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
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	194	0.0052	46	c.-47 others(57): Show c.-4728_-4727insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGGTGAGA others(39): Show GGGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	20	0.0500	46	c.244 others(61): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCCTCC CCCGCCCCCTCTCACC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(39): Show GGTGAGAGGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02738.hp2 HG02027.hp1 HG02738.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0007c0014t0001 a0002c0002t0001 a0007c0014t0001	a0002c0002t0001g0066 a0007c0014t0001g0130 a0002c0002t0001g0066 a0007c0014t0001g0130	2	21	0.0952	46	c.244 others(61): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCCTCC CCCGCCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	184	0.0054	46	c.52 others(57): Show c.5213_*5214insTTTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar
SCD5_chr4_82624539_82803796	82626113	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02280.hp1 others(7): Show HG01167.hp2 HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0028 a0001c0001t0032 a0001c0002t0029	a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 others(7): Show a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0017g0006 a0001c0001t0028g0058 a0001c0001t0032g0194 a0001c0002t0029g0207	10	193	0.0518	46	c.52 others(57): Show c.5213_*5214insTTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTC TTTCTTTCTTTC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3425		chr4	TogoVar
SCFD2_chr4_52867982_53371061	53207475	A A	AACTCAAT others(39): Show AACTCAATATTAGAAACTGTTAATTAGTTATATCAGGAAAAAATCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02717.hp1 others(3): Show HG01243.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0123 a0001c0003t0003g0068 a0001c0003t0003g0069	6	162	0.0370	46	c.131 others(67): Show c.1312-61894_1312-61893insGTGATTTTTTCCTGATATAACTAA TTAACAGTTTCTAATATTGAGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53237857	G G	GCCCCTCA others(39): Show GCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	3	0.3333	46	c.131 others(67): Show c.1311+35968_1311+35969insGGTCAGCCCCCTGCCCGGCCAGCC GCCCCATCCAGGAGGTGAGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53237857	G G	GCCCCTCA others(39): Show GCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	3	0.3333	46	c.131 others(67): Show c.1311+35968_1311+35969insGGTCAGCCCCCCGCCCGGCCAGCC GCCCCATCCAGGAGGTGAGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53237857	G G	GCCCCTCA others(39): Show GCCCCTCACCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0127 a0001c0003t0005g0127	1	3	0.3333	46	c.131 others(67): Show c.1311+35968_1311+35969insGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCAGGAGGTGAGGGG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51683135	A A	ATCATATT others(39): Show ATCATATTGATGTTAATTTAAATAATGTAGGCTATGAGAATCTGAAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	400	0.0025	46	c.181 others(59): Show c.181+13_182-37dupCATATTGATGTTAATTTAAATAATGTAGGCTA TGAGAATCTGAACT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	83	0.0120	46	c.120 others(65): Show c.1207+3551_1207+3552insTATATATATATATATATATATATATA TATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03579.hp1 HG02132.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0366 a0001c0001t0001g0257 a0001c0001t0001g0366	2	373	0.0054	46	c.226 others(65): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTGTAT others(39): Show GTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0240 a0001c0001t0007g0240	1	372	0.0027	46	c.226 others(65): Show c.226+13382_226+13383insGTGTATATATATATATATATATATAT ATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG01952.hp2 others(10): Show HG01255.hp2 HG01346.hp1 HG01952.hp2 HG01993.hp1 HG03017.hp1 NA18944.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0194 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0194 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0002g0033	13	60	0.2167	46	c.226 others(65): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG01258.hp2 others(4): Show HG01081.hp1 HG01257.hp2 HG01258.hp2 NA18943.hp1 NA18955.hp2 NA19012.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0199 a0001c0001t0001g0327 a0001c0001t0005g0383	7	54	0.1296	46	c.226 others(65): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	48	0.0208	46	c.226 others(65): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATGTATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	191842	A A	ACCCTAAC others(39): Show ACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCCTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	4	353	0.0113	46	c.-12 others(57): Show c.-1258_-1257insCCCTAACCCCTAACCCCTAACCCTAACCCTAACC CTAACCCCTAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1235		chr11	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(39): Show GTGTATATATATATGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0168 a0002c0001t0001g0168	1	175	0.0057	46	c.186 others(65): Show c.1868-3535_1868-3534insTATATATATATATATATATATATATA CACACACATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	T T	TCACCTCC others(39): Show TCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG01943.hp2 others(8): Show HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 NA18906.hp2 NA19067.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0009t0008	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0320 others(8): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0352 a0001c0001t0002g0030 a0002c0002t0001g0021 a0004c0009t0008g0321	11	402	0.0274	46	c.416 others(63): Show c.416+5028_416+5073dupCGTAGGGTGGCAGGAGGGAGGTGCGTAG GGTGGCAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369319	A A	ACCTCCCT others(39): Show ACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	443	0.0023	46	c.416 others(63): Show c.416+5003_416+5048dupCGCGTAGGGTGGCAGGAGGGAGGTGCGT AGGGTGGCAGGAGGGAGG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(39): Show CCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(45): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp2 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19086.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0013 a0004c0017	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0004c0017t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0036 others(45): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0302 a0001c0002t0001g0023 a0001c0002t0001g0058 a0001c0002t0001g0144 a0001c0002t0001g0154 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0009t0001g0022 a0001c0012t0001g0195 a0001c0013t0001g0064 a0004c0017t0001g0063	48	138	0.3478	46	c.140 others(63): Show c.1404+218_1404+219insCCCTCCCTTCTCCCTTCCTTCCTCCCTC CCTTCTCCCTTCCTTCCT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(39): Show CCCTTCCTTCATTCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	91	0.0110	46	c.140 others(63): Show c.1404+195_1404+196insTCATTCCTTCTCCCTTCCTTCCTCCCTC CCTTCTCCCTTCCTTCCT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23379038	C C	CCCAGCCA others(39): Show CCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0076 a0006c0016t0001g0076	1	304	0.0033	46	c.146 others(63): Show c.1466+312_1466+313insCGCAGCCAGCCATCCTCCACTCATTCAT CCTCCATTCTCCCACCCA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23379121	A A	ACCCAGCC others(39): Show ACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACGCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	271	0.0037	46	c.146 others(63): Show c.1466+370_1466+371insCCATTCATCCCTCCATCATCCACCCACG CGCCCAGCCATCCTCCAC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43339732	C C	CCCACAAG others(39): Show CCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0206 a0002c0002t0047g0206	1	278	0.0036	46	c.89- others(59): Show c.89-498_89-497insAGGGTAGAATGAGGAGAGTGGGGGAGGGTTGG AGCTATGCTTGTGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(39): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG04184.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG04184.hp1 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0004c0007t0005 a0001c0001t0001 a0001c0001t0004 a0004c0007t0005	a0001c0001t0001g0239 a0001c0001t0004g0001 a0004c0007t0005g0212 a0001c0001t0001g0239 a0001c0001t0004g0001 a0004c0007t0005g0212	4	77	0.0519	46	c.61- others(63): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(39): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18970.hp1 NA19030.hp1 others(1): Show NA18955.hp2 NA18970.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0153 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0002g0117	4	6	0.6667	46	c.-19 others(57): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0010 a0001c0091t0010	a0001c0091t0010g0055 a0001c0091t0010g0055	1	88	0.0114	46	c.301 others(65): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTCTGTGTGTGT ATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0073 a0011c0021t0073	a0011c0021t0073g0007 a0011c0021t0073g0007	1	88	0.0114	46	c.301 others(65): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTGTGTGTATAT ATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0001 a0001c0111t0001	a0001c0111t0001g0203 a0001c0111t0001g0203	1	172	0.0058	46	c.559 others(65): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73388735	C C	CCCTTCCT others(39): Show CCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCCTCTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0046 a0001c0051t0046	a0001c0051t0046g0061 a0001c0051t0046g0061	1	139	0.0072	46	c.419 others(63): Show c.4193-744_4193-699dupAAGGAAGGAGAGGGAGGGAAGGAAGGAA GGAGGGAGGGAAGGAAGG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73388818	C C	CTCCTTCC others(39): Show CTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0019 a0009c0021t0019	a0009c0021t0019g0046 a0009c0021t0019g0046	1	122	0.0082	46	c.419 others(63): Show c.4193-782_4193-781insAGGAGAGGGAGGGAAGGAAGGAAGGAGG GAGGGAAGGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30455106	A A	AATATTTA others(39): Show AATATTTAATATTTAATATATATTATATTTAATATTTAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0008	1	442	0.0023	46	c.48 others(57): Show c.4869_*4914dupAATATATATTAAATATTAAATATAATATATATTA AATATTAAATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4122		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30455142	T T	TAATATAT others(39): Show TAATATATATTATATTTAATATTAAATATATATTATATTTAATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02723.hp2 others(9): Show HG01891.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0001 a0004c0004t0001 a0006c0006t0001	a0004c0004t0001g0008 a0004c0004t0001g0143 a0006c0006t0001g0058 others(1): Show a0004c0004t0001g0008 a0004c0004t0001g0143 a0006c0006t0001g0058 a0006c0006t0001g0059	12	441	0.0272	46	c.48 others(57): Show c.4878_*4879insTAATATTAAATATAATATATATTTAATATTAAAT ATAATATATATT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4086		chr22	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(39): Show TATATATACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	12	0.0833	46	c.116 others(65): Show c.1165+1199_1165+1200insTATATACACACACACACACACACACA CACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(39): Show ATATATATATATATGCGTATATATACGCGTATATATATATATACGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(82): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18982.hp1 NA18990.hp1 NA18991.hp2 NA18999.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp1 NA19065.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0010t0001g0156	85	299	0.2843	46	c.-5+ others(61): Show c.-5+2701_-5+2702insCGCGTATATATATATATACGCGTATATATA CGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(39): Show ATATATATATATATGCGTATATATACGCGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18985.hp2 NA19058.hp2 HG00423.hp1 NA18985.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	3	217	0.0138	46	c.-5+ others(61): Show c.-5+2701_-5+2702insCACGTATATATATATATACGCGTATATATA CGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG01071.hp2 others(4): Show HG00609.hp1 HG01070.hp1 HG01071.hp2 HG02622.hp1 HG02647.hp1 HG03209.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0007c0031	a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0002c0005t0001 a0007c0031t0020	a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0003t0002g0049 others(4): Show a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0003t0002g0049 a0002c0002t0002g0133 a0002c0005t0001g0156 a0002c0005t0001g0157 a0007c0031t0020g0169	7	249	0.0281	46	c.19 others(57): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMA6A_chr5_116438555_116579823	116524775	C C	CACACACA others(39): Show CACACACACACACAGACACACACACACACAGACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 NA18960.hp2 HG02074.hp2 HG02135.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0013 a0002c0002t0072 a0001c0001t0011 a0001c0001t0013 a0002c0002t0072	a0001c0001t0011g0252 a0001c0001t0013g0053 a0002c0002t0072g0270 a0001c0001t0011g0252 a0001c0001t0013g0053 a0002c0002t0072g0270	3	87	0.0345	46	c.-38 others(65): Show c.-38-19794_-38-19793insCTGTGTGTGTGTGTGTCTGTGTGTGT GTGTGTCTGTGTGTGTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMG2_chr20_45216373_45229458	45225496	A A	AAAGAAAG others(39): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	360	0.0028	46	c.12 others(57): Show c.1250_*1251insAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1039		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225548	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01167.hp2 others(3): Show HG00323.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG02300.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	6	335	0.0179	46	c.13 others(57): Show c.1302_*1303insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1091		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02622.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0109 a0001c0003t0007g0293 a0001c0001t0001g0109 a0001c0003t0007g0293	2	159	0.0126	46	c.553 others(63): Show c.553-3542_553-3541insGTGTGTGTATATATATATATATATATAT ATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18999.hp2 NA19084.hp1 NA18964.hp1 NA18999.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0233 a0001c0001t0006g0261 a0001c0001t0006g0193 a0001c0001t0006g0233 a0001c0001t0006g0261	3	160	0.0188	46	c.553 others(63): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	158	0.0063	46	c.553 others(63): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SEPTIN9_chr17_77276499_77505593	77485040	T T	TGATGGTG others(39): Show TGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0109 a0001c0001t0018g0117 a0001c0001t0018g0109 a0001c0001t0018g0117	2	148	0.0135	46	c.914 others(63): Show c.914-2377_914-2376insATTGTGATGGTGGTGATGGGGTGATGGT GGTGATGGGGCGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485040	T T	TGATGGTG others(39): Show TGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0014g0088 a0001c0001t0014g0089	2	156	0.0128	46	c.860 others(63): Show c.860-2377_860-2376insATTGTGATGGTGGTGATGGGGTGATGGT GGTGATGGGGCGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739389	A A	AGTGAGGG others(39): Show AGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	444	0.0023	46	c.-35 others(57): Show c.-3524_-3523insGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGA GGCGCAGGAGAC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3481		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1740861	A A	AGGCGCAG others(39): Show AGGCGCAGGGACAGTGAGGGTGGGAAGTGGCTGATGCAGGGAGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0005 a0005c0007t0001g0005	1	444	0.0023	46	c.-20 others(57): Show c.-2052_-2051insGGCGCAGGGACAGTGAGGGTGGGAAGTGGCTGAT GCAGGGAGTGAG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2009		chr17	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18972.hp1 HG01433.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0097 a0001c0001t0002g0070 a0001c0001t0002g0097	2	378	0.0053	46	c.-17 others(65): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	25	0.0400	46	c.676 others(63): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar

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