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
SRSF12_chr6_89090959_89123071	89093793	A A	AATGTAGA others(14): Show AATGTAGAACATGCAATGCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	374	0.0027	21	c.47 others(32): Show c.4784_*4785insATTGCATTGCATGTTCTACAT	SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding		2165		chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18977.hp1 HG01258.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0158 a0001c0001t0002g0023 a0001c0001t0002g0158	2	68	0.0294	21	c.-2- others(34): Show c.-2-177_-2-176insGGGGGGGGGGGGGGGGGGGGG	SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF6_chr20_43452896_43469243	43461334	G G	GTTTTTTT others(14): Show GTTTTTTTGTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	306	0.0033	21	c.27 others(30): Show c.273_*274insTTTTTGTTTTTTTTTTTTTTT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6	274	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA20300.hp2 HG01496.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	2	12	0.1667	21	c.21 others(32): Show c.2198_*2199insTTTTTTTTTTTTTTTTTTTTT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62183065	C C	CGGGAGCG others(14): Show CGGGAGCGGGGAGCGGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02818.hp1 others(4): Show HG02055.hp1 HG02723.hp2 HG02818.hp1 HG03130.hp2 HG03471.hp1 NA18906.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0017 a0002c0003t0005 a0002c0003t0017	a0002c0003t0005g0167 a0002c0003t0005g0171 a0002c0003t0005g0185 others(4): Show a0002c0003t0005g0167 a0002c0003t0005g0171 a0002c0003t0005g0185 a0002c0003t0005g0189 a0002c0003t0005g0195 a0002c0003t0005g0208 a0002c0003t0017g0186	7	275	0.0255	21	c.38 others(32): Show c.3857_*3858insGGGAGCGGGGAGCGGGGAGCG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding		552		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0169 a0001c0001t0016g0169	1	76	0.0132	21	c.283 others(40): Show c.283-29101_283-29100insGAGAGAGAGAGAGAGAGAGAG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54282041	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	170	0.0059	21	c.277 others(36): Show c.277-535_277-515dupATTATTATTATTATTATTATT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19067.hp2 HG01934.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0028 a0001c0001t0001g0112 a0001c0001t0002g0028	2	56	0.0357	21	c.277 others(40): Show c.277-17404_277-17403insGTGTGTGTGTGTGTGTGTGTG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	63	0.0159	21	c.277 others(40): Show c.277-55979_277-55959dupAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG02129.hp2 others(6): Show HG00438.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp2 HG02523.hp1 NA18967.hp2 NA18979.hp2 NA18983.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0028 a0001c0001t0042 a0001c0001t0047	a0001c0001t0005g0048 a0001c0001t0008g0241 a0001c0001t0008g0252 others(6): Show a0001c0001t0005g0048 a0001c0001t0008g0241 a0001c0001t0008g0252 a0001c0001t0008g0258 a0001c0001t0010g0268 a0001c0001t0019g0257 a0001c0001t0028g0269 a0001c0001t0042g0239 a0001c0001t0047g0265	9	84	0.1071	21	c.276 others(40): Show c.276+15157_276+15177dupAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02818.hp2 HG03041.hp1 others(1): Show HG01099.hp2 HG02818.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0128	4	12	0.3333	21	c.-9- others(34): Show c.-9-399_-9-398insAAAAAAAAAAAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0003 a0017 a0003 a0017	a0003c0007 a0017c0037 a0003c0007 a0017c0037	a0003c0007t0002 a0017c0037t0001 a0003c0007t0002 a0017c0037t0001	a0003c0007t0002g0128 a0017c0037t0001g0137 a0003c0007t0002g0128 a0017c0037t0001g0137	2	191	0.0105	21	c.138 others(38): Show c.1387+451_1387+452insATATATATATATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0001 a0001c0082t0001	a0001c0082t0001g0225 a0001c0082t0001g0225	1	190	0.0053	21	c.138 others(38): Show c.1387+451_1387+452insATATATTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108835936	T T	TATAACTA others(14): Show TATAACTATATTAATATAATCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	330	0.0030	21	c.111 others(40): Show c.111-12596_111-12576dupCGATTATATTAATATAGTTAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0005 a0001c0001t0154g0005	1	76	0.0132	21	c.15 others(32): Show c.1508_*1528dupAAAAAAAAAAAAAAAAAAAAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L1_chr11_4333245_4344345	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00673.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp1 HG02280.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0013	a0001c0001 a0001c0010 a0002c0003 others(3): Show a0001c0001 a0001c0010 a0002c0003 a0009c0021 a0012c0013 a0013c0015	a0001c0001t0002 a0001c0001t0006 a0001c0010t0002 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0010t0002 a0002c0003t0002 a0009c0021t0017 a0012c0013t0002 a0013c0015t0002	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0010t0002g0000 others(4): Show a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0010t0002g0000 a0002c0003t0002g0000 a0009c0021t0017g0000 a0012c0013t0002g0000 a0013c0015t0002g0000	77	340	0.2265	21	c.33 others(32): Show c.3306_*3307insACGGTCTCCCTCTCCCTCTCC	SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding		2891		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGAAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	261	0.0038	21	c.49 others(32): Show c.4904_*4905insGGAGAGGGAGAGGAAGACCGT	SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding		4490		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(74): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0008 others(1): Show a0001c0001 a0002c0002 a0006c0008 a0009c0010	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0006c0008t0002 a0009c0010t0009	a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0008g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0014g0000 a0006c0008t0002g0000 a0009c0010t0009g0000	77	337	0.2285	21	c.49 others(32): Show c.4904_*4905insGGAGAGGGAGAGGGAGACCGT	SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding		4490		chr11	TogoVar
SSU72L4_chr11_4282084_4293185	4282560	C C	CTCTCCCT others(14): Show CTCTCCCTCTCCCTCTCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18952.hp1 HG01515.hp1 HG01517.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	318	0.0094	21	c.49 others(32): Show c.4938_*4939insCCGTGGAGAGGGAGAGGGAGA	SSU72L4	ENSG00000283873.2	transcript	ENST00000638166.2	protein_coding		4523		chr11	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03492.hp2 HG03927.hp1 others(6): Show HG02129.hp2 HG03492.hp2 HG03927.hp1 HG04184.hp2 NA18948.hp2 NA18975.hp2 NA18984.hp2 NA19004.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	292	0.0308	21	c.20 others(32): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG04199.hp2 HG02897.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0140 a0001c0001t0006g0020 a0001c0001t0001g0140 a0001c0001t0006g0020	2	146	0.0137	21	c.58 others(32): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133535525	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0006 a0001c0001t0001 a0002c0005t0006	a0001c0001t0001g0052 a0002c0005t0006g0195 a0001c0001t0001g0052 a0002c0005t0006g0195	2	207	0.0097	21	c.-42 others(42): Show c.-429+10248_-429+10249insAAAAAAAAAAAAAAAAAAAAA	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL4_chr11_126350686_126419638	126371163	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	63	0.0159	21	c.-61 others(40): Show c.-61+15340_-61+15341insTTTTTTTTTTTTTTTTTTTTT	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	186984744	C C	CTTCCTCC others(14): Show CTTCCTCCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp1 NA18970.hp1 others(3): Show HG01891.hp2 HG03209.hp1 NA18970.hp1 NA19030.hp2 NA19066.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0008	a0001c0001t0002g0325 a0001c0001t0004g0014 a0001c0001t0004g0331 others(3): Show a0001c0001t0002g0325 a0001c0001t0004g0014 a0001c0001t0004g0331 a0001c0001t0004g0349 a0001c0001t0005g0156 a0001c0002t0008g0086	6	250	0.0240	21	c.-18 others(42): Show c.-183+20819_-183+20820insTCCTCCCTTCCTTCCTTCCTT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL2_chr2_106796600_106891167	106823442	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0030 a0001c0001t0018g0030	1	46	0.0217	21	c.131 others(40): Show c.1318+6623_1318+6624insGTGTGTGTGTGTGTGTGTGTG	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	5/5			chr2	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127900991	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	4	0.2500	21	c.-15 others(32): Show c.-1539_-1519dupTTTTTTTTTTTTTTTTTTTTT	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		1389		chr9	TogoVar
ST7L_chr1_112518514_112624141	112599073	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	242	0.0041	21	c.507 others(36): Show c.507-988_507-987insATATATATATATATTTTTTTT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	96	0.0104	21	c.152 others(38): Show c.152-1853_152-1852insATATATATATATATATATTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	96	0.0104	21	c.152 others(38): Show c.152-1853_152-1852insATATATTTTTTTTTTTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097909	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	165	0.0061	21	c.152 others(38): Show c.152-1853_152-1852insATATATATATATATATATATA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAAAAAA others(14): Show CAAAAAAAACAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18967.hp1 NA18993.hp1 others(2): Show HG01123.hp2 NA18967.hp1 NA18993.hp1 NA19076.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0014 a0001c0001t0068 others(2): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0068 a0001c0002t0013 a0001c0002t0055	a0001c0001t0010g0093 a0001c0001t0014g0018 a0001c0001t0068g0150 others(2): Show a0001c0001t0010g0093 a0001c0001t0014g0018 a0001c0001t0068g0150 a0001c0002t0013g0157 a0001c0002t0055g0169	5	129	0.0388	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTGTTTTTTTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4			chr12	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAACAAA others(14): Show CAAACAAAAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02559.hp2 others(4): Show HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02976.hp2 HG03098.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0153 a0001c0001t0159 a0001c0002t0039 others(2): Show a0001c0001t0153 a0001c0001t0159 a0001c0002t0039 a0001c0002t0040 a0001c0002t0141	a0001c0001t0153g0209 a0001c0001t0159g0057 a0001c0002t0039g0039 others(4): Show a0001c0001t0153g0209 a0001c0001t0159g0057 a0001c0002t0039g0039 a0001c0002t0039g0046 a0001c0002t0040g0049 a0001c0002t0040g0263 a0001c0002t0141g0048	7	131	0.0534	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTTTTTTGTTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4			chr12	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAACAAA others(14): Show CAAACAAACAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0188 a0001c0001t0168 a0001c0001t0188	a0001c0001t0168g0064 a0001c0001t0188g0069 a0001c0001t0168g0064 a0001c0001t0188g0069	2	126	0.0159	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTTGTTTGTTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4			chr12	TogoVar
ST8SIA2_chr15_92388881_92473728	92434585	C C	CGGTGGCA others(14): Show CGGTGGCAGGAACACCCGCTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(2): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0016 a0001c0004t0060 a0001c0005t0014 others(1): Show a0001c0002t0016 a0001c0004t0060 a0001c0005t0014 a0001c0005t0016	a0001c0002t0016g0011 a0001c0004t0060g0028 a0001c0005t0014g0229 others(1): Show a0001c0002t0016g0011 a0001c0004t0060g0028 a0001c0005t0014g0229 a0001c0005t0016g0228	5	370	0.0135	21	c.290 others(36): Show c.290+214_290+234dupGGCAGGAACACCCGCTGAGGT	ST8SIA2	ENSG00000140557.12	transcript	ENST00000268164.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ST8SIA5_chr18_46662821_46762053	46725972	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	199	0.0050	21	c.132 others(40): Show c.132-21309_132-21308insATATATATATATATATATATA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAC_chr3_36375504_36553007	36492025	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	301	0.0033	21	c.688 others(38): Show c.688-1126_688-1125insTATATATATATATATATATAT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10			chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	84	0.0119	21	c.688 others(38): Show c.688-1119_688-1118insAAAAAAAAAAATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18983.hp1 NA19010.hp1 HG02809.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0294 a0001c0001t0002g0137 a0001c0001t0006g0083 a0001c0001t0001g0294 a0001c0001t0002g0137 a0001c0001t0006g0083	3	86	0.0349	21	c.688 others(38): Show c.688-1119_688-1118insAAAAAAAAATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18983.hp2 HG01167.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0002g0154 a0001c0001t0001g0202 a0001c0001t0002g0154	2	85	0.0235	21	c.688 others(38): Show c.688-1119_688-1118insAAAAAAATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG02040.hp1 HG00621.hp2 HG01081.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0172 a0001c0001t0002g0214 a0001c0001t0004g0123 a0001c0001t0002g0172 a0001c0001t0002g0214 a0001c0001t0004g0123	3	86	0.0349	21	c.688 others(38): Show c.688-1119_688-1118insAAAAATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	84	0.0119	21	c.688 others(38): Show c.688-1120_688-1119insTATATATATATATATATATAT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10			chr3	TogoVar
STAG1_chr3_136331236_136757378	136354754	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	99	0.0101	21	c.306 others(40): Show c.3065+2965_3065+2966insTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	28/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	25	0.0400	21	c.227 others(40): Show c.2277+2208_2277+2228dupAAAAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	32	0.0313	21	c.471 others(38): Show c.471+1276_471+1296dupTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136613313	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	68	0.0147	21	c.133 others(38): Show c.133-8861_133-8841dupTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	3/33			chr3	TogoVar
STAG2_chrX_123956706_124107656	123983974	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG02280.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0270 a0001c0001t0001g0176 a0001c0001t0001g0270	2	98	0.0204	21	c.-16 others(42): Show c.-163+22119_-163+22139dupTTTTTTTTTTTTTTTTTTTTT	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02717.hp1 HG00280.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0158 a0001c0001t0005g0045 a0001c0001t0001g0158 a0001c0001t0005g0045	2	236	0.0085	21	c.-49 others(32): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding		4748		chr10	TogoVar
STAP2_chr19_4319043_4343827	4340027	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA18967.hp1 NA19068.hp2 others(1): Show HG02071.hp1 NA18967.hp1 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0012 a0001c0003t0001g0174 a0001c0003t0001g0184 others(1): Show a0001c0003t0001g0012 a0001c0003t0001g0174 a0001c0003t0001g0184 a0001c0003t0002g0053	4	147	0.0272	21	c.-12 others(32): Show c.-1275_-1274insAAAAAAAAAAAAAAAAAAAAA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1201		chr19	TogoVar
STARD10_chr11_72749729_72799047	72755306	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	199	0.0050	21	c.631 others(36): Show c.631-185_631-165dupAAAAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	6/6			chr11	TogoVar
STARD10_chr11_72749729_72799047	72761917	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	216	0.0046	21	c.208 others(38): Show c.208-2557_208-2537dupAAAAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	2/6			chr11	TogoVar

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