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
SPATS2_chr12_49362462_49532425	49516167	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	121	0.0083	-19	c.898 others(36): Show c.898+1555_898+1573delTATATATATATATATATAT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	10/13			chr12	TogoVar
SPC25_chr2_168865891_168895430	168868493	AATAGACG others(12): Show AATAGACGCAATAAAAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	360	0.0028	-19	c.29 others(30): Show c.2919_*2937delCATTTTTTATTGCGTCTAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding		2397		chr2	TogoVar
SPDL1_chr5_169578773_169609778	169606114	CATACTCC others(12): Show CATACTCCACCCAAAGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01346.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	396	0.0051	-19	c.19 others(30): Show c.1908_*1926delATACTCCACCCAAAGGAGA	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding		1337		chr5	TogoVar
SPDYA_chr2_28805834_28855610	28854738	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18990.hp1 NA18978.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0280 a0001c0001t0001g0293	2	59	0.0339	-19	c.47 others(30): Show c.4798_*4816delAAAAAAAAAAAAAAAAAAA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding		4129		chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73150908	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	125	0.0080	-19	c.-64 others(38): Show c.-640+4396_-640+4414delATATATATATATATATATA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	44	0.0227	-19	c.-26 others(30): Show c.-2653_-2635delAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67280691	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03704.hp1 HG02572.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0138 a0001c0001t0005g0106 a0001c0001t0003g0138 a0001c0001t0005g0106	2	56	0.0357	-19	c.380 others(34): Show c.380-663_380-645delAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE9_chr7_73070972_73091038	73083722	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG03516.hp2 others(2): Show HG01243.hp2 HG02451.hp2 HG03516.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0003g0022 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0003g0022 a0001c0001t0004g0005 a0001c0001t0004g0011	5	156	0.0321	-19	c.130 others(34): Show c.130+368_130+386delAAAAAAAGAAGAAAAAAAA	SPDYE9	ENSG00000262461.7	transcript	ENST00000575125.6	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24273142	GTTTCTTC others(12): Show GTTTCTTCCTCAGATGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	324	0.0031	-19	c.-14 others(38): Show c.-142+2162_-142+2180delTCTTCCTCAGATGTGATTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20038367	GCATTGCT others(12): Show GCATTGCTTTAACTATGTCC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02109.hp1 others(3): Show HG01192.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp2 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0058 a0001c0003t0063 others(2): Show a0001c0003t0022 a0001c0003t0058 a0001c0003t0063 a0001c0003t0065 a0001c0003t0066	a0001c0003t0022g0196 a0001c0003t0022g0198 a0001c0003t0058g0195 others(3): Show a0001c0003t0022g0196 a0001c0003t0022g0198 a0001c0003t0058g0195 a0001c0003t0063g0194 a0001c0003t0065g0242 a0001c0003t0066g0197	6	248	0.0242	-19	c.-22 others(38): Show c.-22+28946_-22+28964delTTGCTTTAACTATGTCCCA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20188479	AATTCCTG others(12): Show AATTCCTGACCTCAGGTGAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01070.hp1 HG01099.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0074 a0003c0007t0003g0075	2	248	0.0081	-19	c.284 others(38): Show c.284-15834_284-15816delATTCCTGACCTCAGGTGAT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20227004	CCTCCCAG others(12): Show CCTCCCAGGGAAGCACTGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01070.hp1 others(66): Show HG00140.hp2 HG00408.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19240.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0016 others(6): Show a0001c0001 a0001c0003 a0001c0016 a0003c0004 a0003c0007 a0003c0012 a0003c0013 a0004c0005 a0004c0015	a0001c0001t0031 a0001c0001t0032 a0001c0001t0101 others(33): Show a0001c0001t0031 a0001c0001t0032 a0001c0001t0101 a0001c0003t0051 a0001c0003t0052 a0001c0016t0106 a0003c0004t0003 a0003c0004t0009 a0003c0004t0013 a0003c0004t0019 a0003c0004t0021 a0003c0004t0030 a0003c0004t0043 a0003c0004t0044 a0003c0004t0057 a0003c0004t0071 a0003c0004t0080 a0003c0007t0003 a0003c0007t0009 a0003c0007t0013 a0003c0012t0042 a0003c0012t0049 a0003c0013t0050 a0004c0005t0008 a0004c0005t0010 a0004c0005t0024 a0004c0005t0038 a0004c0005t0047 a0004c0005t0059 a0004c0005t0060 a0004c0005t0061 a0004c0005t0067 a0004c0005t0068 a0004c0005t0069 a0004c0005t0070 a0004c0015t0062	a0001c0001t0031g0178 a0001c0001t0031g0181 a0001c0001t0032g0002 others(66): Show a0001c0001t0031g0178 a0001c0001t0031g0181 a0001c0001t0032g0002 a0001c0001t0032g0180 a0001c0001t0101g0179 a0001c0003t0051g0057 a0001c0003t0052g0011 a0001c0016t0106g0103 a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0084 a0003c0004t0003g0086 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0210 a0003c0004t0003g0212 a0003c0004t0003g0220 a0003c0004t0009g0077 a0003c0004t0009g0092 a0003c0004t0009g0095 a0003c0004t0013g0219 a0003c0004t0019g0083 a0003c0004t0019g0211 a0003c0004t0021g0081 a0003c0004t0021g0094 a0003c0004t0030g0191 a0003c0004t0030g0192 a0003c0004t0043g0085 a0003c0004t0044g0203 a0003c0004t0057g0217 a0003c0004t0071g0087 a0003c0004t0080g0190 a0003c0007t0003g0074 a0003c0007t0003g0075 a0003c0007t0003g0076 a0003c0007t0003g0088 a0003c0007t0003g0091 a0003c0007t0009g0099 a0003c0007t0013g0073 a0003c0007t0013g0080 a0003c0012t0042g0100 a0003c0012t0049g0098 a0003c0013t0050g0082 a0004c0005t0008g0223 a0004c0005t0008g0224 a0004c0005t0008g0231 a0004c0005t0008g0234 a0004c0005t0008g0237 a0004c0005t0010g0225 a0004c0005t0010g0235 a0004c0005t0010g0240 a0004c0005t0010g0241 a0004c0005t0024g0227 a0004c0005t0024g0236 a0004c0005t0038g0230 a0004c0005t0047g0202 a0004c0005t0059g0228 a0004c0005t0060g0233 a0004c0005t0061g0229 a0004c0005t0067g0222 a0004c0005t0068g0226 a0004c0005t0069g0232 a0004c0005t0070g0239 a0004c0015t0062g0238	69	248	0.2782	-19	c.186 others(36): Show c.1864-384_1864-366delAGGGAAGCACTGCTCTCCC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20270433	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0102 a0001c0010t0102	a0001c0010t0102g0173 a0001c0010t0102g0173	1	12	0.0833	-19	c.294 others(40): Show c.2940+10155_2940+10173delAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEG_chr2_219429843_219498629	219442777	TCGGGCTG others(12): Show TCGGGCTGTTGCCCTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02257.hp1 HG02818.hp2 others(1): Show HG01257.hp1 HG02257.hp1 HG02818.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0076 a0001c0002 a0001c0076	a0001c0002t0001 a0001c0076t0001 a0001c0002t0001 a0001c0076t0001	a0001c0002t0001g0062 a0001c0002t0001g0280 a0001c0002t0001g0281 others(1): Show a0001c0002t0001g0062 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0076t0001g0105	4	302	0.0132	-19	c.389 others(36): Show c.389-1848_389-1830delTGCCCTGGTCCCGGGCTGT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEG_chr2_219429843_219498629	219463392	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	38	0.0263	-19	c.270 others(38): Show c.2706-1021_2706-1003delTTTTTTTTTTTTTTTTTTT	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPG11_chr15_44557696_44668662	44576877	AGTGCAGT others(12): Show AGTGCAGTGGCACCATCTCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0012 a0013 a0012 a0013	a0012c0020 a0013c0017 a0012c0020 a0013c0017	a0012c0020t0001 a0013c0017t0001 a0012c0020t0001 a0013c0017t0001	a0012c0020t0001g0123 a0013c0017t0001g0065 a0012c0020t0001g0123 a0013c0017t0001g0065	2	188	0.0106	-19	c.586 others(38): Show c.5867-1855_5867-1837delCGAGATGGTGCCACTGCAC	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	30/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44636925	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03017.hp2 HG01106.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0091 a0001c0001t0001g0094	2	140	0.0143	-19	c.160 others(38): Show c.1603-3307_1603-3289delTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPIC_chr12_101470336_101491997	101479288	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	382	0.0026	-19	c.98- others(32): Show c.98-274_98-256delAAAGAAAGAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47309045	GCTTCCTA others(12): Show GCTTCCTACTCCACCATCTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004	4	214	0.0187	-19	c.525 others(38): Show c.525+15017_525+15035delTTCCTACTCCACCATCTTC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	19	0.0526	-19	c.526 others(38): Show c.526-28010_526-27992delAAAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545100	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	214	0.0047	-19	c.109 others(40): Show c.1098-50708_1098-50690delCTTTCTTTCTTTCTTTCTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	3	0.3333	-19	c.154 others(40): Show c.1545-32934_1545-32916delTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK7_chr5_148307423_148320919	148320796	GCATTCGC others(12): Show GCATTCGCGGTTCACGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(155): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0004g0006 a0001c0001t0006g0002 a0001c0001t0007g0006 a0002c0003t0002g0012	158	446	0.3543	-19	c.51 others(30): Show c.5113_*5131delCATTCGCGGTTCACGTGAT	SPINK7	ENSG00000145879.11	transcript	ENST00000274565.5	protein_coding		4878		chr5	TogoVar
SPINT2_chr19_38259573_38297615	38259633	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	395	0.0025	-19	c.-52 others(30): Show c.-5259_-5241delTATATATTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4939		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259639	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02040.hp2 others(1): Show HG00735.hp1 HG01891.hp1 HG02040.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0167 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170	4	207	0.0193	-19	c.-52 others(30): Show c.-5253_-5235delTTTTTTTTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4933		chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12476270	GGCTCACG others(12): Show GGCTCACGCCTGTAATCCCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0264 a0001c0002t0010g0264	1	326	0.0031	-19	c.140 others(38): Show c.1404+3410_1404+3428delTGGGATTACAGGCGTGAGC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12478534	TAGCTAGG others(12): Show TAGCTAGGGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp1 others(10): Show HG00140.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG02602.hp2 HG03017.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0033	a0001c0001t0006g0022 a0001c0001t0006g0026 a0001c0001t0006g0027 others(10): Show a0001c0001t0006g0022 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0032 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0014g0018 a0001c0001t0014g0019 a0001c0001t0024g0090 a0001c0001t0033g0313	13	326	0.0399	-19	c.140 others(38): Show c.1404+1146_1404+1164delTCACACACACACCCTAGCT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPNS2_chr17_4493881_4544035	4527112	AGAAACAG others(12): Show AGAAACAGGTCACCTCCAGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02976.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0349 a0001c0001t0004g0234 a0001c0001t0004g0350 a0001c0001t0001g0349 a0001c0001t0004g0234 a0001c0001t0004g0350	3	402	0.0075	-19	c.573 others(36): Show c.573+1923_573+1941delACAGGTCACCTCCAGTGAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137256211	TCCCTCTT others(12): Show TCCCTCTTTTAAAGGCTAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	152	0.0066	-19	c.232 others(38): Show c.232+10780_232+10798delTTTAGCCTTTAAAAGAGGG	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	4	0.2500	-19	c.187 others(38): Show c.187-25390_187-25372delTTTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167223031	TTATATTT others(12): Show TTATATTTTATATATGAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp2 HG02683.hp2 HG00140.hp1 HG01884.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0082 a0001c0001t0002g0110 a0001c0001t0004g0081 a0001c0001t0002g0082 a0001c0001t0002g0110 a0001c0001t0004g0081	3	140	0.0214	-19	c.189 others(38): Show c.189+10935_189+10953delTATTCATATATAAAATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0003t0001g0101 a0001c0001t0001g0028 a0001c0003t0001g0101	2	3	0.6667	-19	c.677 others(38): Show c.677-21818_677-21800delTTTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161156	TTTATATA others(12): Show TTTATATATATCTATATATC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	215	0.0047	-19	c.825 others(38): Show c.825+25590_825+25608delTATATATATCTATATATCT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161580	GTGTGCCG others(12): Show GTGTGCCGGGATTACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	222	0.0045	-19	c.825 others(38): Show c.825+26015_825+26033delTGCCGGGATTACAGGCATG	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOUT1_chr9_128814651_128834794	128819254	GTTCTTCT others(12): Show GTTCTTCTGCAGAACGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	408	0.0025	-19	c.34 others(30): Show c.3492_*3510delGCCCCGTTCTGCAGAAGAA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		396		chr9	TogoVar
SPOUT1_chr9_128814651_128834794	128830632	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03516.hp2 NA20300.hp2 HG03041.hp2 HG03516.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0002 a0002c0002t0002g0015	3	7	0.4286	-19	c.-87 others(28): Show c.-871_-853delAAAAAAAAAAAAAAAAAAA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		839		chr9	TogoVar
SPPL2A_chr15_50697266_50770706	50703342	ATATACAT others(12): Show ATATACATATATATATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0012 a0001c0001t0024g0011 a0001c0001t0024g0012	2	333	0.0060	-19	c.44 others(30): Show c.4439_*4457delAAAAATATATATATGTATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4439		chr15	TogoVar
SPRED2_chr2_65305851_65437599	65338234	GTCTCCCT others(12): Show GTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01433.hp1 others(15): Show HG01074.hp2 HG01175.hp2 HG01433.hp1 HG01884.hp2 HG02055.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03486.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0003t0003 a0001c0009t0001	a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 others(15): Show a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0250 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0259 a0001c0002t0001g0205 a0001c0003t0003g0221 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0009t0001g0222	18	139	0.1295	-19	c.205 others(36): Show c.205-3480_205-3462delGGGAGACGGGAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38388375	TCTCGCCC others(12): Show TCTCGCCCCACCCCTTATCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	358	0.0028	-19	c.-43 others(28): Show c.-436_-418delCTCGCCCCACCCCTTATCG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		321		chr19	TogoVar
SPRN_chr10_133415666_133429625	133428867	AGCATGCA others(12): Show AGCATGCAGAATAGGATGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(225): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010	a0001c0001 a0001c0007 a0001c0014 others(7): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002 a0002c0003 a0003c0004 a0005c0013 a0007c0015 a0008c0012 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0007t0001 a0001c0014t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0055 a0002c0003t0001 a0002c0003t0031 a0002c0003t0062 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0005c0013t0001 a0007c0015t0010 a0008c0012t0045 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0010g0006 a0001c0001t0021g0025 a0001c0001t0025g0039 a0001c0001t0044g0074 a0001c0001t0046g0075 a0001c0001t0047g0086 a0001c0001t0049g0077 a0001c0001t0050g0078 a0001c0001t0051g0079 a0001c0001t0052g0080 a0001c0001t0054g0099 a0001c0007t0001g0017 a0001c0007t0001g0090 a0001c0014t0001g0083 a0002c0002t0004g0042 a0002c0002t0007g0026 a0002c0002t0009g0035 a0002c0002t0055g0101 a0002c0003t0001g0070 a0002c0003t0031g0053 a0002c0003t0062g0085 a0003c0004t0004g0018 a0003c0004t0005g0008 a0003c0004t0008g0022 a0005c0013t0001g0082 a0007c0015t0010g0084 a0008c0012t0045g0072 a0010c0011t0001g0071	228	461	0.4946	-19	c.-44 others(30): Show c.-4430_-4412delAACATCCTATTCTGCATGC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		4243		chr10	TogoVar
SPRTN_chr1_231333293_231360023	231359091	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	348	0.0029	-19	c.57 others(30): Show c.5731_*5749delATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4069		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155671649	GCAAATAT others(12): Show GCAAATATAAAACCTTAAGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0092 a0001c0001t0042g0092	1	229	0.0044	-19	c.-28 others(40): Show c.-282+59005_-282+59023delAATATAAAACCTTAAGACA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB4_chr3_141046347_141153611	141142803	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01433.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 others(5): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0036 a0001c0001t0049 a0001c0001t0053 a0001c0002t0008 a0001c0002t0052	a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0009g0152 others(18): Show a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0009g0152 a0001c0001t0009g0155 a0001c0001t0009g0192 a0001c0001t0009g0193 a0001c0001t0013g0006 a0001c0001t0013g0140 a0001c0001t0013g0150 a0001c0001t0013g0151 a0001c0001t0019g0055 a0001c0001t0036g0154 a0001c0001t0049g0230 a0001c0001t0053g0200 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 a0001c0002t0008g0227 a0001c0002t0008g0228 a0001c0002t0008g0229 a0001c0002t0052g0225	22	118	0.1864	-19	c.695 others(36): Show c.695-4326_695-4308delTTTTTTTTTTTTTTTTTTT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158670655	TCTTCCTT others(12): Show TCTTCCTTTCACTTCTCTGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	368	0.0027	-19	c.159 others(36): Show c.1599+669_1599+687delTCAGAGAAGTGAAAGGAAG	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	12/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128562971	AATATATA others(12): Show AATATATATATACATGTATG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	172	0.0058	-19	c.-3- others(34): Show c.-3-3766_-3-3748delATATATATATACATGTATG	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56			chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0216 a0001c0004t0004g0216	1	251	0.0040	-19	c.-48 others(38): Show c.-48+10071_-48+10089delAAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54654954	ACCATCAG others(12): Show ACCATCAGTTTCTTTCAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(86): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0019 a0001c0021 a0001c0026 a0004c0034 a0008c0028	a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0007t0001 a0001c0014t0001 a0001c0014t0037 a0001c0019t0012 a0001c0021t0001 a0001c0026t0006 a0004c0034t0001 a0008c0028t0001	a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0029g0100 others(86): Show a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0134 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0180 a0001c0002t0001g0212 a0001c0002t0001g0231 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0291 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0005g0121 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0115 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0273 a0001c0002t0006g0276 a0001c0002t0006g0279 a0001c0002t0006g0290 a0001c0002t0006g0293 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0332 a0001c0002t0006g0333 a0001c0002t0006g0334 a0001c0002t0028g0295 a0001c0002t0028g0296 a0001c0002t0029g0339 a0001c0002t0046g0330 a0001c0002t0047g0271 a0001c0002t0048g0025 a0001c0007t0001g0081 a0001c0007t0001g0120 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0302 a0001c0007t0001g0311 a0001c0014t0001g0014 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0019t0012g0246 a0001c0019t0012g0252 a0001c0021t0001g0193 a0001c0026t0006g0102 a0004c0034t0001g0002 a0008c0028t0001g0006	89	368	0.2418	-19	c.582 others(34): Show c.5823-98_5823-80delGGCCATCAGTTTCTTTCAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40531464	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02615.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02895.hp2 HG03453.hp1 HG03579.hp1 NA19043.hp1	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0010 a0004c0007 a0004c0011 others(2): Show a0001c0010 a0004c0007 a0004c0011 a0004c0025 a0014c0031	a0001c0010t0001 a0004c0007t0003 a0004c0011t0001 others(2): Show a0001c0010t0001 a0004c0007t0003 a0004c0011t0001 a0004c0025t0001 a0014c0031t0001	a0001c0010t0001g0091 a0004c0007t0003g0002 a0004c0011t0001g0136 others(4): Show a0001c0010t0001g0091 a0004c0007t0003g0002 a0004c0011t0001g0136 a0004c0011t0001g0137 a0004c0011t0001g0141 a0004c0025t0001g0056 a0014c0031t0001g0057	7	29	0.2414	-19	c.394 others(38): Show c.3949-1144_3949-1126delTTTTTTTTTTTTTTTTTTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	18/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTSSA_chr14_34427788_34467240	34439567	CTTCCCAA others(12): Show CTTCCCAACAGTCCAAACCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02486.hp2 HG01884.hp2 HG02055.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0274 a0001c0001t0011g0275 a0001c0001t0011g0028 a0001c0001t0011g0274 a0001c0001t0011g0275	3	342	0.0088	-19	c.113 others(36): Show c.113-4282_113-4264delTGGTTTGGACTGTTGGGAA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19080.hp1 NA19030.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0008 a0001c0002t0006g0145 a0001c0001t0001g0008 a0001c0002t0006g0145	2	68	0.0294	-19	c.302 others(34): Show c.302-396_302-378delAAAAAAAAAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar

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