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
SLFN14_chr17_35538985_35565819	35539332	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01243.hp1 others(11): Show HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01361.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0010t0015 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0010t0015 a0002c0002t0002 a0002c0002t0028 a0003c0003t0004 a0005c0005t0019	a0001c0001t0001g0055 a0001c0010t0015g0042 a0001c0010t0015g0043 others(7): Show a0001c0001t0001g0055 a0001c0010t0015g0042 a0001c0010t0015g0043 a0002c0002t0002g0012 a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0028g0104 a0003c0003t0004g0003 a0003c0003t0004g0084 a0005c0005t0019g0125	14	234	0.0598	-32	c.88 others(43): Show c.8875_*8906delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		4652		chr17	TogoVar
SLIRP_chr14_77703103_77722598	77719534	AGGAGGCT others(25): Show AGGAGGCTGAGGCAGGAGAATCCCTTGAACCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-32	c.19 others(43): Show c.1974_*2005delGGAGGCTGAGGCAGGAGAATCCCTTGAACCTG	SLIRP	ENSG00000119705.10	transcript	ENST00000557342.6	protein_coding		1937		chr14	TogoVar
SLIT2_chr4_20246905_20625561	20291468	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03453.hp1 others(1): Show HG02559.hp1 HG03130.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0013 a0001c0002t0074 a0001c0001t0007 a0001c0002t0013 a0001c0002t0074	a0001c0001t0007g0165 a0001c0001t0007g0168 a0001c0002t0013g0171 others(1): Show a0001c0001t0007g0165 a0001c0001t0007g0168 a0001c0002t0013g0171 a0001c0002t0074g0169	4	222	0.0180	-32	c.395 others(51): Show c.395+22589_395+22620delATATATATATATATATATATATATTT TTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291470	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG03041.hp2 others(9): Show HG02486.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 NA18944.hp1 NA18969.hp1 NA18994.hp1 NA19010.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0013 a0001c0001t0024 a0001c0001t0058 others(6): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0058 a0001c0001t0075 a0001c0001t0076 a0001c0002t0007 a0001c0002t0019 a0001c0002t0024 a0001c0007t0057	a0001c0001t0013g0167 a0001c0001t0013g0172 a0001c0001t0024g0010 others(9): Show a0001c0001t0013g0167 a0001c0001t0013g0172 a0001c0001t0024g0010 a0001c0001t0058g0008 a0001c0001t0075g0173 a0001c0001t0076g0180 a0001c0002t0007g0175 a0001c0002t0007g0176 a0001c0002t0007g0182 a0001c0002t0019g0181 a0001c0002t0024g0009 a0001c0007t0057g0007	12	225	0.0533	-32	c.395 others(51): Show c.395+22591_395+22622delATATATATATATATATATATATTTTT TTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168755389	ATTTCTTT others(25): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00735.hp1 others(41): Show HG00408.hp1 HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18957.hp1 NA18989.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0014	a0001c0001 a0001c0003 a0001c0004 others(24): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0020 a0001c0026 a0001c0037 a0001c0041 a0001c0042 a0001c0047 a0001c0048 a0002c0002 a0003c0055 a0003c0057 a0004c0025 a0004c0036 a0006c0034 a0008c0035 a0012c0022 a0014c0064	a0001c0001t0001 a0001c0001t0024 a0001c0003t0015 others(35): Show a0001c0001t0001 a0001c0001t0024 a0001c0003t0015 a0001c0003t0016 a0001c0003t0031 a0001c0004t0006 a0001c0004t0010 a0001c0006t0002 a0001c0006t0033 a0001c0007t0014 a0001c0009t0003 a0001c0009t0012 a0001c0010t0008 a0001c0014t0009 a0001c0015t0006 a0001c0015t0016 a0001c0016t0008 a0001c0016t0036 a0001c0017t0001 a0001c0020t0003 a0001c0026t0004 a0001c0037t0001 a0001c0041t0001 a0001c0042t0032 a0001c0047t0011 a0001c0048t0004 a0002c0002t0005 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0003c0055t0010 a0003c0057t0017 a0004c0025t0006 a0004c0036t0010 a0006c0034t0012 a0008c0035t0004 a0012c0022t0022 a0014c0064t0014	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 others(41): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0024g0069 a0001c0003t0015g0007 a0001c0003t0015g0074 a0001c0003t0016g0050 a0001c0003t0031g0026 a0001c0004t0006g0054 a0001c0004t0010g0131 a0001c0006t0002g0043 a0001c0006t0033g0120 a0001c0007t0014g0055 a0001c0009t0003g0117 a0001c0009t0012g0035 a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0014t0009g0112 a0001c0015t0006g0070 a0001c0015t0016g0089 a0001c0016t0008g0080 a0001c0016t0036g0132 a0001c0017t0001g0029 a0001c0020t0003g0109 a0001c0026t0004g0067 a0001c0037t0001g0021 a0001c0041t0001g0053 a0001c0042t0032g0130 a0001c0047t0011g0012 a0001c0048t0004g0064 a0002c0002t0005g0082 a0002c0002t0018g0107 a0002c0002t0019g0105 a0002c0002t0023g0086 a0003c0055t0010g0115 a0003c0057t0017g0096 a0004c0025t0006g0013 a0004c0036t0010g0129 a0006c0034t0012g0046 a0008c0035t0004g0049 a0012c0022t0022g0004 a0014c0064t0014g0024	44	53	0.8302	-32	c.168 others(51): Show c.1686-1414_1686-1383delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	16/35			chr5	TogoVar
SLX4IP_chr20_10430305_10633030	10518470	TTCTTTTC others(25): Show TTCTTTTCCTTTCCTTTCCTTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0064 a0002c0002t0005g0064	1	253	0.0040	-32	c.28- others(49): Show c.28-37759_28-37728delCTTTTCCTTTCCTTTCCTTTTCCTTCCT TCCT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850769	CATTATGT others(25): Show CATTATGTATAATATATATTATATATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp2 others(72): Show HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18972.hp1 NA18980.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(54): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0147 a0001c0001t0184 a0001c0001t0186 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0001t0190 a0001c0001t0191 a0001c0001t0192 a0001c0001t0193 a0001c0001t0194 a0001c0001t0195 a0001c0001t0196 a0001c0001t0197 a0001c0001t0198 a0001c0001t0199 a0001c0001t0200 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0211 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0221 a0001c0001t0224 a0001c0001t0225 a0001c0001t0226 a0001c0001t0227 a0001c0001t0228 a0001c0001t0231 a0001c0001t0232 a0001c0001t0235 a0001c0001t0236 a0001c0001t0239 a0001c0001t0240 a0001c0001t0243 a0001c0001t0246	a0001c0001t0002g0014 a0001c0001t0002g0051 a0001c0001t0002g0062 others(71): Show a0001c0001t0002g0014 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0001t0009g0098 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0010g0059 a0001c0001t0010g0065 a0001c0001t0010g0068 a0001c0001t0011g0082 a0001c0001t0011g0084 a0001c0001t0011g0085 a0001c0001t0028g0077 a0001c0001t0028g0078 a0001c0001t0029g0100 a0001c0001t0029g0103 a0001c0001t0030g0052 a0001c0001t0030g0109 a0001c0001t0031g0001 a0001c0001t0032g0089 a0001c0001t0032g0092 a0001c0001t0033g0046 a0001c0001t0147g0115 a0001c0001t0184g0096 a0001c0001t0186g0039 a0001c0001t0187g0064 a0001c0001t0188g0049 a0001c0001t0189g0099 a0001c0001t0190g0047 a0001c0001t0191g0063 a0001c0001t0192g0067 a0001c0001t0193g0071 a0001c0001t0194g0038 a0001c0001t0195g0094 a0001c0001t0196g0075 a0001c0001t0197g0054 a0001c0001t0198g0056 a0001c0001t0199g0069 a0001c0001t0200g0091 a0001c0001t0201g0093 a0001c0001t0202g0105 a0001c0001t0203g0061 a0001c0001t0204g0104 a0001c0001t0205g0087 a0001c0001t0206g0041 a0001c0001t0207g0073 a0001c0001t0208g0074 a0001c0001t0209g0106 a0001c0001t0210g0010 a0001c0001t0211g0060 a0001c0001t0212g0076 a0001c0001t0213g0013 a0001c0001t0214g0108 a0001c0001t0215g0090 a0001c0001t0216g0088 a0001c0001t0221g0095 a0001c0001t0224g0037 a0001c0001t0225g0107 a0001c0001t0226g0050 a0001c0001t0227g0072 a0001c0001t0228g0045 a0001c0001t0231g0110 a0001c0001t0232g0043 a0001c0001t0235g0083 a0001c0001t0236g0307 a0001c0001t0239g0011 a0001c0001t0240g0048 a0001c0001t0243g0081 a0001c0001t0246g0055	75	109	0.6881	-32	c.784 others(47): Show c.784+473_784+504delATATATAATATATAATATATATTATACATA AT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248414	ACACACAC others(25): Show ACACACACACACACACACACACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0254 a0001c0002t0029g0254	1	384	0.0026	-32	c.35- others(47): Show c.35-1615_35-1584delAGAGAGAGAGAGTGTGTGTGTGTGTGTGTG TG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248428	ACACACAC others(25): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0149 a0001c0001t0011g0149	1	358	0.0028	-32	c.35- others(47): Show c.35-1629_35-1598delAGAGAGAGAGAGAGAGAGAGAGAGAGTGTG TG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCC2_chr12_56157359_56194483	56182766	CTTTTTAC others(25): Show CTTTTTACATAATCATAACCATACTAGATGATG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02572.hp1 others(6): Show HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 others(3): Show a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0158	9	248	0.0363	-32	c.633 others(47): Show c.633-719_633-688delCATCATCTAGTATGGTTATGATTATGTAAA AA	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	7/28			chr12	TogoVar
SMCO4_chr11_93473472_93548391	93543186	CCCCGCCC others(25): Show CCCCGCCCGGTGCCCGGTGCCCCGTGCCCCGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01106.hp1 others(20): Show HG00099.hp2 HG01070.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02083.hp2 HG02735.hp1 HG02738.hp2 HG03688.hp1 HG04115.hp2 NA18943.hp1 NA18956.hp1 NA19009.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0019	a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0002g0364 others(18): Show a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0003g0360 a0001c0002t0004g0349 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0350 a0001c0003t0005g0351 a0001c0003t0005g0352 a0001c0003t0005g0353 a0001c0003t0005g0354 a0001c0003t0005g0355 a0001c0003t0005g0356 a0001c0003t0005g0357 a0001c0003t0005g0359 a0001c0003t0005g0361 a0001c0003t0015g0362 a0001c0003t0019g0358	23	410	0.0561	-32	c.-15 others(47): Show c.-154+58_-154+89delCGCGGGGCACGGGGCACCGGGCACCGGGCG GG	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp2 HG02109.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0005 a0001c0001t0015g0004 a0001c0001t0012g0005 a0001c0001t0015g0004	2	64	0.0313	-32	c.621 others(49): Show c.6219+923_6219+954delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG7_chr1_183467499_183559191	183477519	TGTGTGTG others(25): Show TGTGTGTGCATATGTGTATATATGCATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp1 HG02056.hp2 others(3): Show HG02015.hp2 HG02027.hp1 HG02056.hp2 HG03225.hp1 NA18612.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0001c0001t0001 a0001c0001t0010 a0001c0001t0017	a0001c0001t0001g0172 a0001c0001t0010g0185 a0001c0001t0010g0186 others(3): Show a0001c0001t0001g0172 a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0017g0184	6	332	0.0181	-32	c.29+ others(47): Show c.29+5041_29+5072delATGTGTATATATGCATATATACGTGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM10L1_chr12_11166194_11181016	11168275	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01106.hp2 others(21): Show HG00408.hp2 HG00558.hp1 HG01106.hp2 HG01255.hp1 HG02602.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp2 NA19065.hp1 NA19065.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0022 a0001c0001t0036 a0001c0003t0001	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0022g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0022g0000 a0001c0001t0036g0000 a0001c0003t0001g0000	24	393	0.0611	-32	c.-30 others(43): Show c.-3081_-3050delGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2918		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168368	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03834.hp1 HG04228.hp1 others(1): Show HG00408.hp2 HG03834.hp1 HG04228.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	143	0.0280	-32	c.-29 others(43): Show c.-2988_-2957delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2825		chr12	TogoVar
SMIM14_chr4_39541336_39643865	39563891	CTCTTCTT others(25): Show CTCTTCTTCTTCCCCTTCTCTTCCTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0231 a0001c0001t0044g0231	1	342	0.0029	-32	c.125 others(49): Show c.125-7353_125-7322delAGAAGAAGAGGAAGAGAAGGGGAAGAAG AAGA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMIM24_chr19_3468986_3485525	3477721	ATGGATGG others(25): Show ATGGATGGGTGAGTGGGTGAATGGGTGAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00735.hp1 others(38): Show HG00408.hp1 HG00642.hp1 HG00735.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG03239.hp2 HG03490.hp1 NA18612.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18992.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0003 a0001c0001t0003 a0005c0005t0003	a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0050 others(4): Show a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0050 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0095 a0005c0005t0003g0084	41	420	0.0976	-32	c.239 others(47): Show c.239+666_239+697delCCCACTCACCCATTCACCCACTCACCCATC CA	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding	3/3			chr19	TogoVar
SMIM35_chr11_117998634_118091963	118048537	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(62): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18944.hp1 NA18955.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19070.hp1 NA19082.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0002c0002t0002 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0116 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0191 a0001c0001t0003g0045 a0001c0001t0003g0097 a0001c0001t0003g0148 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0302 a0001c0001t0003g0306 a0001c0001t0004g0093 a0001c0001t0004g0153 a0001c0001t0004g0192 a0001c0001t0004g0202 a0001c0001t0006g0003 a0001c0001t0006g0094 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0012g0218 a0001c0001t0014g0401 a0001c0001t0015g0219 a0001c0001t0016g0152 a0001c0001t0016g0300 a0001c0001t0018g0173 a0001c0001t0018g0181 a0002c0002t0002g0197 a0002c0002t0007g0090 a0002c0002t0007g0172 a0002c0002t0007g0216 a0002c0002t0007g0217 a0002c0002t0007g0221 a0003c0003t0013g0168 a0003c0003t0013g0171 a0003c0003t0013g0220 a0003c0003t0013g0298	65	111	0.5856	-32	c.8-3 others(47): Show c.8-32760_8-32729delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM44_chr19_3477110_3488441	3477721	ATGGATGG others(25): Show ATGGATGGGTGAGTGGGTGAATGGGTGAGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00735.hp1 others(39): Show HG00408.hp2 HG00642.hp1 HG00735.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG03239.hp1 HG03490.hp2 NA18612.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	42	398	0.1055	-32	c.50 others(43): Show c.5051_*5082delCCCACTCACCCATTCACCCACTCACCCATCCA	SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding		4388		chr19	TogoVar
SMN1_chr5_70920087_70958015	70954871	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02486.hp2 others(7): Show HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	10	36	0.2778	-32	c.24 others(43): Show c.2437_*2468delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1857		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168615514	GGTCTCTT others(25): Show GGTCTCTTCATCTTCATACTTACAGCCGGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 NA18906.hp2 others(1): Show HG02922.hp1 HG03139.hp1 NA18906.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0002t0002g0011 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0002t0002g0011 a0001c0005t0001g0126	4	178	0.0225	-32	c.907 others(49): Show c.907+7277_907+7308delTCTCTTCATCTTCATACTTACAGCCGGC ACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618390	GAGGAGAG others(25): Show GAGGAGAGTGGAGGAAAGGCGGGTAGTGGCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(41): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp1 HG02602.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA19000.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0005 a0001c0005t0001 a0001c0013t0002	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 others(41): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0149 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0002t0005g0069 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0005t0001g0126 a0001c0013t0002g0033	44	177	0.2486	-32	c.907 others(51): Show c.907+10166_907+10197delAAGGCGGGTAGTGGCATTAGGAGAGT GGAGGA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618405	AAGGCGGG others(25): Show AAGGCGGGTAGTGGCATTAGGAGAGTGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03195.hp2 others(5): Show HG02630.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0011t0006	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0002t0002g0003 a0001c0002t0002g0063 a0001c0002t0008g0045 a0001c0011t0006g0167	8	150	0.0533	-32	c.907 others(51): Show c.907+10249_907+10280delGGAGAGTGGAGGAGAGGCGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	18	0.0556	-32	c.14 others(49): Show c.14+9303_*14+9334delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4608044	CAGATGAC others(25): Show CAGATGACCTTCAAGTCACCTCCGCTCTCCGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0171 a0001c0003t0011g0171	1	440	0.0023	-32	c.55 others(41): Show c.558_*589delAGATGACCTTCAAGTCACCTCCGCTCTCCGGG	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	8/8	558		chr17	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	120	0.0083	-32	c.56- others(47): Show c.56-1436_56-1405delTATATATATATATATATATATATATATATA TA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065230	CCTCCCCT others(25): Show CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03579.hp2 NA19043.hp2 HG02280.hp1 HG03579.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0181 a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0181	3	331	0.0091	-32	c.-26 others(43): Show c.-2634_-2603delCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2594		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245879902	CAGCACAG others(25): Show CAGCACAGGTGCGTTGCTGTACACACCAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	149	0.0067	-32	c.814 others(51): Show c.814-16048_814-16017delATCTCTGGTGTGTACAGCAACGCACC TGTGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378838	TTATATAT others(25): Show TTATATATAATATATTTATATAGTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	150	0.0067	-32	c.165 others(51): Show c.165-23776_165-23745delTTTATATATACTATATAAATATATTA TATATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAI1_chr20_49977980_49993886	49978464	CATATATA others(25): Show CATATATACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00738.hp1 others(95): Show HG00323.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 others(5): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0002c0002t0002 a0002c0002t0007 a0002c0002t0016 a0002c0002t0018 a0005c0005t0002	a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 others(9): Show a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 a0001c0001t0010g0009 a0001c0001t0017g0013 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0007g0002 a0002c0002t0016g0002 a0002c0002t0018g0020 a0005c0005t0002g0002	98	406	0.2414	-32	c.-45 others(43): Show c.-4595_-4564delATATATACATATATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4515		chr20	TogoVar
SNAP25_chr20_10213830_10312418	10282146	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGATGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02895.hp1 others(2): Show HG02615.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0016 a0001c0001t0006g0224 a0001c0001t0006g0228 others(2): Show a0001c0001t0001g0016 a0001c0001t0006g0224 a0001c0001t0006g0228 a0001c0001t0006g0237 a0001c0001t0008g0235	5	285	0.0175	-32	c.115 others(49): Show c.115-2562_115-2531delTGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03942.hp2 NA18983.hp2 HG03516.hp1 HG03942.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0002g0104 a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0002g0104	3	27	0.1111	-32	c.166 others(53): Show c.1669+23861_1669+23892delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	240997118	CAGGCTCT others(25): Show CAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0014 a0002c0010t0014	a0002c0010t0014g0038 a0002c0010t0014g0038	1	342	0.0029	-32	c.-17 others(43): Show c.-1719_-1688delAGGCTCTCACCGAGAGCCGGCCTCAAGTAGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding		1499		chr2	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01074.hp2 others(5): Show HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG02258.hp1 HG02451.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0001t0014 a0001c0008t0001 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0008t0001 a0001c0011t0020	a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0214 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0214 a0001c0001t0002g0223 a0001c0001t0014g0213 a0001c0008t0001g0027 a0001c0011t0020g0020	8	19	0.4211	-32	c.732 others(47): Show c.732-444_732-413delATATATATATATATATATATATATATATAT AT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPD3_chr22_24550999_24579971	24575517	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	398	0.0025	-32	c.35 others(43): Show c.3541_*3572delCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding		547		chr22	TogoVar
SNTG1_chr8_49906407_50801692	50734776	TATAGATA others(25): Show TATAGATATCTATATATATGGACATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0050 a0002c0003t0043g0050	1	106	0.0094	-32	c.128 others(53): Show c.1285-17221_1285-17190delGATATCTATATATATGGACATATA TATAGATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0136 a0021c0027t0001g0136	1	11	0.0909	-32	c.72+ others(49): Show c.72+54776_72+54807delTATATATATATATATATATATATATATA TATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056786	AGGGAGGG others(25): Show AGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp1 HG02683.hp1 HG01106.hp2 HG01891.hp1 HG02683.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0008 a0004c0004 a0002c0003 a0003c0008 a0004c0004	a0002c0003t0001 a0003c0008t0001 a0004c0004t0001 a0002c0003t0001 a0003c0008t0001 a0004c0004t0001	a0002c0003t0001g0148 a0003c0008t0001g0011 a0004c0004t0001g0088 a0002c0003t0001g0148 a0003c0008t0001g0011 a0004c0004t0001g0088	3	187	0.0160	-32	c.73- others(49): Show c.73-26720_73-26689delCGTCGCGCTGTGCTGTGGGGCGGGAGGG AGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1116998	CGAGTGCC others(25): Show CGAGTGCCCTGGTGTGTGGGTGCTCTGGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	187	0.0053	-32	c.325 others(51): Show c.325+18622_325+18653delAGTGCCCTGGTGTGTGGGTGCTCTGG TGTGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1190495	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02647.hp1 others(3): Show HG02486.hp1 HG02615.hp1 HG02647.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0003 a0005 a0013 a0003 a0005 a0013	a0003c0007 a0005c0015 a0013c0018 a0003c0007 a0005c0015 a0013c0018	a0003c0007t0001 a0003c0007t0002 a0005c0015t0001 others(1): Show a0003c0007t0001 a0003c0007t0002 a0005c0015t0001 a0013c0018t0001	a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 others(3): Show a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0005c0015t0001g0153 a0013c0018t0001g0045	6	39	0.1538	-32	c.591 others(51): Show c.591+17326_591+17357delATATATATATATATATATATATATAT ATATAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222095	GTCTCTCT others(25): Show GTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0010 a0006c0010t0001g0010	1	167	0.0060	-32	c.719 others(51): Show c.719+12873_719+12904delCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842523	AGAAAGAG others(25): Show AGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG02280.hp1 others(2): Show HG00423.hp1 HG01261.hp1 HG02280.hp1 HG03654.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003	a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0005g0031 others(2): Show a0001c0001t0002g0002 a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0002t0003g0077 a0001c0002t0003g0083	5	288	0.0174	-32	c.-53 others(41): Show c.-530_-499delGCTCTCTCCCTCGCTCGTTTTCTTTCTCTTTC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		339		chr8	TogoVar
SNX18_chr5_54512759_54551586	54512850	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0184 a0001c0002t0002g0157 a0001c0002t0001g0184 a0001c0002t0002g0157	2	388	0.0052	-32	c.-51 others(43): Show c.-5102_-5071delCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4908		chr5	TogoVar
SNX27_chr1_151607050_151704080	151641931	TGAGATAT others(25): Show TGAGATATATATATCAGCTATAGATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0349 a0001c0001t0053g0349	1	364	0.0027	-32	c.543 others(49): Show c.543+2815_543+2846delGATATATATATCAGCTATAGATATATAT GAGA	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151641948	CTATAGAT others(25): Show CTATAGATATATATGAGATATATATATATCAGA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18948.hp1 NA18986.hp2 others(1): Show HG02015.hp2 NA18948.hp1 NA18986.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0213 a0001c0001t0001g0246 a0001c0001t0004g0207 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0246 a0001c0001t0004g0207 a0001c0001t0018g0300	4	354	0.0113	-32	c.543 others(49): Show c.543+2856_543+2887delATCAGATATAGATATATATGAGATATAT ATAT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18941.hp2 NA18951.hp2 others(1): Show HG03927.hp1 NA18941.hp2 NA18951.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0013g0258 others(1): Show a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0013g0258 a0001c0001t0013g0259	4	5	0.8000	-32	c.115 others(51): Show c.1150-7064_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12575846	TTGTTTTT others(25): Show TTGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0039 a0001c0001t0061g0039	1	172	0.0058	-32	c.72 others(43): Show c.7218_*7249delTGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1560		chr16	TogoVar
SOBP_chr6_107485117_107666306	107488352	CGCAAAGC others(25): Show CGCAAAGCCTGGCTCGCTCTGGCCTCCTGGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	294	0.0034	-32	c.-22 others(43): Show c.-2264_-2233delGCAAAGCCTGGCTCGCTCTGGCCTCCTGGCTT	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding		1764		chr6	TogoVar
SOBP_chr6_107485117_107666306	107656339	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGTA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	294	0.0034	-32	c.4- others(47): Show c.4-1866_*4-1835delAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT AA	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SON_chr21_33538038_33582481	33577603	CTACACAC others(25): Show CTACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	359	0.0028	-32	c.11 others(43): Show c.1180_*1211delTACACACACACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		123		chr21	TogoVar

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