Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SS18L1_chr20_62138769_62187514	62160350	A A	AGAGAGGT others(8): Show AGAGAGGTGGGATGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01255.hp2 others(6): Show HG00642.hp1 HG01192.hp1 HG01255.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0013 a0001c0002 a0001c0012 a0002c0013	a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0012t0004 a0002c0013t0009	a0001c0002t0001g0282 a0001c0002t0004g0033 a0001c0002t0004g0261 others(6): Show a0001c0002t0001g0282 a0001c0002t0004g0033 a0001c0002t0004g0261 a0001c0002t0004g0275 a0001c0002t0010g0260 a0001c0002t0010g0262 a0001c0002t0010g0273 a0001c0012t0004g0281 a0002c0013t0009g0034	9	297	0.0303	15	c.231 others(30): Show c.231+400_231+414dupATGGGGAGAGGTGGG	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	76	0.0132	15	c.283 others(34): Show c.283-29101_283-29100insGAGAGAGAGAGAGAG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG03654.hp1 HG00738.hp2 HG01258.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0104 a0001c0001t0007g0177 a0001c0001t0007g0207 a0001c0001t0001g0104 a0001c0001t0007g0177 a0001c0001t0007g0207	3	128	0.0234	15	c.927 others(32): Show c.927+3666_927+3680dupAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0233 a0001c0001t0009g0233	1	61	0.0164	15	c.366 others(32): Show c.366+4815_366+4829dupTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54282041	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG03669.hp2 others(6): Show HG01433.hp1 HG02630.hp1 HG03669.hp2 HG03834.hp1 NA18979.hp1 NA18981.hp1 NA18999.hp1 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0032 a0001c0001t0039	a0001c0001t0002g0119 a0001c0001t0002g0155 a0001c0001t0009g0202 others(6): Show a0001c0001t0002g0119 a0001c0001t0002g0155 a0001c0001t0009g0202 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0016g0097 a0001c0001t0027g0247 a0001c0001t0032g0101 a0001c0001t0039g0232	9	178	0.0506	15	c.277 others(30): Show c.277-529_277-515dupATTATTATTATTATT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	55	0.0182	15	c.277 others(34): Show c.277-17404_277-17403insGTGTGTGTGTGTGTG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02630.hp1 HG02129.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0155 a0001c0001t0028g0269 a0001c0001t0002g0155 a0001c0001t0028g0269	2	64	0.0313	15	c.277 others(34): Show c.277-55973_277-55959dupAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	76	0.0132	15	c.276 others(34): Show c.276+15163_276+15177dupAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02109.hp2 HG02451.hp1 others(12): Show HG00558.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18979.hp1 NA19010.hp2 NA19063.hp2 NA19070.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0001c0002t0013	a0001c0001t0001g0114 a0001c0001t0002g0094 a0001c0001t0002g0130 others(12): Show a0001c0001t0001g0114 a0001c0001t0002g0094 a0001c0001t0002g0130 a0001c0001t0004g0045 a0001c0001t0004g0082 a0001c0001t0004g0115 a0001c0001t0004g0131 a0001c0001t0004g0139 a0001c0001t0006g0166 a0001c0001t0007g0222 a0001c0001t0009g0196 a0001c0001t0010g0267 a0001c0001t0012g0011 a0001c0001t0022g0279 a0001c0002t0013g0044	15	111	0.1351	15	c.276 others(32): Show c.276+5653_276+5667dupTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54406036	T T	TCGCCGCC others(8): Show TCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0263 a0001c0001t0044g0263	1	154	0.0065	15	c.-43 others(22): Show c.-43_-29dupGCGGCGGCGGCGGCG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	1/18	29		chr1	TogoVar
SSB_chr2_169793871_169817064	169814468	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(43): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00733.hp2 HG01074.hp1 HG01516.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02135.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18941.hp2 NA18943.hp1 NA18956.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19059.hp2 NA19060.hp1 NA19064.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0002g0012 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0145 a0001c0002t0001g0010	46	71	0.6479	15	c.27 others(26): Show c.2712_*2713insAAAAAAAAAAAAAAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		2405		chr2	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18971.hp1 HG02896.hp1 NA18971.hp1	a0003 a0005 a0003 a0005	a0003c0016 a0005c0077 a0003c0016 a0005c0077	a0003c0016t0002 a0005c0077t0001 a0003c0016t0002 a0005c0077t0001	a0003c0016t0002g0227 a0005c0077t0001g0151 a0003c0016t0002g0227 a0005c0077t0001g0151	2	343	0.0058	15	c.138 others(32): Show c.1387+451_1387+452insATATATATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH1_chr12_108773191_108862583	108849905	C C	CTGGGGGA others(8): Show CTGGGGGAGGGGAACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0288	1	330	0.0030	15	c.110 others(32): Show c.110+2718_110+2732dupTGTTCCCCTCCCCCA	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108859881	A A	AGGAGGGG others(8): Show AGGAGGGGAGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA18954.hp1 HG03209.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0144 a0001c0001t0029g0015 a0001c0001t0002g0144 a0001c0001t0029g0015	2	313	0.0064	15	c.-24 others(26): Show c.-2400_-2386dupCCTCCTCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2299		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859906	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0004 a0005c0021t0004	a0005c0021t0004g0166 a0005c0021t0004g0166	1	322	0.0031	15	c.-24 others(26): Show c.-2411_-2410insCCTCCCCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2324		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859911	G G	GGGAGGGG others(8): Show GGGAGGGGAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(23): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02630.hp2 HG03041.hp1 HG03942.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19005.hp1 NA19055.hp1 NA19066.hp1 NA19081.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0018 a0009c0014 a0001c0001 a0007c0018 a0009c0014	a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0023 a0001c0001t0057 a0001c0001t0058 a0001c0001t0091 a0001c0001t0092 a0007c0018t0004 a0009c0014t0004	a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0168 others(20): Show a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0214 a0001c0001t0007g0011 a0001c0001t0013g0171 a0001c0001t0013g0177 a0001c0001t0023g0167 a0001c0001t0023g0185 a0001c0001t0057g0190 a0001c0001t0058g0178 a0001c0001t0091g0109 a0001c0001t0092g0189 a0007c0018t0004g0164 a0009c0014t0004g0163	26	329	0.0790	15	c.-24 others(26): Show c.-2416_-2415insTCTCCCCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2329		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859946	A A	AGGAGGGG others(8): Show AGGAGGGGAGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp1 NA18522.hp1 HG01243.hp1 HG02257.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0243 a0001c0001t0010g0244 a0001c0001t0010g0028 a0001c0001t0010g0243 a0001c0001t0010g0244	3	297	0.0101	15	c.-24 others(26): Show c.-2465_-2451dupCCTCCTCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2364		chr12	TogoVar
SSH1_chr12_108773191_108862583	108859986	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02818.hp2 others(1): Show HG02109.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0008 a0001c0001t0007g0011 a0001c0001t0007g0036 a0001c0001t0006g0008 a0001c0001t0007g0011 a0001c0001t0007g0036	4	227	0.0176	15	c.-25 others(26): Show c.-2505_-2491dupCCTCCCCTCCCCTCC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2404		chr12	TogoVar
SSH2_chr17_29620938_29935228	29841892	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	100	0.0100	15	c.144 others(32): Show c.144+6942_144+6956dupAAAAAAAAAAAAAAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	2/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAATT others(8): Show AAAAAATTATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04199.hp2 HG02135.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0001g0015 a0001c0001t0001g0069	2	86	0.0233	15	c.63+ others(32): Show c.63+16590_63+16591insATATATATAATTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAATTAT others(8): Show AAAATTATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	85	0.0118	15	c.63+ others(32): Show c.63+16590_63+16591insATATATATATAATTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSMEM1_chr7_130202860_130221844	130214934	A A	AAAGCTGA others(8): Show AAAGCTGATTTTAAGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	364	0.0027	15	c.239 others(32): Show c.239-1039_239-1025dupAAGCTGATTTTAAGC	SSMEM1	ENSG00000165120.5	transcript	ENST00000297819.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSPN_chr12_26190573_26239777	26201046	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0015 a0001c0001t0016g0015	1	211	0.0047	15	c.279 others(32): Show c.279+5095_279+5096insATATATATATATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2			chr12	TogoVar
SSR1_chr6_7276143_7318199	7315587	G G	GCTCCACC others(8): Show GCTCCACCTGCAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	432	0.0023	15	c.-24 others(26): Show c.-2482_-2468dupGGGCTGCAGGTGGAG	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding		2389		chr6	TogoVar
SSR3_chr3_156534553_156560117	156558718	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0027 a0001c0003t0007g0027	1	356	0.0028	15	c.-36 others(26): Show c.-3630_-3629insGTTTTGTTTTGTTTT	SSR3	ENSG00000114850.7	transcript	ENST00000265044.7	protein_coding		3602		chr3	TogoVar
SSTR4_chr20_23030312_23044237	23041182	C C	CATTTTAC others(8): Show CATTTTACATTTTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	436	0.0023	15	c.45 others(26): Show c.4532_*4533insATTTTACATTTTACA	SSTR4	ENSG00000132671.6	transcript	ENST00000255008.5	protein_coding		1946		chr20	TogoVar
SSU72L1_chr11_4333245_4344345	4335380	G G	GGGAGAGG others(8): Show GGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00735.hp1 others(42): Show HG00140.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02293.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 NA18942.hp2 NA18957.hp2 NA18959.hp2 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19006.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0018 a0008c0019 a0001c0001 a0001c0018 a0008c0019	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0018t0004 a0008c0019t0004	a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 others(2): Show a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 a0001c0018t0004g0000 a0008c0019t0004g0000	45	340	0.1324	15	c.32 others(26): Show c.3279_*3280insACGGTCTCCCTCTCC	SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding		2864		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335380	G G	GGGAGAGG others(8): Show GGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00735.hp2 others(42): Show HG00140.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02155.hp1 HG02523.hp1 HG02615.hp1 HG02698.hp2 HG02970.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 NA18942.hp2 NA18955.hp2 NA18957.hp1 NA18993.hp2 NA18995.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0013 a0001c0001t0001 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0013g0000 a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0013g0000	45	338	0.1331	15	c.49 others(26): Show c.4931_*4932insGGAGAGGGAGACCGT	SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding		4517		chr11	TogoVar
SSX2B_chrX_52746252_52766536	52758395	C C	CAGGTGTA others(8): Show CAGGTGTACTTCAGAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	55	0.0182	15	c.466 others(30): Show c.466+408_466+422dupGGTGTACTTCAGAGA	SSX2B	ENSG00000268447.6	transcript	ENST00000596480.6	protein_coding	6/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SSX4B_chrX_48397082_48416960	48413935	A A	AGAAGGGA others(8): Show AGAAGGGAAGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG02683.hp2 others(4): Show HG00099.hp1 HG00733.hp1 HG02683.hp2 HG03540.hp1 HG03688.hp1 NA18940.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0081	7	131	0.0534	15	c.-20 others(26): Show c.-2095_-2094insCCTTCCCTTCCCTTC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		1976		chrX	TogoVar
SSX4B_chrX_48397082_48416960	48414274	G G	GGAAAGAA others(8): Show GGAAAGAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	49	0.0204	15	c.-24 others(26): Show c.-2434_-2433insTTTCTTTCTTCTTTC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		2315		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381145	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	102	0.0098	15	c.-24 others(26): Show c.-2440_-2439insTTCTTTCTTTCTTTC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2393		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381448	C C	CCCTTCTC others(8): Show CCCTTCTCCTTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG03130.hp1 NA18945.hp1 others(2): Show HG00673.hp1 HG03130.hp1 NA18945.hp1 NA18953.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0049	5	65	0.0769	15	c.-21 others(26): Show c.-2137_-2136insCCTTCTCCTTTCCCT	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2090		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381452	T T	TTTCCCTT others(8): Show TTTCCCTTCCCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG03492.hp1 HG04228.hp1 HG02897.hp1 HG03492.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0001g0008 a0001c0001t0002g0004	3	51	0.0588	15	c.-21 others(26): Show c.-2133_-2132insTTCCCTTCCCTTCCC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2086		chrX	TogoVar
SSX5_chrX_48181220_48201795	48198559	G G	GGAAGGAA others(8): Show GGAAGGAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	133	0.0075	15	c.-18 others(26): Show c.-1850_-1849insTTTCTTTCTTCCTTC	SSX5	ENSG00000165583.16	transcript	ENST00000347757.6	protein_coding		1765		chrX	TogoVar
SSX5_chrX_48181220_48201795	48198559	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	133	0.0075	15	c.-18 others(26): Show c.-1850_-1849insTTTCTTCCTTCCTTC	SSX5	ENSG00000165583.16	transcript	ENST00000347757.6	protein_coding		1765		chrX	TogoVar
ST14_chr11_130154782_130215362	130164718	C C	CTTATTAT others(8): Show CTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 NA19240.hp2 HG02109.hp2 HG02647.hp2 NA19240.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0027 a0008c0034 a0001c0001 a0004c0027 a0008c0034	a0001c0001t0001 a0004c0027t0002 a0008c0034t0001 a0001c0001t0001 a0004c0027t0002 a0008c0034t0001	a0001c0001t0001g0233 a0004c0027t0002g0251 a0008c0034t0001g0200 a0001c0001t0001g0233 a0004c0027t0002g0251 a0008c0034t0001g0200	3	147	0.0204	15	c.81+ others(30): Show c.81+4679_81+4693dupATTATTATTATTATT	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST18_chr8_52105838_52414756	52218872	T T	TGGTGGGA others(8): Show TGGTGGGAGGAAGATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp1 HG06807.hp1 others(2): Show HG00558.hp2 HG02083.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0014 a0001c0001t0005g0062 a0001c0001t0006g0052 others(2): Show a0001c0001t0002g0014 a0001c0001t0005g0062 a0001c0001t0006g0052 a0001c0002t0002g0011 a0001c0002t0002g0017	5	102	0.0490	15	c.-15 others(32): Show c.-156-986_-156-972dupGATCTTCCTCCCACC	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	5/25			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70429588	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG03579.hp1 HG02572.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0010 a0001c0004t0026 a0001c0001t0007 a0001c0001t0010 a0001c0004t0026	a0001c0001t0007g0287 a0001c0001t0010g0284 a0001c0004t0026g0285 a0001c0001t0007g0287 a0001c0001t0010g0284 a0001c0004t0026g0285	3	237	0.0127	15	c.-10 others(36): Show c.-1004+9346_-1004+9360dupTTTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70431985	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0305 a0001c0001t0098g0305	1	273	0.0037	15	c.-10 others(36): Show c.-1004+6963_-1004+6964insAAAAAAATATATATA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70435794	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02109.hp1 others(5): Show HG00423.hp2 HG00558.hp2 HG02109.hp1 HG02486.hp1 HG02717.hp1 HG03540.hp2 NA18948.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 others(4): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0086 a0001c0001t0101	a0001c0001t0004g0011 a0001c0001t0016g0010 a0001c0001t0017g0009 others(5): Show a0001c0001t0004g0011 a0001c0001t0016g0010 a0001c0001t0017g0009 a0001c0001t0036g0311 a0001c0001t0036g0312 a0001c0001t0037g0309 a0001c0001t0086g0012 a0001c0001t0101g0310	8	220	0.0364	15	c.-10 others(36): Show c.-1004+3140_-1004+3154dupATTTTATTTTATTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43838114	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02055.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0134 a0001c0001t0001g0064 a0001c0001t0001g0134	2	34	0.0588	15	c.210 others(29): Show c.210-103_210-89dupAAAAAAAAAAAAAAA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126371163	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01168.hp1 others(11): Show HG00280.hp2 HG01106.hp1 HG01168.hp1 HG01257.hp2 HG01496.hp2 HG02258.hp2 HG02486.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0067 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0186 a0001c0002t0001g0022 a0001c0002t0001g0099 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124	14	76	0.1842	15	c.-61 others(34): Show c.-61+15326_-61+15340dupTTTTTTTTTTTTTTT	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	187029088	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01099.hp1 others(9): Show HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG02896.hp2 HG03486.hp2 HG03927.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0051 a0001c0003t0019 a0001c0006t0047 a0001c0006t0072	a0001c0001t0001g0232 a0001c0001t0003g0135 a0001c0001t0004g0055 others(9): Show a0001c0001t0001g0232 a0001c0001t0003g0135 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0322 a0001c0001t0005g0157 a0001c0001t0051g0172 a0001c0003t0019g0117 a0001c0006t0047g0033 a0001c0006t0072g0328	12	63	0.1905	15	c.-18 others(34): Show c.-182-9643_-182-9642insAAAAAAAAAAAAAAA	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL1_chr3_186925526_187083553	187048880	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 NA20129.hp2 HG02818.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0025 a0001c0001t0018 a0001c0003t0025	a0001c0001t0018g0127 a0001c0001t0018g0140 a0001c0003t0025g0016 a0001c0001t0018g0127 a0001c0001t0018g0140 a0001c0003t0025g0016	3	53	0.0566	15	c.608 others(32): Show c.608-2355_608-2341dupTTTTTTTTTTTTTTT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76563753	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03579.hp1 HG01255.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0005 a0001c0001t0005 a0001c0008t0005	a0001c0001t0005g0207 a0001c0008t0005g0209 a0001c0001t0005g0207 a0001c0008t0005g0209	2	179	0.0112	15	c.23 others(26): Show c.2336_*2350dupATAAAATAAAATAAA	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding		1623		chr17	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76583375	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0145 a0001c0001t0017g0145	1	104	0.0096	15	c.125 others(32): Show c.125+2308_125+2309insTTTTTTTTTTTTTTT	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding	1/8			chr17	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76278223	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 NA19060.hp1 HG03098.hp1 HG03225.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0020 a0002c0002t0014 a0001c0001t0002 a0001c0001t0020 a0002c0002t0014	a0001c0001t0002g0047 a0001c0001t0020g0097 a0002c0002t0014g0084 a0001c0001t0002g0047 a0001c0001t0020g0097 a0002c0002t0014g0084	3	58	0.0517	15	c.19- others(32): Show c.19-35581_19-35567dupTTTTTTTTTTTTTTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76341605	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	46	0.0217	15	c.213 others(34): Show c.213+27608_213+27609insCTTTCTTTCTTTCTT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070775	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA20129.hp2 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0113 a0001c0001t0013g0167 a0001c0001t0004g0113 a0001c0001t0013g0167	2	197	0.0102	15	c.75 others(26): Show c.7569_*7570insATATATATATATATA	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3230		chr1	TogoVar

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