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
SERPINE1_chr7_101122104_101144247	101141206	A A	ATTGTGAG others(18): Show ATTGTGAGGACAAAAATGATGTAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	434	0.0023	25	c.37 others(36): Show c.3764_*3765insTTGTGAGGACAAAAATGATGTAGAC	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1960		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	252	0.0040	25	c.-22 others(42): Show c.-22-3144_-22-3143insTATATATATATATATATATATATAT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINF1_chr17_1757060_1782565	1779479	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00741.hp1 others(3): Show HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01516.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0015 a0001c0001t0001g0198 a0001c0001t0001g0213	6	113	0.0531	25	c.20 others(36): Show c.2033_*2034insAAAACAAAACAAAACAAAACAAAAC	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding		1915		chr17	TogoVar
SERTAD1_chr19_40416589_40430992	40418190	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0010 a0001c0003t0007g0010	1	197	0.0051	25	c.46 others(36): Show c.4645_*4646insGAAAAGAAAAGAAAAGAAAAGAAAA	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		3398		chr19	TogoVar
SESN1_chr6_108979309_109099846	109064589	A A	AGAGGGGA others(18): Show AGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	82	0.0122	25	c.279 others(44): Show c.279+29181_279+29205dupCCCTCCCCTCCCCTCCCCTCCCCTC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19083.hp2 NA19030.hp1 NA19083.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0024 a0005c0006t0001 a0001c0001t0024 a0005c0006t0001	a0001c0001t0024g0108 a0005c0006t0001g0007 a0001c0001t0024g0108 a0005c0006t0001g0007	2	79	0.0253	25	c.540 others(44): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45013434	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	130	0.0077	25	c.400 others(46): Show c.4001-25048_4001-25047insCTTTCTTTCTTTCTTTCTTTCTTT T	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01258.hp2 others(5): Show HG01243.hp1 HG01257.hp2 HG01258.hp2 HG02165.hp2 HG02896.hp2 HG02897.hp1 NA18981.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087	8	32	0.2500	25	c.676 others(42): Show c.676-9679_676-9655dupTTTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0200 a0003c0005t0011g0200	1	147	0.0068	25	c.152 others(42): Show c.1524+248_1524+249insTTTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TGGGGCGG others(18): Show TGGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0055 a0001c0001t0015g0055	1	242	0.0041	25	c.334 others(38): Show c.334+31_335-50dupGCGGGGCGGGGCGGGGCGGGGCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD6_chr16_58510517_58528842	58516148	G G	GCGGGGCG others(18): Show GCGGGGCGGGGCGGGGCGGGGCGGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02300.hp2 HG03704.hp1 others(1): Show HG01168.hp2 HG02300.hp2 HG03704.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0017 a0001c0003t0012g0017	4	294	0.0136	25	c.335 others(38): Show c.335-50_335-49insGCGGGGCGGGGCGGGGCGGTTCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD7_chr4_139501038_139561219	139544290	C C	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG01255.hp1 others(2): Show HG00438.hp1 HG01099.hp2 HG01255.hp1 HG01981.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0018 a0001c0006t0045 a0001c0001t0001 a0001c0006t0018 a0001c0006t0045	a0001c0001t0001g0019 a0001c0001t0001g0218 a0001c0006t0018g0066 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0218 a0001c0006t0018g0066 a0001c0006t0045g0265	5	148	0.0338	25	c.170 others(42): Show c.170+2605_170+2629dupTTTTATTTTATTTTATTTTATTTTA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	70	0.0143	25	c.240 others(42): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(18): Show AAGAAAGAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	70	0.0143	25	c.240 others(42): Show c.2407+734_2407+735insGAAAGAAGAAAGAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348767	A A	AGGGGAGG others(18): Show AGGGGAGGGAAGGAGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	190	0.0053	25	c.240 others(42): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01109.hp1 others(24): Show HG00323.hp1 HG00673.hp2 HG01109.hp1 HG01928.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03225.hp2 HG03239.hp2 NA18942.hp1 NA18942.hp2 NA18960.hp1 NA18960.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0003t0002 a0001c0003t0016 a0001c0010t0002 a0002c0002t0001 a0002c0002t0009 a0002c0005t0003	a0001c0001t0002g0013 a0001c0001t0002g0055 a0001c0001t0002g0076 others(24): Show a0001c0001t0002g0013 a0001c0001t0002g0055 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0069 a0001c0001t0003g0126 a0001c0001t0003g0166 a0001c0001t0005g0030 a0001c0001t0005g0056 a0001c0001t0005g0078 a0001c0001t0005g0145 a0001c0001t0005g0199 a0001c0001t0011g0167 a0001c0001t0024g0063 a0001c0003t0002g0064 a0001c0003t0016g0171 a0001c0010t0002g0032 a0002c0002t0001g0004 a0002c0002t0009g0192 a0002c0005t0003g0050 a0002c0005t0003g0137	27	111	0.2432	25	c.279 others(44): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37963380	C C	CAAATGCT others(18): Show CAAATGCTATGTGGTGAACCTAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	398	0.0025	25	c.137 others(44): Show c.1373-3230_1373-3206dupTTTTTAGGTTCACCACATAGCATTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19090.hp2 HG00423.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0042 a0001c0001t0012 a0001c0001t0042	a0001c0001t0012g0216 a0001c0001t0042g0215 a0001c0001t0012g0216 a0001c0001t0042g0215	2	3	0.6667	25	c.468 others(40): Show c.468+582_468+583insTTTTTTTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	13	0.1538	25	c.495 others(40): Show c.495+250_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(18): Show ATATATATATATATATATAATTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	77	0.0130	25	c.124 others(44): Show c.1249-1638_1249-1637insATATATATATATATATAATTTTTTT	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(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19057.hp1 HG02602.hp1 NA19057.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0022 a0002c0002 a0015c0022	a0002c0002t0001 a0015c0022t0001 a0002c0002t0001 a0015c0022t0001	a0002c0002t0001g0068 a0015c0022t0001g0025 a0002c0002t0001g0068 a0015c0022t0001g0025	2	78	0.0256	25	c.124 others(44): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0102 a0018c0014t0001g0102	1	282	0.0035	25	c.249 others(42): Show c.2490+552_2490+553insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18940.hp1 NA19070.hp2 HG03130.hp2 NA18940.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0100 a0002c0002t0001g0111 a0002c0002t0003g0066 a0002c0002t0001g0100 a0002c0002t0001g0111 a0002c0002t0003g0066	3	263	0.0114	25	c.249 others(42): Show c.2490+554_2490+555insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612396	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	233	0.0043	25	c.249 others(42): Show c.2490+556_2490+557insTATATATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612398	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0035 a0011c0021t0001g0035	1	128	0.0078	25	c.249 others(42): Show c.2490+559_2490+560insAAAAAAAAAAAAATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp2 HG03831.hp1 others(7): Show HG01358.hp1 HG02257.hp2 HG03831.hp1 HG03942.hp2 NA18612.hp1 NA18960.hp1 NA18979.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0289 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0289 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0004g0291 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0003t0001g0203	10	127	0.0787	25	c.124 others(42): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7257123	G G	GAGGGGAG others(18): Show GAGGGGAGGGGAGGGGAGGGGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG02148.hp1 HG01496.hp1 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0034g0142 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0034g0142	3	142	0.0211	25	c.871 others(42): Show c.871-8475_871-8474insTCTTTCCCCTCCCCTCCCCTCCCCT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	7/20			chr10	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	1	223	0.0045	25	c.-13 others(36): Show c.-1391_-1390insTATATATATATATATATATATATAT	SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding		1358		chr2	TogoVar
SFXN5_chr2_72937036_73076712	73039776	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	44	0.0227	25	c.249 others(42): Show c.249+1053_249+1077dupAAATAAAATAAAATAAAATAAAATA	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	3/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050421	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	239	0.0042	25	c.171 others(42): Show c.171+8106_171+8107insTGTGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156372926	C C	CCTAGACA others(18): Show CCTAGACATGTGTTTGCCTTTGTGTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01169.hp1 HG02559.hp2 others(5): Show HG01070.hp2 HG01169.hp1 HG02559.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0043	a0001c0001t0001g0058 a0001c0001t0003g0056 a0001c0001t0012g0059 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0056 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0013g0057 a0001c0001t0014g0055 a0001c0001t0029g0024 a0001c0001t0043g0139	8	148	0.0541	25	c.192 others(44): Show c.192+28249_192+28250insCTAGACATGTGTTTGCCTTTGTGTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156406018	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp1 HG03098.hp1 others(4): Show HG01978.hp2 HG02040.hp1 HG03098.hp1 HG03471.hp2 NA18953.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0001t0031 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0023 a0001c0002t0044	a0001c0001t0031g0021 a0001c0002t0002g0093 a0001c0002t0008g0006 others(4): Show a0001c0001t0031g0021 a0001c0002t0002g0093 a0001c0002t0008g0006 a0001c0002t0008g0076 a0001c0002t0010g0094 a0001c0002t0023g0112 a0001c0002t0044g0026	7	28	0.2500	25	c.192 others(44): Show c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23241381	A A	ATACATTT others(18): Show ATACATTTTCCATACATAAAAAATGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	352	0.0028	25	c.297 others(42): Show c.297+6669_297+6670insTACATTTTCCATACATAAAAAATGT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	3/7			chr13	TogoVar
SGCZ_chr8_14079845_15243431	14493359	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0013 a0001c0001t0031g0013	1	5	0.2000	25	c.234 others(44): Show c.234+61348_234+61372dupAAAAAAAAAAAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551448	A A	ATATATAT others(18): Show ATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0040 a0001c0001t0042g0040	1	102	0.0098	25	c.234 others(42): Show c.234+3259_234+3283dupATATATATAATATATATAATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14782681	T T	TTATTAAT others(18): Show TTATTAATAAAAATCTGCTAATAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0017 a0001c0001t0046g0017	1	102	0.0098	25	c.40- others(44): Show c.40-227756_40-227755insTATTATTAGCAGATTTTTATTAATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15172163	T T	TTATTTAT others(18): Show TTATTTATTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02886.hp1 others(4): Show HG01243.hp2 HG02109.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 others(4): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0039 a0001c0001t0091 a0002c0002t0004	a0001c0001t0014g0024 a0001c0001t0018g0037 a0001c0001t0020g0025 others(4): Show a0001c0001t0014g0024 a0001c0001t0018g0037 a0001c0001t0020g0025 a0001c0001t0022g0007 a0001c0001t0039g0036 a0001c0001t0091g0102 a0002c0002t0004g0027	7	102	0.0686	25	c.39+ others(42): Show c.39+65421_39+65422insTAAAATAAAATAAAATAAATAAATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66630909	A A	AGGGAGGG others(18): Show AGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	299	0.0033	25	c.75- others(40): Show c.75-2147_75-2146insGAGGGAGGGAGGGGAGGGAGGGAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660127	A A	AGAAAGAA others(18): Show AGAAAGAAAGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	299	0.0033	25	c.460 others(40): Show c.460-377_460-376insGAGGGAAGGAAGGAAGGAAAGAAAG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(18): Show GAAAAGAAAGAAAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp2 others(14): Show HG00140.hp1 HG00140.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG02615.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp1 HG03831.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0004	a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0085 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0229 a0001c0001t0003g0005 a0001c0002t0001g0108 a0001c0003t0001g0047 a0001c0006t0004g0224 a0001c0006t0004g0225	17	79	0.2152	25	c.286 others(44): Show c.286-24983_286-24982insTTCTCTCTCTCTCTTTCTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04199.hp1 HG03453.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0045 a0001c0002t0006g0057 a0001c0002t0002g0045 a0001c0002t0006g0057	2	64	0.0313	25	c.-12 others(46): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA A	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66771199	A A	ATAGCCTC others(18): Show ATAGCCTCTGGTACAACCCACTCTAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	140	0.0071	25	c.-12 others(46): Show c.-121-22416_-121-22392dupTAGCCTCTGGTACAACCCACTCTA T	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66826636	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG03453.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0006g0057 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0006g0057	3	128	0.0234	25	c.418 others(42): Show c.418-2014_418-1990dupATTTTATTTTATTTTATTTTATTTT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGO2_chr2_200521207_200589096	200588726	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	81	0.0123	25	c.52 others(36): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTTTTTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		4631		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG03490.hp2 others(4): Show HG00741.hp1 HG00741.hp2 HG03490.hp2 NA18968.hp2 NA18980.hp1 NA19074.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0008t0015	a0001c0001t0002g0082 a0001c0001t0002g0143 a0001c0001t0003g0054 others(4): Show a0001c0001t0002g0082 a0001c0001t0002g0143 a0001c0001t0003g0054 a0001c0001t0003g0138 a0001c0001t0005g0141 a0001c0001t0008g0142 a0002c0008t0015g0163	7	54	0.1296	25	c.-23 others(36): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2377498	A A	AACGAAAA others(18): Show AACGAAAAAAAAGAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18965.hp1 NA18981.hp1 others(1): Show HG01928.hp1 NA18965.hp1 NA18981.hp1 NA19064.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0002 a0002c0002t0004 a0007c0009t0002 a0001c0001t0002 a0002c0002t0004 a0007c0009t0002	a0001c0001t0002g0203 a0001c0001t0002g0385 a0002c0002t0004g0038 others(1): Show a0001c0001t0002g0203 a0001c0001t0002g0385 a0002c0002t0004g0038 a0007c0009t0002g0381	4	376	0.0106	25	c.280 others(42): Show c.2803-358_2803-357insCGAAAAAAAAGAAAAAAAAAAAACA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02129.hp2 others(3): Show HG01891.hp1 HG01891.hp2 HG02129.hp2 HG02735.hp2 HG03195.hp2 HG03831.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0006 a0001c0001 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0005c0006t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0314 others(3): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0314 a0001c0001t0002g0040 a0004c0004t0002g0115 a0005c0006t0001g0251	6	98	0.0612	25	c.-29 others(42): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1B_chr1_162390268_162417136	162401485	A A	AATATATA others(18): Show AATATATACACATATATTGTGCATGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	422	0.0024	25	c.198 others(42): Show c.198+1229_198+1253dupACATGCACAATATATGTGTATATAT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	2/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	25	c.-34 others(34): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80572986	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0317 a0004c0004t0002g0317	1	166	0.0060	25	c.495 others(42): Show c.495+1409_495+1410insATATATATATATATATATATTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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