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
SERAC1_chr6_158104519_158173262	158169564	A A	AATATACA others(35): Show AATATACAGTATATTATATATGATATATTGTATATTACATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	355	0.0028	42	c.-14 others(53): Show c.-1427_-1426insCATATGTAATATACAATATATCATATATAATATA CTGTATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1303		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTGTATAT others(35): Show TTGTATATTATATAATATATTGTATATTATATATTGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18971.hp1 NA19056.hp2 HG02155.hp1 NA18971.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0002 a0001c0001t0001g0107	3	237	0.0127	42	c.-16 others(53): Show c.-1608_-1607insTAATATACAATATATAATATACAATATATTATAT AATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATATTA others(35): Show ATATATTATATATAATATATTGTATATTATATATTATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG02109.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0175 a0001c0001t0001g0176	2	345	0.0058	42	c.-16 others(53): Show c.-1629_-1628insCAATATATAATATATAATATACAATATATTATAT ATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169772	A A	AATATATT others(35): Show AATATATTGTATATTATATATAATATATTGTATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	207	0.0048	42	c.-16 others(53): Show c.-1635_-1634insAATATATAATATACAATATATTATATATAATATA CAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1511		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169772	A A	AATATATT others(35): Show AATATATTGTATATTATATATTATATATTGTATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	207	0.0048	42	c.-16 others(53): Show c.-1676_-1635dupAATATATAATATACAATATATAATATATAATATA CAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1511		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0221 a0001c0001t0034g0221	1	95	0.0105	42	c.92 others(53): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTTT TTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(35): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	210	0.0048	42	c.196 others(59): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA CACACACACACAAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	223	0.0045	42	c.304 others(57): Show c.304-519_304-518insTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20752.hp1 HG03486.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0133 a0001c0001t0016g0083 a0001c0001t0005g0133 a0001c0001t0016g0083	2	378	0.0053	42	c.-17 others(61): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SEZ6_chr17_28949905_29011033	28952999	G G	GACAAGTC others(35): Show GACAAGTCATTACAAGTACGACAGAGTGACAAGGATACTTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	298	0.0034	42	c.29 others(53): Show c.2962_*2963insGACAAGTATCCTTGTCACTCTGTCGTACTTGTAA TGACTTGT	SEZ6	ENSG00000063015.21	transcript	ENST00000317338.17	protein_coding		1905		chr17	TogoVar
SF3B2_chr11_66047364_66074308	66072837	A A	ATTTTTTT others(35): Show ATTTTTTTTAAATTTTTTAAATATTATTTCTCTTTTTTATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	392	0.0026	42	c.40 others(53): Show c.4092_*4093insTTTTTTTTAAATTTTTTAAATATTATTTCTCTTT TTTATTAT	SF3B2	ENSG00000087365.16	transcript	ENST00000322535.11	protein_coding		3530		chr11	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	98	0.0102	42	c.571 others(57): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0006 a0010c0010t0001g0007 a0010c0010t0001g0006 a0010c0010t0001g0007	2	157	0.0127	42	c.765 others(59): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFRP1_chr8_41256962_41314473	41303084	G G	GAAAATAA others(35): Show GAAAATAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAACCGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	382	0.0026	42	c.622 others(57): Show c.622+376_622+377insTCGGTTTTTTTTTTTTTTTTTTTATTTTTT TTTTTTTATTTT	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	33	0.0303	42	c.240 others(61): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783821	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	312	0.0032	42	c.240 others(61): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATAAA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73047251	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	228	0.0044	42	c.172 others(59): Show c.172-6321_172-6320insGTGTGTATATATATATATATATATATAT ATATATATATATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01981.hp2 NA18964.hp1 HG01516.hp1 HG01981.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0023 a0001c0002t0002 a0001c0002t0008 a0001c0002t0023	a0001c0002t0002g0098 a0001c0002t0008g0115 a0001c0002t0023g0071 a0001c0002t0002g0098 a0001c0002t0008g0115 a0001c0002t0023g0071	3	75	0.0400	42	c.192 others(59): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156640433	T T	TAAATAAA others(35): Show TAAATAAATATTGTAAATATTGTAAATTTTAAAAAAATTTAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01169.hp2 others(6): Show HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01256.hp2 HG01516.hp1 HG02129.hp2 HG03239.hp2 NA19066.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0002t0005 a0001c0002t0008 a0001c0002t0051	a0001c0001t0001g0015 a0001c0001t0003g0125 a0001c0001t0030g0135 others(6): Show a0001c0001t0001g0015 a0001c0001t0003g0125 a0001c0001t0030g0135 a0001c0001t0034g0118 a0001c0001t0035g0127 a0001c0001t0040g0131 a0001c0002t0005g0097 a0001c0002t0008g0115 a0001c0002t0051g0099	9	148	0.0608	42	c.503 others(59): Show c.503-7031_503-7030insAAATAAATATTGTAAATATTGTAAATTT TAAAAAAATTTAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	6/8			chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0218 a0001c0004t0002g0218	1	107	0.0093	42	c.386 others(59): Show c.386-4216_386-4215insTATATATATATATATATATATATATATA TATATATATATATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(35): Show TTATATATATATATATATATTTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02886.hp1 others(3): Show HG02109.hp2 HG02622.hp2 HG02886.hp1 HG03139.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0038 a0001c0001t0054 others(3): Show a0001c0001t0014 a0001c0001t0038 a0001c0001t0054 a0001c0001t0062 a0001c0001t0075 a0001c0001t0088	a0001c0001t0014g0024 a0001c0001t0038g0023 a0001c0001t0054g0058 others(3): Show a0001c0001t0014g0024 a0001c0001t0038g0023 a0001c0001t0054g0058 a0001c0001t0062g0082 a0001c0001t0075g0044 a0001c0001t0088g0054	6	81	0.0741	42	c.40- others(59): Show c.40-90553_40-90552insTAAATATATATATATATATATAAATATA TATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66630813	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0249 a0002c0002t0007g0249	1	300	0.0033	42	c.75- others(57): Show c.75-2230_75-2229insGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630817	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0150 a0002c0003t0003g0150	1	300	0.0033	42	c.75- others(57): Show c.75-2222_75-2221insGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660011	A A	AAGAAGAA others(35): Show AAGAAGAAAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0040 a0001c0001t0038g0040	1	216	0.0046	42	c.460 others(57): Show c.460-502_460-501insAGAAGAAAGAAAGACAGGAAGGAAGGAAGG AAGGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(35): Show GTATATATATATATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18965.hp1 NA19058.hp1 others(3): Show HG03942.hp1 NA18965.hp1 NA19058.hp1 NA19062.hp1 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0015 a0001c0001t0003g0215 a0001c0001t0003g0217 others(3): Show a0001c0001t0003g0015 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0246 a0001c0001t0005g0203 a0001c0001t0005g0210	6	27	0.2222	42	c.-58 others(63): Show c.-589+15189_-589+15190insTATATATATATATATATATATATA CACATATATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200578150	C C	CTATAGAT others(35): Show CTATAGATATAGATATAGATATAGATATAGATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp1 NA18963.hp1 others(3): Show HG00423.hp2 NA18747.hp1 NA18963.hp1 NA18975.hp1 NA18983.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0001c0001t0001 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0002t0001g0270 others(3): Show a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0002t0001g0270 a0001c0002t0001g0283 a0001c0002t0001g0289 a0001c0011t0001g0238	6	82	0.0732	42	c.378 others(61): Show c.3782+2723_3782+2724insGATATAGATATAGATATAGATATAGA TATAGATATAGATATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(13): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG01516.hp1 HG02074.hp1 HG02080.hp1 HG02717.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18955.hp2 NA18965.hp1 NA18975.hp1 NA18999.hp2 NA19079.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0023c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0002c0002t0003 a0023c0033t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(13): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0003g0200 a0001c0003t0001g0190 a0001c0003t0001g0383 a0001c0003t0002g0202 a0002c0002t0003g0197 a0023c0033t0001g0198	16	181	0.0884	42	c.57+ others(57): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416448	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	362	0.0028	42	c.-44 others(53): Show c.-4433_-4432insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4313		chr1	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282344	A A	ACCGGGAC others(35): Show ACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	389	0.0026	42	c.12 others(53): Show c.1221_*1222insCCGGGACCGGGACTGGGGCCGGGACCGGGACCGG GACTGGGG	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		823		chr1	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282358	T T	TGGGGCCG others(35): Show TGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	42	c.12 others(53): Show c.1235_*1236insGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGA CCGGGACC	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		837		chr1	TogoVar
SH3BP4_chr2_234947017_235060714	235010769	G G	GAACCCTT others(35): Show GAACCCTTCTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(79): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0022 a0002c0001 a0002c0016 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0009 a0001c0006t0001 a0001c0022t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0012 a0002c0016t0002 a0003c0007t0001	a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0080 others(79): Show a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0311 a0001c0002t0001g0320 a0001c0002t0002g0193 a0001c0002t0002g0228 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0003g0075 a0001c0002t0003g0240 a0001c0002t0003g0300 a0001c0002t0004g0307 a0001c0003t0001g0054 a0001c0003t0001g0063 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0125 a0001c0003t0001g0139 a0001c0003t0001g0157 a0001c0003t0001g0172 a0001c0003t0001g0239 a0001c0003t0001g0244 a0001c0003t0001g0310 a0001c0003t0002g0164 a0001c0003t0002g0190 a0001c0003t0002g0205 a0001c0003t0004g0138 a0001c0004t0009g0082 a0001c0006t0001g0107 a0001c0006t0001g0204 a0001c0022t0002g0295 a0002c0001t0001g0047 a0002c0001t0001g0117 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0227 a0002c0001t0001g0233 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0309 a0002c0001t0001g0327 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0002g0062 a0002c0001t0002g0081 a0002c0001t0002g0097 a0002c0001t0002g0171 a0002c0001t0002g0180 a0002c0001t0002g0188 a0002c0001t0002g0194 a0002c0001t0002g0209 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0274 a0002c0001t0002g0292 a0002c0001t0002g0303 a0002c0001t0002g0308 a0002c0001t0002g0328 a0002c0001t0004g0156 a0002c0001t0007g0314 a0002c0001t0012g0242 a0002c0016t0002g0051 a0003c0007t0001g0154 a0003c0007t0001g0181	82	286	0.2867	42	c.-13 others(63): Show c.-133+15393_-133+15394insAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCC	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5			chr2	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0070 a0001c0001t0029g0075 a0001c0001t0029g0070 a0001c0001t0029g0075	2	19	0.1053	42	c.73- others(55): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA19062.hp1 HG01071.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0071 a0001c0001t0021g0027 a0001c0001t0002g0071 a0001c0001t0021g0027	2	51	0.0392	42	c.214 others(61): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(35): Show CTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCCTCCCT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	183	0.0055	42	c.248 others(59): Show c.248-1238_248-1237insCTCCCTTCTCCCTCCCTCTCCACCCGCC CCCGCACCGTTTTC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211447	G G	GCCCCCGC others(35): Show GCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCTCCACCCGC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0350 a0002c0003t0002g0350	1	370	0.0027	42	c.248 others(59): Show c.248-1218_248-1217insACCCGCCCCCCGCACCGTTTTCTCCCTT CTCCCTCCCTCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0193 a0001c0003t0004g0193	1	267	0.0037	42	c.196 others(61): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 NA19240.hp2 HG02109.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0087 a0001c0001t0001g0183 a0001c0001t0005g0024 a0001c0001t0001g0087 a0001c0001t0001g0183 a0001c0001t0005g0024	3	194	0.0155	42	c.657 others(61): Show c.657-17030_657-17029insTATATATACACACACACACACACATA TATATATACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATATATATATATGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	192	0.0052	42	c.657 others(61): Show c.657-17030_657-17029insTATATACACACACACACACATATATA TATATACACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02630.hp2 NA18975.hp2 others(3): Show HG02165.hp2 HG02630.hp2 NA18975.hp2 NA18980.hp1 NA19000.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0002t0008 others(1): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0008 a0001c0002t0019	a0001c0001t0008g0069 a0001c0001t0008g0228 a0001c0002t0001g0252 others(3): Show a0001c0001t0008g0069 a0001c0001t0008g0228 a0001c0002t0001g0252 a0001c0002t0001g0358 a0001c0002t0008g0106 a0001c0002t0019g0334	6	110	0.0545	42	c.600 others(61): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	61	0.0164	42	c.-58 others(51): Show c.-589_-548dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106624	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	377	0.0027	42	c.-60 others(51): Show c.-601_-600insTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		205		chr3	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0253 a0003c0003t0004g0253	1	360	0.0028	42	c.168 others(57): Show c.168+815_168+816insCTTCCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01168.hp2 others(2): Show HG00099.hp1 HG00642.hp2 HG01168.hp2 HG02683.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0353 a0001c0001t0003g0349 a0001c0001t0003g0350 others(2): Show a0001c0001t0001g0353 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0009g0351 a0002c0002t0002g0352	5	364	0.0137	42	c.168 others(57): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	97	0.0103	42	c.118 others(63): Show c.1182-14722_1182-14721insAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9823155	T T	TCTCCTTC others(35): Show TCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCTTCTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	112	0.0089	42	c.165 others(61): Show c.165+36447_165+36448insCCTTCTCCCTTCTCCTTCTCCCTTCT CCTTCTCCTTCTTCCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(35): Show AATAAATAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0018 a0003c0002t0018	a0003c0002t0018g0216 a0003c0002t0018g0216	1	31	0.0323	42	c.324 others(61): Show c.324-63928_324-63927insAATAAATATATATATATATATATATA TATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(35): Show AATAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03490.hp1 HG03225.hp2 HG03490.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0012 a0001c0001 a0013c0012	a0001c0001t0008 a0013c0012t0006 a0001c0001t0008 a0013c0012t0006	a0001c0001t0008g0198 a0013c0012t0006g0046 a0001c0001t0008g0198 a0013c0012t0006g0046	2	32	0.0625	42	c.324 others(61): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18962.hp1 NA19009.hp2 HG02273.hp1 NA18962.hp1 NA19009.hp2	a0003 a0016 a0003 a0016	a0003c0002 a0003c0028 a0016c0032 a0003c0002 a0003c0028 a0016c0032	a0003c0002t0001 a0003c0028t0003 a0016c0032t0008 a0003c0002t0001 a0003c0028t0003 a0016c0032t0008	a0003c0002t0001g0010 a0003c0028t0003g0202 a0016c0032t0008g0207 a0003c0002t0001g0010 a0003c0028t0003g0202 a0016c0032t0008g0207	3	31	0.0968	42	c.324 others(61): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	410865	C C	CGGGGGTG others(35): Show CGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0191 a0001c0004t0001g0191	1	234	0.0043	42	c.-15 others(59): Show c.-153-839_-153-838insCTCCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(35): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(15): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG01256.hp2 HG02071.hp1 HG02486.hp1 HG04204.hp2 HG04228.hp2 NA18970.hp1 NA18978.hp2 NA19009.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0005c0012t0001 a0001c0001t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0154 a0005c0012t0001g0153	18	145	0.1241	42	c.-15 others(61): Show c.-153-1244_-153-1243insCCCCGACTGCATTCAGACATGGTCAG AGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar

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