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
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01099.hp2 others(8): Show HG00642.hp2 HG01081.hp2 HG01099.hp2 HG02683.hp1 HG02683.hp2 HG03453.hp2 HG03516.hp2 HG03927.hp1 NA19054.hp1 NA19087.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0024 a0003c0005 a0003c0008	a0001c0001t0001 a0001c0003t0001 a0001c0007t0003 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0003 a0001c0009t0001 a0001c0024t0003 a0003c0005t0001 a0003c0008t0003	a0001c0001t0001g0111 a0001c0003t0001g0132 a0001c0003t0001g0239 others(8): Show a0001c0001t0001g0111 a0001c0003t0001g0132 a0001c0003t0001g0239 a0001c0007t0003g0325 a0001c0009t0001g0058 a0001c0024t0003g0057 a0001c0024t0003g0062 a0003c0005t0001g0156 a0003c0005t0001g0175 a0003c0005t0001g0180 a0003c0008t0003g0128	11	318	0.0346	13	c.111 others(32): Show c.1113+5419_1113+5431dupTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4461361	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0156 a0003c0005t0001g0156	1	101	0.0099	13	c.111 others(32): Show c.1113+8170_1113+8182dupTTTTTTTTTTTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4477970	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp1 HG03471.hp1 others(1): Show HG01433.hp2 HG02055.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0003 a0001c0003t0001 a0001c0007t0003	a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0318 others(1): Show a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0318 a0001c0007t0003g0241	4	80	0.0500	13	c.111 others(30): Show c.1114-595_1114-583dupTTTTTTTTTTTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19000.hp1 HG02615.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0141 a0001c0001t0010g0002 a0001c0001t0002g0141 a0001c0001t0010g0002	2	64	0.0313	13	c.347 others(30): Show c.347+8590_347+8591insATTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0117 a0001c0001t0017g0126 a0001c0001t0002g0117 a0001c0001t0017g0126	2	64	0.0313	13	c.347 others(30): Show c.347+8590_347+8591insATATTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0006 a0001c0001t0022g0006	1	63	0.0159	13	c.347 others(30): Show c.347+8590_347+8591insATATATTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK2_chr10_72054034_72093551	72054625	C C	CCATAGGT others(6): Show CCATAGGTCAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG04204.hp2 HG03927.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	370	0.0054	13	c.81 others(24): Show c.8134_*8135insCTTCTGACCTATG	SPOCK2	ENSG00000107742.14	transcript	ENST00000373109.7	protein_coding		4408		chr10	TogoVar
SPOCK3_chr4_166728384_167239494	166878472	A A	AATGTATA others(6): Show AATGTATATTTTAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02165.hp1 others(2): Show HG02071.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 a0003c0006t0001	a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0002g0125 others(2): Show a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0002g0125 a0002c0003t0003g0043 a0003c0006t0001g0073	5	140	0.0357	13	c.589 others(32): Show c.589+10645_589+10657dupATAAAATATACAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166878509	T T	TATATGTA others(6): Show TATATGTATATTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01361.hp2 HG00741.hp1 HG01109.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0111	3	142	0.0211	13	c.589 others(32): Show c.589+10620_589+10621insGAAATATACATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167028406	A A	ACAACAAC others(6): Show ACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0015 a0001c0001t0001g0045	2	94	0.0213	13	c.236 others(32): Show c.236-27944_236-27943insGTTGTTGTTGTTG	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14057838	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0088 a0001c0004t0001g0087 a0001c0003t0001g0088 a0001c0004t0001g0087	2	202	0.0099	13	c.479 others(32): Show c.479+16189_479+16190insAAAAAAACAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057838	A A	AAAAAAAA others(6): Show AAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01192.hp2 others(14): Show HG00735.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01516.hp2 HG02055.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02897.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0160 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0160 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0003g0208 a0001c0002t0003g0221 a0001c0003t0001g0176 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0107 a0001c0009t0001g0170	17	217	0.0783	13	c.479 others(32): Show c.479+16189_479+16190insAACAAAACAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14090823	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp2 HG02280.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0223 a0001c0001t0014g0019 a0001c0001t0004g0223 a0001c0001t0014g0019	2	110	0.0182	13	c.676 others(32): Show c.676+10802_676+10803insCCCCCCCCCCCCC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14090824	G G	GCCACCCC others(6): Show GCCACCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	119	0.0084	13	c.676 others(32): Show c.676+10805_676+10806insACCCCCCCCCCCC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160825	T T	TATATATA others(6): Show TATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0218 a0001c0001t0020g0218	1	160	0.0063	13	c.825 others(32): Show c.825+25257_825+25258insATATATATATTTA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14272693	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	216	0.0046	13	c.70 others(24): Show c.7006_*7007insAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4561		chr11	TogoVar
SPON2_chr4_1161932_1177583	1172884	C C	CCCTCCCC others(6): Show CCCTCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	107	0.0093	13	c.-35 others(22): Show c.-357_-345dupAGGGGAGGGGAGG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		302		chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATTT others(6): Show ATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0189 a0001c0001t0062g0189	1	202	0.0050	13	c.44 others(24): Show c.4443_*4444insAAAAAAAAATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50731927	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 NA19030.hp2 HG01891.hp2 HG02615.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0044 a0001c0001t0093 a0001c0001t0025 a0001c0001t0044 a0001c0001t0093	a0001c0001t0025g0161 a0001c0001t0044g0158 a0001c0001t0093g0051 a0001c0001t0025g0161 a0001c0001t0044g0158 a0001c0001t0093g0051	3	136	0.0221	13	c.101 others(30): Show c.1014+663_1014+675dupTTTTTTTTTTTTT	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	9/14			chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50757089	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0042 a0001c0001t0030 a0001c0001t0042	a0001c0001t0030g0245 a0001c0001t0030g0246 a0001c0001t0042g0187 a0001c0001t0030g0245 a0001c0001t0030g0246 a0001c0001t0042g0187	3	156	0.0192	13	c.67- others(28): Show c.67-7344_67-7343insAAAAAAAAAAAAA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	1/14			chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2341041	G G	GCGGGCAG others(6): Show GCGGGCAGCGGAGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0001 a0010c0036t0001	a0010c0036t0001g0142 a0010c0036t0001g0142	1	412	0.0024	13	c.956 others(26): Show c.956+29_956+41dupGGGCAGCGGAGTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120789824	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18984.hp1 NA19000.hp2 others(3): Show HG00673.hp2 NA18984.hp1 NA19000.hp2 NA19001.hp2 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0028g0063	6	118	0.0508	13	c.190 others(30): Show c.190+1632_190+1644dupTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	3/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18747.hp2 NA18979.hp2 others(1): Show HG03834.hp1 NA18747.hp2 NA18979.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0145 a0001c0001t0010g0006	4	96	0.0417	13	c.23+ others(30): Show c.23+32702_23+32714dupTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38266643	A A	AAAACAAA others(6): Show AAAACAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	80	0.0125	13	c.32+ others(30): Show c.32+13433_32+13434insAAAAACAAACAAA	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38293099	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG03139.hp1 others(8): Show HG02055.hp2 HG02280.hp1 HG03139.hp1 NA18612.hp2 NA18906.hp1 NA18960.hp2 NA18966.hp1 NA18980.hp2 NA18989.hp2 NA18994.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0038	a0001c0001t0001g0301 a0001c0001t0002g0011 a0001c0001t0002g0254 others(7): Show a0001c0001t0001g0301 a0001c0001t0002g0011 a0001c0001t0002g0254 a0001c0001t0002g0266 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0016g0357 a0001c0001t0016g0358 a0001c0001t0016g0359 a0001c0001t0038g0363	11	31	0.3548	13	c.33- others(28): Show c.33-6267_33-6255dupTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38357906	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03710.hp2 HG00735.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0138 a0001c0001t0004g0347 a0001c0001t0001g0138 a0001c0001t0004g0347	2	126	0.0159	13	c.62 others(24): Show c.6242_*6243insCCCCCCCCCCCCC	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		658		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38360847	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG03041.hp2 others(2): Show HG02717.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0003 a0001c0002t0014 others(1): Show a0001c0001t0010 a0001c0002t0003 a0001c0002t0014 a0001c0002t0019	a0001c0001t0010g0215 a0001c0001t0010g0216 a0001c0002t0003g0025 others(2): Show a0001c0001t0010g0215 a0001c0001t0010g0216 a0001c0002t0003g0025 a0001c0002t0014g0064 a0001c0002t0019g0175	5	25	0.2000	13	c.91 others(24): Show c.9183_*9184insTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		3599		chr15	TogoVar
SPRED2_chr2_65305851_65437599	65422077	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	209	0.0048	13	c.26+ others(28): Show c.26+9884_26+9885insGTGTGTGTGTGTG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38385398	T T	TCCTGGGC others(6): Show TCCTGGGCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	358	0.0028	13	c.-34 others(24): Show c.-3414_-3413insCCTGGGCACCCTC	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		3298		chr19	TogoVar
SPRN_chr10_133415666_133429625	133421900	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01175.hp1 others(18): Show HG00280.hp2 HG00438.hp2 HG01175.hp1 HG01346.hp2 HG01517.hp2 HG01981.hp2 HG02074.hp1 HG02165.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18967.hp2 NA18973.hp1 NA18994.hp2 NA19010.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19080.hp2 NA19087.hp1 NA19089.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0004 a0009c0010 a0002c0002 a0003c0004 a0009c0010	a0002c0002t0008 a0002c0002t0012 a0002c0002t0036 others(2): Show a0002c0002t0008 a0002c0002t0012 a0002c0002t0036 a0003c0004t0008 a0009c0010t0008	a0002c0002t0008g0020 a0002c0002t0008g0041 a0002c0002t0012g0014 others(3): Show a0002c0002t0008g0020 a0002c0002t0008g0041 a0002c0002t0012g0014 a0002c0002t0036g0059 a0003c0004t0008g0022 a0009c0010t0008g0108	21	182	0.1154	13	c.13 others(24): Show c.1325_*1326insCCCCCCCCCCCCC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding	2/2	1325		chr10	TogoVar
SPRR2F_chr1_153107121_153118516	153113992	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	375	0.0027	13	c.-53 others(22): Show c.-539_-538insAAAAAAAAAAAAA	SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding		477		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231340657	G G	GCCCTTAC others(6): Show GCCCTTACTTACTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02258.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0069 a0001c0001t0010g0070 a0001c0001t0010g0069 a0001c0001t0010g0070	2	350	0.0057	13	c.321 others(28): Show c.321+790_321+791insCCTTACTTACTTC	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	213	0.0047	13	c.-28 others(34): Show c.-282+67544_-282+67545insGTGTGTGTGTGTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0113 a0001c0001t0085g0113	1	27	0.0370	13	c.22 others(24): Show c.2273_*2274insACACACACACACC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPRYD7_chr13_49907702_49941340	49907823	C C	CTGAGTAG others(6): Show CTGAGTAGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	378	0.0026	13	c.72 others(24): Show c.7239_*7240insTCCCAGCTACTCA	SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding		4878		chr13	TogoVar
SPSB1_chr1_9287894_9374532	9318981	T T	TGAGTTCA others(6): Show TGAGTTCAAGACCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(59): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0016 a0001c0002t0025 a0001c0002t0026 a0001c0002t0031 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0033 a0001c0003t0040 a0001c0003t0042 a0001c0003t0043 a0001c0003t0053 a0001c0004t0003 a0001c0004t0004 a0001c0006t0005 a0002c0007t0005	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(216): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0131 a0001c0001t0003g0155 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0222 a0001c0001t0004g0240 a0001c0001t0004g0263 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0311 a0001c0001t0004g0340 a0001c0001t0004g0344 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0045 a0001c0001t0005g0102 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0141 a0001c0001t0005g0148 a0001c0001t0005g0191 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0005g0359 a0001c0001t0006g0065 a0001c0001t0006g0092 a0001c0001t0006g0097 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0160 a0001c0001t0008g0274 a0001c0001t0008g0326 a0001c0001t0009g0288 a0001c0001t0011g0151 a0001c0001t0011g0153 a0001c0001t0011g0199 a0001c0001t0011g0227 a0001c0001t0011g0229 a0001c0001t0011g0230 a0001c0001t0011g0231 a0001c0001t0011g0232 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0011g0236 a0001c0001t0012g0039 a0001c0001t0012g0041 a0001c0001t0013g0226 a0001c0001t0014g0215 a0001c0001t0014g0216 a0001c0001t0014g0223 a0001c0001t0014g0224 a0001c0001t0014g0225 a0001c0001t0015g0014 a0001c0001t0015g0025 a0001c0001t0015g0154 a0001c0001t0015g0162 a0001c0001t0017g0030 a0001c0001t0017g0137 a0001c0001t0017g0150 a0001c0001t0017g0207 a0001c0001t0020g0197 a0001c0001t0020g0198 a0001c0001t0021g0152 a0001c0001t0021g0218 a0001c0001t0022g0042 a0001c0001t0022g0211 a0001c0001t0023g0040 a0001c0001t0023g0044 a0001c0001t0024g0135 a0001c0001t0024g0149 a0001c0001t0025g0356 a0001c0001t0027g0165 a0001c0001t0029g0035 a0001c0001t0030g0136 a0001c0001t0032g0214 a0001c0001t0034g0140 a0001c0001t0035g0217 a0001c0001t0036g0050 a0001c0001t0037g0029 a0001c0001t0038g0200 a0001c0001t0039g0289 a0001c0001t0044g0352 a0001c0001t0046g0201 a0001c0001t0047g0205 a0001c0001t0048g0206 a0001c0001t0049g0203 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0064 a0001c0002t0001g0112 a0001c0002t0001g0169 a0001c0002t0001g0176 a0001c0002t0001g0347 a0001c0002t0002g0262 a0001c0002t0005g0028 a0001c0002t0005g0038 a0001c0002t0005g0046 a0001c0002t0005g0047 a0001c0002t0005g0246 a0001c0002t0007g0023 a0001c0002t0007g0037 a0001c0002t0007g0079 a0001c0002t0007g0084 a0001c0002t0007g0085 a0001c0002t0007g0106 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0179 a0001c0002t0007g0190 a0001c0002t0008g0293 a0001c0002t0008g0349 a0001c0002t0009g0275 a0001c0002t0009g0285 a0001c0002t0009g0317 a0001c0002t0009g0363 a0001c0002t0010g0212 a0001c0002t0010g0264 a0001c0002t0010g0265 a0001c0002t0010g0277 a0001c0002t0010g0322 a0001c0002t0010g0354 a0001c0002t0011g0138 a0001c0002t0011g0221 a0001c0002t0016g0142 a0001c0002t0025g0355 a0001c0002t0026g0202 a0001c0002t0026g0204 a0001c0002t0031g0052 a0001c0003t0002g0002 a0001c0003t0002g0243 a0001c0003t0002g0245 a0001c0003t0002g0261 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0272 a0001c0003t0002g0276 a0001c0003t0002g0287 a0001c0003t0002g0294 a0001c0003t0002g0295 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0304 a0001c0003t0002g0321 a0001c0003t0002g0323 a0001c0003t0002g0334 a0001c0003t0002g0335 a0001c0003t0002g0336 a0001c0003t0002g0337 a0001c0003t0002g0338 a0001c0003t0002g0339 a0001c0003t0002g0345 a0001c0003t0002g0362 a0001c0003t0003g0001 a0001c0003t0003g0006 a0001c0003t0003g0009 a0001c0003t0003g0060 a0001c0003t0003g0088 a0001c0003t0003g0105 a0001c0003t0003g0156 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0004g0239 a0001c0003t0007g0061 a0001c0003t0012g0007 a0001c0003t0012g0021 a0001c0003t0012g0070 a0001c0003t0013g0114 a0001c0003t0013g0132 a0001c0003t0013g0133 a0001c0003t0013g0134 a0001c0003t0016g0104 a0001c0003t0016g0113 a0001c0003t0016g0146 a0001c0003t0033g0069 a0001c0003t0040g0296 a0001c0003t0042g0266 a0001c0003t0043g0267 a0001c0003t0053g0332 a0001c0004t0003g0062 a0001c0004t0004g0291 a0001c0006t0005g0049 a0002c0007t0005g0036	221	368	0.6005	13	c.-15 others(34): Show c.-150+25911_-150+25912insAGTTCAAGACCAG	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp1 HG01891.hp1 others(11): Show HG01109.hp2 HG01169.hp1 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG06807.hp2 NA18939.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 others(4): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0036 a0001c0002t0007	a0001c0001t0009g0149 a0001c0001t0009g0152 a0001c0001t0009g0155 others(10): Show a0001c0001t0009g0149 a0001c0001t0009g0152 a0001c0001t0009g0155 a0001c0001t0009g0193 a0001c0001t0013g0006 a0001c0001t0013g0140 a0001c0001t0013g0150 a0001c0001t0017g0158 a0001c0001t0019g0055 a0001c0001t0024g0026 a0001c0001t0024g0027 a0001c0001t0036g0154 a0001c0002t0007g0206	14	111	0.1261	13	c.695 others(32): Show c.695-34485_695-34473dupAAAAAAAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03491.hp1 NA18951.hp2 others(3): Show HG01346.hp1 HG03491.hp1 NA18951.hp2 NA18990.hp2 NA18998.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0042 a0001c0001t0002g0086 a0001c0001t0005g0006	6	168	0.0357	13	c.258 others(32): Show c.2587+1679_2587+1691dupAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01099.hp1 others(18): Show HG00140.hp1 HG00621.hp1 HG01099.hp1 HG02145.hp1 HG02155.hp1 HG02698.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp1 NA18939.hp1 NA18960.hp1 NA18980.hp1 NA18982.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0011	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0007t0001 a0003c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0155 a0001c0001t0001g0284 a0001c0001t0007g0065 a0001c0003t0001g0031 a0001c0003t0001g0133 a0001c0007t0001g0047 a0003c0011t0001g0066 a0003c0011t0001g0067	21	42	0.5000	13	c.-3- others(28): Show c.-3-5062_-3-5050dupAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128600974	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01361.hp2 others(31): Show HG00423.hp1 HG00423.hp2 HG01361.hp2 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp2 NA18949.hp2 NA18952.hp2 NA18969.hp2 NA18972.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA19063.hp1 NA19065.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0022 a0001c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0013t0001 a0001c0022t0001 a0001c0024t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0082 others(31): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0243 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0265 a0001c0002t0001g0270 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0005g0181 a0001c0003t0001g0122 a0001c0013t0001g0163 a0001c0022t0001g0260 a0001c0024t0001g0196	34	45	0.7556	13	c.357 others(30): Show c.3579+874_3579+886dupTTTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02572.hp1 others(7): Show HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0014 a0001c0002t0006 a0001c0003t0003 others(5): Show a0001c0001t0014 a0001c0002t0006 a0001c0003t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 a0001c0005t0025 a0001c0005t0043	a0001c0001t0014g0105 a0001c0002t0006g0149 a0001c0003t0003g0257 others(7): Show a0001c0001t0014g0105 a0001c0002t0006g0149 a0001c0003t0003g0257 a0001c0005t0008g0050 a0001c0005t0008g0368 a0001c0005t0011g0254 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0005t0025g0250 a0001c0005t0043g0039	10	11	0.9091	13	c.-48 others(32): Show c.-48+31317_-48+31329dupTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54530353	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01175.hp2 others(20): Show HG00438.hp2 HG00741.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01981.hp1 HG02080.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 NA18940.hp2 NA18945.hp2 NA18952.hp1 NA18957.hp1 NA19054.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0001c0033 a0006c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0004t0004 a0001c0004t0010 a0001c0019t0012 a0001c0033t0007 a0006c0022t0052	a0001c0001t0002g0095 a0001c0001t0004g0001 a0001c0001t0004g0091 others(20): Show a0001c0001t0002g0095 a0001c0001t0004g0001 a0001c0001t0004g0091 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0014g0104 a0001c0002t0001g0111 a0001c0004t0004g0068 a0001c0004t0004g0070 a0001c0004t0004g0170 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0202 a0001c0004t0004g0203 a0001c0004t0004g0265 a0001c0004t0004g0318 a0001c0004t0010g0109 a0001c0004t0010g0342 a0001c0019t0012g0252 a0001c0033t0007g0248 a0006c0022t0052g0083	23	87	0.2644	13	c.148 others(30): Show c.148+3798_148+3810dupTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562533	C C	CTTTTTTT others(6): Show CTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0299 a0001c0002t0006g0299	1	97	0.0103	13	c.148 others(32): Show c.148+35974_148+35975insCTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0161 a0001c0004t0002g0161	1	129	0.0078	13	c.149 others(32): Show c.149-23032_149-23020dupTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40491713	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0018 a0018	a0018c0051 a0018c0051	a0018c0051t0001 a0018c0051t0001	a0018c0051t0001g0221 a0018c0051t0001g0221	1	91	0.0110	13	c.496 others(30): Show c.496-1237_496-1225dupAAAAAAAAAAAAA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40555025	C C	CTCAAAAT others(6): Show CTCAAAATTTCACT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0119 a0006c0039t0001g0119	1	232	0.0043	13	c.508 others(30): Show c.5084+379_5084+380insTCAAAATTTCACT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	24/35			chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp2 HG02723.hp1 others(3): Show HG01081.hp1 HG02622.hp2 HG02723.hp1 HG03209.hp1 HG03225.hp1 NA19030.hp1	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0003 a0002c0012 a0002c0023 others(2): Show a0002c0003 a0002c0012 a0002c0023 a0005c0070 a0009c0020	a0002c0003t0005 a0002c0012t0010 a0002c0023t0010 others(2): Show a0002c0003t0005 a0002c0012t0010 a0002c0023t0010 a0005c0070t0022 a0009c0020t0001	a0002c0003t0005g0220 a0002c0012t0010g0257 a0002c0023t0010g0030 others(3): Show a0002c0003t0005g0220 a0002c0012t0010g0257 a0002c0023t0010g0030 a0002c0023t0010g0106 a0005c0070t0022g0031 a0009c0020t0001g0196	6	156	0.0385	13	c.660 others(32): Show c.6602+1597_6602+1609dupTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG01884.hp1 others(15): Show HG01099.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02615.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp2 NA18949.hp1 NA19043.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0269 a0001c0001t0001g0303 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058	18	102	0.1765	13	c.781 others(28): Show c.781-757_781-745dupAAAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	26	0.0385	13	c.130 others(32): Show c.1304-8040_1304-8039insAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13063637	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp2 NA19001.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0005	a0001c0001t0004g0242 a0001c0003t0005g0183 a0001c0001t0004g0242 a0001c0003t0005g0183	2	134	0.0149	13	c.304 others(30): Show c.304-8619_304-8618insATTTATTTATTTA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11			chr20	TogoVar

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