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
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0206 a0001c0004t0003g0206	1	228	0.0044	27	c.101 others(44): Show c.1014-786_1014-785insTTAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432183	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGACAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	362	0.0028	27	c.101 others(44): Show c.1014-773_1014-772insGGTGGACAGGGTGGAGAGGGTGGTTAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432192	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	368	0.0027	27	c.101 others(44): Show c.1014-773_1014-772insGGTGGTTAGGGTGGAGAGGGTGGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC5_chr5_80133727_80261048	80139594	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG03453.hp1 HG01167.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0022 a0001c0001t0035	a0001c0001t0022g0261 a0001c0001t0035g0060 a0001c0001t0022g0261 a0001c0001t0035g0060	2	283	0.0071	27	c.40 others(38): Show c.4068_*4069insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	12/12	4068		chr5	TogoVar
SERPINB12_chr18_63537369_63574329	63559039	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	400	0.0025	27	c.304 others(42): Show c.304-519_304-518insTTCTTTCTTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101138430	T T	TCGCGCCC others(20): Show TCGCGCCCCCCGCGCCCCCCGCGCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG03209.hp2 NA19240.hp2 HG02109.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0143 a0001c0001t0010g0149 a0001c0001t0010g0038 a0001c0001t0010g0143 a0001c0001t0010g0149	3	33	0.0909	27	c.10 others(38): Show c.1005_*1006insCCGCGCCCCCCGCGCCCCCCGCGCCCC	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	9/9	1006	INFO_REALIGN_3_PRIME	chr7	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0011 a0003c0003t0018g0011	1	78	0.0128	27	c.540 others(46): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp2 HG02145.hp2 others(1): Show HG01496.hp2 HG02056.hp2 HG02145.hp2 NA19006.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0006 a0004c0009t0001 a0001c0001t0001 a0001c0001t0006 a0004c0009t0001	a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0006g0084 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0006g0084 a0004c0009t0001g0047	4	28	0.1429	27	c.676 others(44): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9425055	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0233 a0001c0001t0007g0233	1	118	0.0085	27	c.-11 others(44): Show c.-117+552_-117+553insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0202 a0003c0005t0009g0202	1	147	0.0068	27	c.152 others(44): Show c.1524+248_1524+249insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0227 a0001c0002t0019g0227	1	350	0.0029	27	c.-39 others(38): Show c.-3973_-3972insATATATATATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26211804	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0005 a0001c0008t0002g0005	1	86	0.0116	27	c.94+ others(44): Show c.94+42066_94+42067insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 NA18982.hp2 HG02622.hp2 HG02723.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 a0001c0003 a0002c0002 a0002c0005	a0001c0003t0004 a0002c0002t0009 a0002c0005t0005 a0001c0003t0004 a0002c0002t0009 a0002c0005t0005	a0001c0003t0004g0196 a0002c0002t0009g0098 a0002c0005t0005g0205 a0001c0003t0004g0196 a0002c0002t0009g0098 a0002c0005t0005g0205	3	87	0.0345	27	c.279 others(46): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 NA18970.hp2 HG01123.hp1 HG02280.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0079 a0001c0002t0002g0141 a0001c0002t0008g0140 a0001c0001t0001g0079 a0001c0002t0002g0141 a0001c0002t0008g0140	3	14	0.2143	27	c.495 others(42): Show c.495+248_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	77	0.0130	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATATATATTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	77	0.0130	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATATATTTTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	77	0.0130	27	c.124 others(46): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTTTTT T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31593986	A A	AGGCAGGG others(20): Show AGGCAGGGGCAGGGGCAGGGGCAGGGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0158 a0006c0013t0001g0158	1	311	0.0032	27	c.154 others(46): Show c.1544+4409_1544+4410insGGCAGGGGCAGGGGCAGGGGCAGGGG C	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31594010	G G	GGCAGGGG others(20): Show GGCAGGGGCAGAGGCAGGGGCAGAGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02683.hp2 HG03688.hp1 HG00738.hp2 HG02683.hp2 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317 a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0317	3	313	0.0096	27	c.154 others(46): Show c.1544+4433_1544+4434insGCAGGGGCAGAGGCAGGGGCAGAGGG C	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01993.hp2 others(3): Show HG00558.hp2 HG00597.hp2 HG01993.hp2 HG04228.hp1 NA18955.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0263 a0001c0001t0002g0010 a0001c0001t0002g0032 others(3): Show a0001c0001t0001g0263 a0001c0001t0002g0010 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0004g0319 a0001c0003t0001g0189	6	123	0.0488	27	c.124 others(44): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	51	0.0196	27	c.-13 others(46): Show c.-131+4821_-131+4847dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131796020	G G	GGGGGAGG others(20): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	293	0.0034	27	c.253 others(46): Show c.2535-1137_2535-1136insGGGAGAGGGGAGGGGAGGGGAGGGGA G	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73050421	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18906.hp1 NA18945.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022	a0001c0002t0001g0083 a0001c0002t0002g0038 a0001c0002t0022g0062 a0001c0002t0001g0083 a0001c0002t0002g0038 a0001c0002t0022g0062	3	241	0.0124	27	c.171 others(44): Show c.171+8106_171+8107insTGTGTGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	81	0.0123	27	c.547 others(46): Show c.547+17689_547+17690insATTATTATTATTATTTTTTTTTTTTT T	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02622.hp2 HG02055.hp2 HG02486.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0075 a0001c0001t0078 a0001c0001t0042 a0001c0001t0075 a0001c0001t0078	a0001c0001t0042g0040 a0001c0001t0075g0044 a0001c0001t0078g0093 a0001c0001t0042g0040 a0001c0001t0075g0044 a0001c0001t0078g0093	3	7	0.4286	27	c.234 others(46): Show c.234+61346_234+61372dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551445	C C	CATATATA others(20): Show CATATATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01243.hp1 others(7): Show HG00642.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp2 HG02895.hp2 HG02897.hp2 NA18612.hp1 NA18959.hp1 NA19000.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0001t0046 a0001c0001t0067 a0001c0001t0069 a0001c0001t0080	a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0008g0060 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0011g0042 a0001c0001t0031g0013 a0001c0001t0046g0017 a0001c0001t0067g0068 a0001c0001t0069g0096 a0001c0001t0080g0089	10	102	0.0980	27	c.234 others(44): Show c.234+3260_234+3286dupTATATATAATATATATAATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551551	A A	AATATATA others(20): Show AATATATATATTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	82	0.0122	27	c.234 others(44): Show c.234+3180_234+3181insAATATATATTATATATAATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14847164	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0057 a0001c0001t0083g0057	1	102	0.0098	27	c.40- others(46): Show c.40-292239_40-292238insCTCTTCTTCTTCTTCTTCTTCTTCTT C	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(20): Show GAAGGAAGGAAGGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01192.hp1 others(8): Show HG00140.hp1 HG00438.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG02257.hp2 HG03098.hp1 HG03654.hp2 NA18906.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0013t0004	a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0110 others(8): Show a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0201 a0001c0001t0002g0298 a0001c0001t0007g0207 a0001c0001t0009g0105 a0001c0001t0009g0106 a0001c0001t0019g0093 a0001c0001t0019g0094 a0001c0013t0004g0099	11	239	0.0460	27	c.460 others(42): Show c.460-468_460-467insGGAAGGAAGGAAAGAAAAAGAAAGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66736400	A A	ATATTATA others(20): Show ATATTATATGTGAATATAATATATTGCG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18969.hp2 NA19085.hp2 NA18949.hp1 NA18969.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0053 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0053	3	296	0.0101	27	c.203 others(46): Show c.2032-2708_2032-2682dupGAATATAATATATTGCGTATTATATG T	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134220058	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG02735.hp2 HG01258.hp1 HG01981.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0001t0001 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0210 a0001c0001t0011g0054 a0001c0002t0002g0157 a0001c0001t0001g0210 a0001c0001t0011g0054 a0001c0002t0002g0157	3	34	0.0882	27	c.286 others(46): Show c.286-12654_286-12628dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232411	A A	AAGAAAAG others(20): Show AAGAAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 HG02622.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0002g0237 a0001c0001t0001g0156 a0001c0001t0002g0237	2	230	0.0087	27	c.286 others(46): Show c.286-24981_286-24980insCTCTCTCTCTCTCTTTCTTTCTTTTC T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(20): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp1 others(3): Show HG01243.hp2 HG02258.hp2 HG02630.hp1 HG02922.hp1 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0011 a0001c0001 a0001c0007 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0007t0001 a0003c0011t0001	a0001c0001t0001g0090 a0001c0001t0001g0158 a0001c0001t0004g0097 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0158 a0001c0001t0004g0097 a0001c0001t0008g0170 a0001c0007t0001g0153 a0003c0011t0001g0209	6	68	0.0882	27	c.286 others(46): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTTTCTTTCTTT T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01978.hp2 others(2): Show HG00741.hp2 HG01192.hp1 HG01978.hp2 HG02293.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(2): Show a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0140	5	67	0.0746	27	c.-12 others(48): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01168.hp1 others(11): Show HG00639.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01975.hp2 HG01981.hp2 HG02148.hp1 NA18940.hp2 NA18966.hp2 NA18993.hp1 NA19063.hp1 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0143 a0001c0002t0001g0062 a0001c0002t0001g0090 others(11): Show a0001c0001t0001g0143 a0001c0002t0001g0062 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0299 a0001c0002t0001g0310 a0001c0002t0002g0154 a0001c0003t0001g0065 a0001c0004t0001g0057	14	130	0.1077	27	c.-23 others(48): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTAATATA others(20): Show GTAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	251	0.0040	27	c.-58 others(48): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TTA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp2 HG00735.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0121 a0001c0001t0004g0122	2	191	0.0105	27	c.574 others(42): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01123.hp1 others(25): Show HG00639.hp1 HG01071.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01952.hp1 HG02132.hp1 HG02523.hp1 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp1 NA18957.hp1 NA18971.hp2 NA18979.hp2 NA18986.hp2 NA19000.hp2 NA19060.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0008 others(1): Show a0001c0001 a0001c0004 a0002c0008 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0025 a0001c0001t0034 a0001c0001t0048 a0001c0004t0020 a0002c0008t0003 a0003c0012t0002	a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0107 others(25): Show a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0003g0057 a0001c0001t0003g0090 a0001c0001t0003g0132 a0001c0001t0003g0162 a0001c0001t0004g0046 a0001c0001t0004g0052 a0001c0001t0005g0031 a0001c0001t0005g0058 a0001c0001t0007g0109 a0001c0001t0007g0112 a0001c0001t0008g0077 a0001c0001t0008g0114 a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0017g0056 a0001c0001t0017g0167 a0001c0001t0025g0091 a0001c0001t0034g0084 a0001c0001t0048g0101 a0001c0004t0020g0010 a0002c0008t0003g0100 a0003c0012t0002g0168	28	75	0.3733	27	c.-23 others(38): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01167.hp1 others(5): Show HG01069.hp2 HG01074.hp2 HG01167.hp1 HG02074.hp1 HG02622.hp1 HG02897.hp2 HG03139.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0332 a0001c0001t0001g0367 a0001c0001t0001g0368 others(5): Show a0001c0001t0001g0332 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0002g0118 a0001c0001t0004g0259 a0001c0001t0004g0260	8	100	0.0800	27	c.-29 others(44): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B2_chr7_102281868_102326711	102303229	A A	AAAATCCG others(20): Show AAAATCCGATCTAATGATACCTGCCACC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	404	0.0025	27	c.729 others(44): Show c.729+1951_729+1977dupAAATCCGATCTAATGATACCTGCCACC	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0026 a0001c0001t0001g0004 a0001c0001t0004g0026	2	63	0.0317	27	c.-34 others(36): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA18956.hp2 NA19009.hp2 HG03710.hp1 NA18956.hp2 NA19009.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0065 a0002c0002t0001g0004 a0005c0006t0001g0001 a0001c0001t0001g0065 a0002c0002t0001g0004 a0005c0006t0001g0001	3	256	0.0117	27	c.-30 others(38): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BP4_chr2_234947017_235060714	234951942	G G	GCGCCCCC others(20): Show GCGCCCCCGCCCCCGCCCCCCGCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02280.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0021 a0001c0002t0003 a0002c0001t0021	a0001c0002t0003g0012 a0002c0001t0021g0011 a0001c0002t0003g0012 a0002c0001t0021g0011	2	100	0.0200	27	c.-43 others(36): Show c.-435_-434insCGCCCCCGCCCCCGCCCCCCGCGCCCC	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding		74		chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(20): Show AAAAAAAAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03540.hp2 NA18962.hp2 others(1): Show HG00408.hp2 HG03540.hp2 NA18962.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0100 a0001c0002t0003g0236 a0001c0002t0003g0240 others(1): Show a0001c0002t0003g0100 a0001c0002t0003g0236 a0001c0002t0003g0240 a0001c0002t0004g0286	4	68	0.0588	27	c.118 others(44): Show c.118+1622_118+1623insAAAAAAAAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(20): Show AAAAAAAAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0278 a0001c0003t0001g0278	1	65	0.0154	27	c.118 others(44): Show c.118+1622_118+1623insAAAAAATAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAATA others(20): Show AAAAAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG03098.hp2 others(2): Show HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0025 a0005c0009 a0001c0002 a0001c0025 a0005c0009	a0001c0002t0001 a0001c0025t0001 a0005c0009t0001 a0001c0002t0001 a0001c0025t0001 a0005c0009t0001	a0001c0002t0001g0030 a0001c0025t0001g0129 a0005c0009t0001g0131 others(2): Show a0001c0002t0001g0030 a0001c0025t0001g0129 a0005c0009t0001g0131 a0005c0009t0001g0284 a0005c0009t0001g0285	5	69	0.0725	27	c.118 others(44): Show c.118+1622_118+1623insAAATAATAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03139.hp1 HG03579.hp2 HG00099.hp1 HG03139.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0004 a0003c0010t0001 a0003c0010t0006 a0001c0002t0004 a0003c0010t0001 a0003c0010t0006	a0001c0002t0004g0087 a0003c0010t0001g0128 a0003c0010t0006g0118 a0001c0002t0004g0087 a0003c0010t0001g0128 a0003c0010t0006g0118	3	67	0.0448	27	c.118 others(44): Show c.118+1638_118+1639insAATAATAATAATAATAATAATAATAAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3D21_chr1_36301368_36326347	36313967	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	370	0.0027	27	c.769 others(44): Show c.769+4381_769+4382insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01257.hp1 others(7): Show HG00099.hp1 HG01070.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01934.hp2 HG01978.hp1 HG04115.hp2 NA18978.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0151 a0001c0002t0001g0037 a0001c0002t0001g0043 others(5): Show a0001c0001t0001g0151 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0204	10	41	0.2439	27	c.769 others(44): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4390044	C C	CTGTCCCC others(20): Show CTGTCCCCAGGTGTGACATTGCCCCCGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	356	0.0028	27	c.45+ others(44): Show c.45+10279_45+10280insCCGGGGGCAATGTCACACCTGGGGACA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	1/9			chr19	TogoVar

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