0004c0004t0003g0059	2	398	0.0050	-74	c.51- others(89): Show c.51-1514_51-1441delGGTTTCCCTCATAAGGACAATCTAGGTGGC TCAGGCAAGTTTCCCTCATAAAGACAATCTAGGTGGCCCAGGCA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511294	TTGCCTGG others(67): Show TTGCCTGGGCCACCTAGATTGTCTTTATGAGGGAAACTTGCCTGCGCCAA GTAGATTGTTGTTATGAGGGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp2 HG01975.hp1 others(19): Show HG01884.hp1 HG01934.hp2 HG01975.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1 NA20129.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0003 a0006c0006t0003 a0003c0003t0003 a0006c0006t0003	a0003c0003t0003g0007 a0003c0003t0003g0058 a0003c0003t0003g0166 others(10): Show a0003c0003t0003g0007 a0003c0003t0003g0058 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0006c0006t0003g0026 a0006c0006t0003g0027 a0006c0006t0003g0060	22	398	0.0553	-74	c.51- others(89): Show c.51-1699_51-1626delGGTTTCCCTCATAACAACAATCTACTTGGC GCAGGCAAGTTTCCCTCATAAAGACAATCTAGGTGGCCCAGGCA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511825	CTAGATTG others(67): Show CTAGATTGTTGTTATGAGGGAAACCTGCCTGGGCTGCCTAGATTGTCTTT ATGAGGGAAACTTGCCTGCGCCAAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0058 a0003c0003t0003g0058	1	398	0.0025	-74	c.51- others(89): Show c.51-2230_51-2157delCTTGGCGCAGGCAAGTTTCCCTCATAAAGA CAATCTAGGCAGCCCAGGCAGGTTTCCCTCATAACAACAATCTA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMIM14_chr4_39541336_39643865	39619358	ATATATCA others(67): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18971.hp1 HG02071.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0076 a0001c0001t0002g0029 a0001c0001t0002g0076	2	344	0.0058	-74	c.-35 others(93): Show c.-35-14252_-35-14179delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATATATAGAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619480	CTATATCA others(67): Show CTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTCT ATATCAATAAATATAATTTATTCTA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	344	0.0029	-74	c.-35 others(93): Show c.-35-14374_-35-14301delTAGAATAAATTATATTTATTGATATA GAATAAATTATATTTATTGATATAGAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SNTG1_chr8_49906407_50801692	50734800	TATATATA others(67): Show TATATATAGATATCTATATATATGGACATATATATATCTATATATATGGA CATATATATATCTATATATATGGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02896.hp2 others(2): Show HG02055.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0032 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0032 a0001c0002t0010	a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 others(2): Show a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0032g0052 a0001c0002t0010g0012	5	106	0.0472	-74	c.128 others(95): Show c.1285-17193_1285-17120delGATATCTATATATATGGACATATA TATATCTATATATATGGACATATATATATCTATATATATGGACATATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1012958	AGGGCAGA others(67): Show AGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0107 a0002c0005t0001g0107	1	190	0.0053	-74	c.72+ others(91): Show c.72+61913_72+61986delTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013536	GAGAGGGA others(67): Show GAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0167 a0002c0005t0001g0167	1	190	0.0053	-74	c.72+ others(91): Show c.72+62505_72+62578delTAGAGGGATTTATAAGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013698	TGGGCAGA others(67): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0098 a0002c0003t0001g0098	1	190	0.0053	-74	c.72+ others(91): Show c.72+62690_72+62763delTAGAGGGATTTATAAGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013758	TAGAGGGA others(67): Show TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0095 a0003c0008t0001g0095	1	190	0.0053	-74	c.72+ others(91): Show c.72+62768_72+62841delGGGATTTATAAGGGCAGAGAGAAGGGTG GTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014063	TTATATGG others(67): Show TTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGGAGAAGGATC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0001 a0016c0034t0001	a0016c0034t0001g0146 a0016c0034t0001g0146	1	190	0.0053	-74	c.72+ others(91): Show c.72+63023_72+63096delGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAAGGATCTATATGGGCAGAGAGAAGGGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014091	GAGAGGGA others(67): Show GAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATCTAT ATGGGCAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03942.hp2 NA18942.hp2 others(1): Show HG02015.hp2 HG03942.hp2 NA18942.hp2 NA20905.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0005 a0006c0010 a0008c0011 a0002c0005 a0006c0010 a0008c0011	a0002c0005t0001 a0006c0010t0001 a0008c0011t0001 a0002c0005t0001 a0006c0010t0001 a0008c0011t0001	a0002c0005t0001g0114 a0006c0010t0001g0006 a0006c0010t0001g0009 others(1): Show a0002c0005t0001g0114 a0006c0010t0001g0006 a0006c0010t0001g0009 a0008c0011t0001g0188	4	190	0.0211	-74	c.72+ others(91): Show c.72+63069_72+63142delCTATATGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222517	TCCTGCCT others(67): Show TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAG TGATGGAGGGCGTCTCCCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0054 a0004c0014t0001g0054	1	190	0.0053	-74	c.719 others(93): Show c.719+13293_719+13366delCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223147	TCCTGCCT others(67): Show TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGCGTCTCCCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0121 a0006c0009t0001g0121	1	190	0.0053	-74	c.719 others(93): Show c.719+13923_719+13996delCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842509	AGAGAGAG others(67): Show AGAGAGAGAGAGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAG AGCGAGAGAGAGAGAGAGAGAGCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	306	0.0033	-74	c.-55 others(83): Show c.-558_-485delACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCTC CCTCGCTCGTTTTCTTTCTCTTTCTCTCTCTCTCTCTC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		325		chr8	TogoVar
SNX3_chr6_108206222_108266040	108221233	CTCCCCTG others(67): Show CTCCCCTGGCACTTCCTACTTCCCTTAGTTTAGCTTTGTTTTTTTTTTTA GAGCTTCTCATCATCTGACATCTAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19066.hp2 HG00621.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0196 a0001c0001t0001g0045 a0001c0001t0001g0196	2	356	0.0056	-74	c.258 others(91): Show c.258+1643_258+1716delATAGATGTCAGATGATGAGAAGCTCTAA AAAAAAAAACAAAGCTAAACTAAGGGAAGTAGGAAGTGCCAGGGGA	SNX3	ENSG00000112335.15	transcript	ENST00000230085.13	protein_coding	2/3			chr6	TogoVar
SOGA1_chr20_36772447_36868538	36858319	CACACACA others(67): Show CACACACACACACACACACACACACACACACACTGGCTGCACTTCACTCA CATCTAGAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	282	0.0036	-74	c.687 others(91): Show c.687+4265_687+4338delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(67): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 NA18947.hp2 others(1): Show HG02572.hp1 HG02630.hp2 NA18947.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0050 a0001c0009t0001 a0001c0001t0002 a0001c0001t0050 a0001c0009t0001	a0001c0001t0002g0147 a0001c0001t0050g0145 a0001c0009t0001g0144 others(1): Show a0001c0001t0002g0147 a0001c0001t0050g0145 a0001c0009t0001g0144 a0001c0009t0001g0146	4	282	0.0142	-74	c.687 others(91): Show c.687+4191_687+4264delGTGTTTTCCCTCCTTGGTGATTCTAGAT GTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SPATA33_chr16_89652836_89675458	89657326	TCGGGAAA others(67): Show TCGGGAAAAGGGGTCCCAGGTCGGTGGTCGAGGCCCTGGGGATGGGGTCC GGGTCGGGGATCGGGGGACGACGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	422	0.0024	-74	c.-58 others(83): Show c.-585_-512delCGGGAAAAGGGGTCCCAGGTCGGTGGTCGAGGCCCT GGGGATGGGGTCCGGGTCGGGGATCGGGGGACGACGAC	SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding		509		chr16	TogoVar
SPINK6_chr5_148198042_148220137	148210294	ATGTTTCT others(67): Show ATGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT GTTTCTGCATACATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp1 NA18906.hp2 HG03471.hp1 HG03516.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	3	438	0.0069	-74	c.82- others(89): Show c.82-3566_82-3493delGTTTCTGCATACATATATATGTATGTGTTT CTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRGAP2C_chr1_121179975_121397874	121239208	ATATATAT others(67): Show ATATATATATATATATATATACTATATATATATATATACTATATATATAT ATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00735.hp2 others(25): Show HG00140.hp2 HG00733.hp1 HG00735.hp2 HG01106.hp1 HG01192.hp2 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG02040.hp1 HG02129.hp1 HG02165.hp2 HG02572.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG04228.hp1 NA18964.hp1 NA18968.hp2 NA19003.hp1 NA19007.hp2 NA19030.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0043 a0001c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 others(25): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0193 a0001c0001t0007g0203 a0001c0001t0013g0196 a0001c0001t0014g0218 a0001c0001t0016g0166 a0001c0001t0016g0185 a0001c0001t0043g0132 a0001c0008t0001g0122	28	274	0.1022	-74	c.68- others(91): Show c.68-45576_68-45503delTACTATATATATATATATACTATATATA TATATATATATACTATATATATATATACTATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372898	CCTTTCTT others(67): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG00621.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0037 a0001c0004t0008 a0001c0002t0037 a0001c0004t0008	a0001c0002t0037g0179 a0001c0004t0008g0065 a0001c0002t0037g0179 a0001c0004t0008g0065	2	182	0.0110	-74	c.424 others(93): Show c.424-11059_424-10986delCTTTTCTTTCCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SSC5D_chr19_55483436_55524099	55508741	TGGGGGGA others(67): Show TGGGGGGAGGCCTCCTGAGGGCATGGCCTGTGGACTAACTCCTATACAGC AGGGATGGCCTCATCCACAGGGGAT	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00639.hp1 others(77): Show HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19063.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0010 a0011 a0013 a0014 a0025 a0029 a0031 a0033 a0034 a0040 a0053 a0055	a0001c0006 a0002c0002 a0002c0003 others(22): Show a0001c0006 a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0047 a0002c0064 a0002c0099 a0002c0103 a0004c0014 a0010c0025 a0010c0055 a0010c0091 a0011c0019 a0011c0051 a0013c0072 a0014c0058 a0025c0035 a0029c0031 a0031c0107 a0033c0082 a0034c0083 a0040c0066 a0053c0097 a0055c0095	a0001c0006t0001 a0001c0006t0002 a0002c0002t0002 others(24): Show a0001c0006t0001 a0001c0006t0002 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0023t0002 a0002c0045t0002 a0002c0047t0002 a0002c0064t0002 a0002c0099t0002 a0002c0103t0002 a0004c0014t0001 a0010c0025t0001 a0010c0055t0001 a0010c0091t0001 a0011c0019t0002 a0011c0051t0002 a0013c0072t0001 a0014c0058t0001 a0025c0035t0001 a0029c0031t0002 a0031c0107t0002 a0033c0082t0002 a0034c0083t0001 a0040c0066t0001 a0053c0097t0001 a0055c0095t0002	a0001c0006t0001g0234 a0001c0006t0001g0269 a0001c0006t0001g0270 others(77): Show a0001c0006t0001g0234 a0001c0006t0001g0269 a0001c0006t0001g0270 a0001c0006t0001g0347 a0001c0006t0002g0324 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0258 a0002c0002t0002g0264 a0002c0002t0002g0268 a0002c0002t0002g0274 a0002c0002t0002g0282 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0308 a0002c0002t0002g0398 a0002c0002t0003g0207 a0002c0003t0002g0028 a0002c0003t0002g0041 a0002c0003t0002g0045 a0002c0003t0002g0099 a0002c0003t0002g0101 a0002c0003t0002g0121 a0002c0003t0002g0131 a0002c0003t0002g0152 a0002c0003t0002g0385 a0002c0023t0002g0059 a0002c0023t0002g0089 a0002c0023t0002g0109 a0002c0045t0002g0403 a0002c0047t0002g0307 a0002c0064t0002g0114 a0002c0099t0002g0236 a0002c0103t0002g0275 a0004c0014t0001g0040 a0004c0014t0001g0043 a0004c0014t0001g0075 a0004c0014t0001g0100 a0004c0014t0001g0103 a0004c0014t0001g0108 a0010c0025t0001g0147 a0010c0055t0001g0132 a0010c0091t0001g0389 a0011c0019t0002g0321 a0011c0019t0002g0357 a0011c0019t0002g0383 a0011c0019t0002g0397 a0011c0051t0002g0388 a0013c0072t0001g0151 a0014c0058t0001g0102 a0025c0035t0001g0044 a0025c0035t0001g0098 a0029c0031t0002g0182 a0031c0107t0002g0074 a0033c0082t0002g0315 a0034c0083t0001g0280 a0040c0066t0001g0343 a0053c0097t0001g0217 a0055c0095t0002g0106	80	412	0.1942	-74	c.278 others(93): Show c.2786-4264_2786-4191delGAGGCCTCCTGAGGGCATGGCCTGTG GACTAACTCCTATACAGCAGGGATGGCCTCATCCACAGGGGATGGGGG	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277545	TATATATA others(67): Show TATATATATATATATATATATATACACACACACATATGTTTATGTGTATA TATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp1 HG00639.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0093 a0002c0002t0001g0050 a0001c0001t0006g0093 a0002c0002t0001g0050	2	102	0.0196	-74	c.19- others(91): Show c.19-36258_19-36185delTATATATATATATATATATATACACACA CACATATGTTTATGTGTATATATATATATATATATATACACACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STIM1_chr11_3850664_4098208	3895614	CTTTCTTT others(67): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02257.hp1 NA18995.hp1 HG02132.hp2 HG02257.hp1 NA18995.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0004 a0006c0012t0003 a0001c0001t0004 a0006c0012t0003	a0001c0001t0004g0066 a0001c0001t0004g0281 a0006c0012t0003g0295 a0001c0001t0004g0066 a0001c0001t0004g0281 a0006c0012t0003g0295	3	300	0.0100	-74	c.139 others(93): Show c.139+39207_139+39280delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895662	CTTTCTTT others(67): Show CTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	300	0.0033	-74	c.139 others(93): Show c.139+39264_139+39337delTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895673	TCCTTCCT others(67): Show TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01978.hp2 others(11): Show HG00438.hp2 HG01069.hp2 HG01978.hp2 HG02135.hp1 HG03654.hp2 NA18945.hp1 NA18963.hp1 NA18972.hp1 NA19001.hp2 NA19056.hp1 NA19062.hp2 NA19068.hp1 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0032	a0001c0001t0001g0136 a0001c0001t0001g0197 a0001c0001t0002g0072 others(11): Show a0001c0001t0001g0136 a0001c0001t0001g0197 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0004g0041 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0005g0045 a0001c0001t0005g0050 a0001c0001t0005g0067 a0001c0001t0007g0069 a0001c0001t0008g0058 a0001c0001t0032g0074	14	300	0.0467	-74	c.139 others(93): Show c.139+39266_139+39339delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32C_chr10_132202492_132312950	132284278	GCAGGTGA others(67): Show GCAGGTGAGGTTGGGGGGGGCAGGTGAGGTTGGGGGGGCAGGTGAGGTTG GGGGGGCAGGTGAGGTTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG01106.hp1 others(44): Show HG00280.hp2 HG00423.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18983.hp2 NA19004.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0024 a0002c0004 a0003c0007 a0003c0027 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0004 a0001c0009t0005 a0001c0024t0004 a0002c0004t0003 a0003c0007t0009 a0003c0027t0020 a0006c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0031 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0230 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0315 a0001c0001t0004g0117 a0001c0001t0004g0332 a0001c0001t0005g0080 a0001c0001t0005g0351 a0001c0002t0002g0101 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0192 a0001c0002t0002g0249 a0001c0002t0002g0291 a0001c0002t0002g0317 a0001c0002t0003g0324 a0001c0003t0004g0253 a0001c0003t0004g0254 a0001c0003t0004g0255 a0001c0009t0005g0011 a0001c0009t0005g0012 a0001c0024t0004g0147 a0002c0004t0003g0119 a0003c0007t0009g0365 a0003c0027t0020g0364 a0006c0022t0001g0290	47	368	0.1277	-74	c.262 others(93): Show c.262+23220_262+23293delTTCCCCCCAACCTCACCTGCCCCCCC AACCTCACCTGCCCCCCCAACCTCACCTGCCCCCCCCAACCTCACCTG	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STON1_chr2_48525154_48603513	48564484	TTCTTCTT others(67): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0321 a0003c0004t0004g0321	1	376	0.0027	-74	c.-47 others(93): Show c.-47-16101_-47-16028delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183956365	TATCTATC others(67): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCACCTAT CTGTCGATCTATCATTCTATCATTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0317 a0001c0001t0035g0317	1	318	0.0031	-74	c.167 others(93): Show c.167-44916_167-44843delACCTATCTGTCGATCTATCATTCTAT CATTCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
SV2C_chr5_76078383_76338956	76172126	CTCCGCCC others(67): Show CTCCGCCCGGCCAGCCGCCCCGTCTGAGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0012 a0001c0001t0117g0012	1	234	0.0043	-74	c.581 others(93): Show c.581-22792_581-22719delTCCGCCCGGCCAGCCGCCCCGTCTGA GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12			chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390217	GTATATAT others(67): Show GTATATATACTTATATAAGTATGTGTATATATACTTATATAAGTATGTAT ATATATACTTATATATATACATACT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0285 a0009c0010t0001g0285	1	362	0.0028	-74	c.982 others(91): Show c.9823-704_9823-631delAGTATGTATATATATAAGTATATATATA CATACTTATATAAGTATATATACACATACTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313748	TATATATA others(67): Show TATATATATCCATATATATATCCATATATATATATCCATATATATATATC CATATATATATCCATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0238 a0001c0001t0009g0238	1	246	0.0041	-74	c.84+ others(91): Show c.84+35015_84+35088delCCATATATATATCCATATATATATATCC ATATATATATATCCATATATATATCCATATATATATCCATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595759	ATATATAT others(67): Show ATATATATATAATTTTATATATATATAGTTATATATATATAGTTATATAT ATATATAGTTTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04204.hp2 NA19085.hp1 HG02486.hp1 HG04204.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0185 a0001c0001t0002g0181 a0001c0001t0003g0214 a0001c0001t0001g0185 a0001c0001t0002g0181 a0001c0001t0003g0214	3	246	0.0122	-74	c.409 others(93): Show c.409-13355_409-13282delATTTTATATATATATAGTTATATATA TATAGTTATATATATATATAGTTTTATATATATATAGTTATATATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT3_chr19_50616977_50644881	50625733	CGACCCAG others(67): Show CGACCCAGGAGTCCAGGCCCCTGGCCCCTCCTCCCTCAGACCCAGGAGTC CAGATCCCCAGCTCCTCCTCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp2 NA18989.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0011t0001 a0001c0012t0005 a0001c0014t0003 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0052 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0228 a0001c0001t0003g0257 a0001c0001t0004g0106 a0001c0001t0004g0194 a0001c0001t0006g0032 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0012g0186 a0001c0001t0014g0214 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0003t0003g0227 a0001c0003t0003g0253 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0147 a0001c0004t0001g0149 a0001c0004t0002g0050 a0001c0004t0002g0077 a0001c0004t0002g0084 a0001c0004t0010g0067 a0001c0011t0001g0151 a0001c0012t0005g0229 a0001c0014t0003g0242 a0002c0006t0001g0018 a0002c0006t0001g0130 a0002c0006t0001g0132 a0002c0006t0001g0170	203	388	0.5232	-74	c.140 others(90): Show c.1402+90_1402+163delTGAGGGAGGAGGAGCTGGGGATCTGGACT CCTGGGTCTGAGGGAGGAGGGGCCAGGGGCCTGGACTCCTGGGTC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	7/10			chr19	TogoVar
TAB3_chrX_30822442_30894254	30868493	ATAGCTTA others(67): Show ATAGCTTATATATATATATATAGCTTATATATATATATATATAGCTTATA TATATATATATATATATATATAGCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	302	0.0033	-74	c.-27 others(92): Show c.-279-1018_-279-945delAGCTATATATATATATATATATATATA TAAGCTATATATATATATATATAAGCTATATATATATATATAAGCTA	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TAB3_chrX_30822442_30894254	30868520	TATATATA others(67): Show TATATATATATATATAGCTTATATATATATATATATATATATATAGCTTA TATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp2 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	2	302	0.0066	-74	c.-27 others(92): Show c.-279-1045_-279-972delCTCTCTCTATATATATATATATATATA AGCTATATATATATATATATATATATATAAGCTATATATATATATAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar

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