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
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG01975.hp1 others(1): Show HG00438.hp2 HG01192.hp2 HG01975.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0038 a0001c0001t0002 a0001c0001t0006 a0001c0001t0038	a0001c0001t0002g0227 a0001c0001t0006g0030 a0001c0001t0006g0213 others(1): Show a0001c0001t0002g0227 a0001c0001t0006g0030 a0001c0001t0006g0213 a0001c0001t0038g0265	4	362	0.0111	48	c.132 others(67): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0156 a0002c0003t0002g0156	1	240	0.0042	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTTCCT TCCTTCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0180 a0001c0002t0005g0180	1	240	0.0042	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0150 a0002c0003t0008g0150	1	240	0.0042	48	c.394 others(65): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTGCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAP2_chr19_4319043_4343827	4322649	T T	TGGGGGGG others(41): Show TGGGGGGGAGGGGGGGAGATGAGCGGGGGGGGGCCCAGAGGAGTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	388	0.0026	48	c.14 others(59): Show c.1483_*1484insCAGATACTCCTCTGGGCCCCCCCCCGCTCATCTC CCCCCCTCCCCCCC	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1393		chr19	TogoVar
STARD3_chr17_39632144_39669201	39640729	C C	CAGGGCCT others(41): Show CAGGGCCTGGCACAAGGGGGAAGGGAGGGCAAGTAGATCTCAGTGTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	316	0.0032	48	c.-52 others(65): Show c.-52+3503_-52+3550dupCCTGGCACAAGGGGGAAGGGAGGGCAAG TAGATCTCAGTGTGTTAGGG	STARD3	ENSG00000131748.16	transcript	ENST00000336308.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
STARD7_chr2_96179859_96213827	96197067	A A	AAACTAAA others(41): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp1 NA18943.hp2 others(8): Show HG00609.hp2 HG01361.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp1 NA18986.hp1 NA18990.hp1 NA19003.hp2 NA19010.hp1 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0188 others(6): Show a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0188 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0247	11	358	0.0307	48	c.291 others(65): Show c.291-1519_291-1518insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197072	A A	AAACTAAA others(41): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	358	0.0028	48	c.291 others(65): Show c.291-1524_291-1523insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	268	0.0037	48	c.210 others(65): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT5B_chr17_42194177_42281391	42262778	A A	ATATATAT others(41): Show ATATATATACACATATATATGTGTGTATATATACACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04115.hp1 HG03688.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0128 a0001c0001t0003g0027 a0001c0001t0001g0128 a0001c0001t0003g0027	2	260	0.0077	48	c.-11 others(67): Show c.-11+13422_-11+13469dupCACATATATATGTGTGTATATATACA CACATATATATGTGTATATATA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0141 a0002c0002t0002g0303 a0001c0001t0002g0141 a0002c0002t0002g0303	2	384	0.0052	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0291	1	384	0.0026	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	384	0.0026	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	384	0.0026	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02040.hp2 HG02109.hp1 others(4): Show HG01952.hp2 HG02040.hp2 HG02109.hp1 NA18955.hp1 NA18978.hp2 NA18997.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0148 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0148 a0002c0002t0001g0284 a0002c0002t0002g0229 a0002c0002t0002g0305 a0002c0002t0002g0316	7	384	0.0182	48	c.762 others(67): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26880600	C C	CATATATA others(41): Show CATATATATAAATATATATGTAAATATATATATAAATATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02451.hp1 others(6): Show HG01192.hp2 HG02109.hp1 HG02451.hp1 HG02818.hp2 HG02965.hp2 HG03831.hp2 HG03834.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0003g0163 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0003g0163 a0001c0001t0003g0201 a0001c0001t0005g0003 a0001c0001t0015g0330 a0001c0001t0015g0331 a0001c0001t0015g0332 a0001c0001t0015g0333	9	336	0.0268	48	c.151 others(67): Show c.151+19262_151+19309dupATAAATATATATGTAAATATATATAT AAATATATATGTAAATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26880655	A A	ATAAATAT others(41): Show ATAAATATATATGTAAATATATATATAAATATATATGTAAATATATATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	336	0.0030	48	c.151 others(67): Show c.151+19309_151+19310insATAAATATATATGTAAATATATATGT AAATATATATGTAAATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(41): Show AGTTGTGGGGGCGTCCTGTGCATTTGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02630.hp2 others(12): Show HG02280.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0031	a0001c0001t0034 a0001c0002t0018 a0001c0003t0001 others(9): Show a0001c0001t0034 a0001c0002t0018 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0006t0004 a0001c0006t0011 a0001c0007t0001 a0001c0007t0004 a0001c0008t0009 a0001c0010t0007 a0001c0031t0014	a0001c0001t0034g0007 a0001c0002t0018g0005 a0001c0003t0001g0217 others(12): Show a0001c0001t0034g0007 a0001c0002t0018g0005 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0011g0024 a0001c0004t0001g0015 a0001c0004t0001g0101 a0001c0006t0004g0054 a0001c0006t0011g0082 a0001c0007t0001g0040 a0001c0007t0001g0041 a0001c0007t0004g0138 a0001c0008t0009g0231 a0001c0010t0007g0050 a0001c0031t0014g0135	15	232	0.0647	48	c.198 others(67): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACAA ATGCACAGGACGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(41): Show AGTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0062 a0001c0006t0003g0062	1	232	0.0043	48	c.198 others(67): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACTA ACGCACAGGACGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089399	T T	TGGATGGA others(41): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0217 a0001c0003t0001g0218	2	232	0.0086	48	c.168 others(65): Show c.1685+832_1685+833insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19085.hp1 HG01943.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0166 a0002c0003t0001g0161 a0002c0003t0001g0166	2	404	0.0050	48	c.483 others(65): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	404	0.0025	48	c.483 others(65): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32C_chr10_132202492_132312950	132250313	A A	AGAGAGGG others(41): Show AGAGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(16): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp2 HG02071.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 NA19030.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0021 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0018 a0001c0006t0002 a0001c0011t0019 a0001c0021t0002 a0001c0023t0003	a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0293 a0001c0001t0004g0050 a0001c0003t0018g0191 a0001c0006t0002g0036 a0001c0006t0002g0056 a0001c0006t0002g0186 a0001c0006t0002g0339 a0001c0011t0019g0196 a0001c0021t0002g0284 a0001c0023t0003g0292	19	368	0.0516	48	c.263 others(65): Show c.263-4406_263-4359dupCTCTCTGCAGTGACCTGTCCCGTGCGCC TCACACACACCTGCCCTCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132253525	C C	CGGAGGGA others(41): Show CGGAGGGAGCTGGAGGGAGTCGAGGGAGCTGGAGGGAGTCGAGGGAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	368	0.0027	48	c.263 others(65): Show c.263-7618_263-7571dupAGCTCCCTCGACTCCCTCCAGCTCCCTC GACTCCCTCCAGCTCCCTCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	334	0.0030	48	c.947 others(63): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0026 a0001c0003t0034g0026	1	376	0.0027	48	c.-48 others(67): Show c.-48+25115_-48+25116insACCTCCCTCCCGGACGGGGCTGCTGG CCGGGCGGGGGGCTGACGCCCC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0280 a0001c0001t0012g0280	1	302	0.0033	48	c.-43 others(57): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0046 a0003c0003t0003g0046	1	380	0.0026	48	c.205 others(65): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(41): Show ATATATATATATATATATATATATCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0320	1	350	0.0029	48	c.-35 others(57): Show c.-356_-355insGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATA TATATATATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023145	C C	CTCTCTCT others(41): Show CTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0314 a0001c0001t0029g0314	1	350	0.0029	48	c.-47 others(57): Show c.-473_-472insAGAGGAGAGAGGAGAGAGGAGAGAGAGAGAGAAGAG AGAGGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		276		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771862	C C	CATATATA others(41): Show CATATATAAATACATATGATATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02717.hp1 NA20129.hp2 HG00642.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300	3	334	0.0090	48	c.439 others(63): Show c.439-803_439-802insATATATAAATACATATGATATCTATATATC ATATATAAATACATATGA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18			chr1	TogoVar
SUGT1_chr13_52647836_52705909	52702972	A A	ATTTATCT others(41): Show ATTTATCTTCGACTGCATTTTTCTTTATCCTAGTGCTGTTTCCCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0002 a0001c0001t0071g0002	1	310	0.0032	48	c.15 others(61): Show c.15137_*15138insTTTATCTTCGACTGCATTTTTCTTTATCCTAG TGCTGTTTCCCTGGAG	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		2064		chr13	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(41): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	262	0.0038	48	c.912 others(65): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(41): Show GCCTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	262	0.0038	48	c.102 others(69): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0001g0034 a0001c0001t0001g0082	2	338	0.0059	48	c.706 others(65): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SV2C_chr5_76078383_76338956	76172080	T T	TGCCCGGC others(41): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 HG03195.hp2 others(4): Show HG02083.hp1 HG02523.hp1 HG03195.hp2 NA19007.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 a0001c0001 a0001c0009 a0003c0004	a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 others(4): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0001c0009t0076 a0003c0004t0019 a0003c0004t0058	a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 others(4): Show a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0001c0009t0076g0213 a0003c0004t0019g0145 a0003c0004t0058g0051	7	234	0.0299	48	c.581 others(67): Show c.581-22823_581-22822insCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172289	G G	GGGGGGGT others(41): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 NA19007.hp1 others(2): Show HG02083.hp1 HG02523.hp1 NA19007.hp1 NA19081.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 others(2): Show a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0003c0004t0019 a0003c0004t0058	a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 others(2): Show a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0003c0004t0019g0145 a0003c0004t0058g0051	5	234	0.0214	48	c.581 others(67): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172408	C C	CCGGGAGG others(41): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18951.hp2 NA18975.hp1 others(1): Show HG02015.hp2 NA18951.hp2 NA18975.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 a0002c0003t0059	a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 others(1): Show a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 a0002c0003t0059g0043	4	234	0.0171	48	c.581 others(67): Show c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCGGGAGGGAGGTGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(41): Show CTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19080.hp2 NA19010.hp1 NA19080.hp2	a0009 a0016 a0009 a0016	a0009c0010 a0016c0012 a0009c0010 a0016c0012	a0009c0010t0003 a0016c0012t0003 a0009c0010t0003 a0016c0012t0003	a0009c0010t0003g0166 a0016c0012t0003g0319 a0009c0010t0003g0166 a0016c0012t0003g0319	2	362	0.0055	48	c.982 others(65): Show c.9823-750_9823-749insATATATACTTATATAAGTATATATATAA GTATATATATACTTATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0025 a0025	a0025c0087 a0025c0087	a0025c0087t0002 a0025c0087t0002	a0025c0087t0002g0353 a0025c0087t0002g0353	1	362	0.0028	48	c.982 others(67): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATATATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(41): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02897.hp2 NA19000.hp1 HG01243.hp2 HG02897.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0023 a0001c0002t0074 a0001c0001t0049 a0001c0002t0023 a0001c0002t0074	a0001c0001t0049g0016 a0001c0002t0023g0280 a0001c0002t0074g0262 a0001c0001t0049g0016 a0001c0002t0023g0280 a0001c0002t0074g0262	3	288	0.0104	48	c.92 others(59): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	426	0.0024	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	426	0.0024	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	426	0.0024	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTATATA others(41): Show TGTATATATATATATACACATACGTGTATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0362 a0001c0001t0015g0362	1	376	0.0027	48	c.158 others(67): Show c.1582-3597_1582-3596insATATATATATATACACATACGTGTAT ATATACACACATACACATACGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884218	C C	CATACACA others(41): Show CATACACATACGTGTATATATACACATACACATACACATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG02055.hp1 others(18): Show HG00558.hp2 HG01109.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02818.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18980.hp1 NA19004.hp1 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0036 a0001c0001t0054 a0001c0001t0056	a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0109 others(18): Show a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0272 a0001c0001t0001g0291 a0001c0001t0001g0304 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0006g0325 a0001c0001t0012g0310 a0001c0001t0012g0374 a0001c0001t0027g0360 a0001c0001t0027g0365 a0001c0001t0036g0339 a0001c0001t0054g0225 a0001c0001t0056g0150	21	376	0.0559	48	c.158 others(67): Show c.1582-3528_1582-3527insCACATACGTGTATATATACACATACA CATACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884477	A A	ATATACAC others(41): Show ATATACACATGTGTGTACATATACATACATATACACATGTGTGTACATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0193 a0001c0003t0011g0193	1	376	0.0027	48	c.158 others(67): Show c.1582-3270_1582-3269insTACACATGTGTGTACATATACATACA TATACACATGTGTGTACATGTA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG02040.hp1 others(1): Show HG00673.hp1 HG00735.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0066 a0001c0001t0001 a0001c0001t0002 a0001c0001t0066	a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 a0001c0001t0066g0052	4	184	0.0217	48	c.711 others(69): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0167 a0002c0002t0004g0167	1	184	0.0054	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03453.hp1 HG03831.hp2 others(3): Show HG03239.hp2 HG03453.hp1 HG03831.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0002c0002t0005	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 a0001c0001t0009g0090 a0001c0001t0032g0150 a0002c0002t0005g0089	6	184	0.0326	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar

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