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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SMAGP_chr12_51239558_51275415	51248424	ACACACAC others(11): Show ACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0262 a0001c0001t0030g0262	1	404	0.0025	-18	c.35- others(33): Show c.35-1611_35-1594delAGAGAGAGTGTGTGTGTG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248426	ACACACAC others(11): Show ACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01975.hp1 HG01978.hp2 others(9): Show HG00558.hp1 HG01975.hp1 HG01978.hp2 HG02523.hp2 HG03516.hp2 HG04199.hp1 NA18747.hp1 NA18966.hp1 NA18981.hp1 NA19005.hp2 NA19010.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0130 a0001c0001t0002g0265 a0001c0001t0003g0024 others(9): Show a0001c0001t0001g0130 a0001c0001t0002g0265 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0328 a0001c0001t0011g0053	12	362	0.0331	-18	c.35- others(33): Show c.35-1613_35-1596delAGAGAGAGAGTGTGTGTG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248428	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00597.hp1 others(21): Show HG00280.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01175.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp2 HG02572.hp2 HG02818.hp2 HG02970.hp1 HG03834.hp2 HG03927.hp2 NA18949.hp1 NA18959.hp2 NA18964.hp2 NA18988.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020	a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0330 others(20): Show a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0330 a0001c0001t0003g0004 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0331 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0011g0165 a0001c0001t0016g0229 a0001c0001t0016g0237 a0001c0001t0020g0184	24	381	0.0630	-18	c.35- others(33): Show c.35-1615_35-1598delAGAGAGAGAGAGTGTGTG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248430	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	345	0.0029	-18	c.35- others(33): Show c.35-1617_35-1600delAGAGAGAGAGAGAGTGTG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248434	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 NA19240.hp2 HG02896.hp1 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0033 a0001c0001t0001 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0182 a0001c0001t0032g0233 a0001c0001t0033g0357 a0001c0001t0001g0182 a0001c0001t0032g0233 a0001c0001t0033g0357	3	271	0.0111	-18	c.35- others(33): Show c.35-1621_35-1604delAGAGAGAGAGAGAGAGAG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAP1_chr6_70662883_70867003	70682170	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03239.hp2 HG03041.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0134 a0001c0001t0006g0146 a0001c0001t0001g0134 a0001c0001t0006g0146	2	40	0.0500	-18	c.118 others(37): Show c.118+14048_118+14065delTTTTTTTTTTTTTTTTTT		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70808902	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0141 a0001c0001t0001g0156	2	32	0.0625	-18	c.576 others(37): Show c.576+10187_576+10204delGTGTGTGTGTGTGTGTGT		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70861294	AAACCTGT others(11): Show AAACCTGTTCAAGTCTACC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG02080.hp2 HG00621.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0163 a0001c0001t0008g0131 a0001c0001t0008g0163	2	304	0.0066	-18	c.98 others(27): Show c.981_*998delCCTGTTCAAGTCTACCAA		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	11/11				981	INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129504549	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03098.hp1 others(4): Show HG02647.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	7	83	0.0843	-18	c.116 others(35): Show c.1167+167_1167+184delTTTTTTTTTTTTTTTTTT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24						chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2039776	ACAGCAGC others(11): Show ACAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp2 NA18968.hp1 HG03225.hp2 NA18968.hp1	a0010 a0010	a0010c0044 a0010c0045 a0010c0044 a0010c0045	a0010c0044t0002 a0010c0045t0001 a0010c0044t0002 a0010c0045t0001	a0010c0044t0002g0274 a0010c0045t0001g0007 a0010c0044t0002g0274 a0010c0045t0001g0007	2	185	0.0108	-18	c.690 others(25): Show c.690_707delGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln231_Gln236del	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	4/34	784/5748	690/4773	230/1590		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2082306	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0178 a0006c0018t0001g0178	1	182	0.0055	-18	c.234 others(35): Show c.2348+339_2348+356delTGTGTGTGTGTGTGTGTG		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	15/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2156414	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0257 a0005c0020t0001g0257	1	13	0.0769	-18	c.398 others(37): Show c.3982-5257_3982-5240delTTTTTTTTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2191856	TTTTAAGT others(11): Show TTTTAAGTACCTAGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(81): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18987.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19070.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0014 a0015 a0017	a0001c0001 a0001c0003 a0001c0025 others(34): Show a0001c0001 a0001c0003 a0001c0025 a0002c0002 a0002c0005 a0002c0010 a0002c0047 a0003c0006 a0003c0007 a0003c0012 a0003c0013 a0003c0029 a0003c0030 a0003c0038 a0003c0056 a0003c0069 a0004c0011 a0004c0014 a0004c0017 a0004c0024 a0004c0026 a0004c0049 a0004c0050 a0005c0020 a0005c0021 a0005c0031 a0005c0059 a0005c0060 a0006c0052 a0007c0064 a0009c0062 a0011c0041 a0011c0053 a0012c0068 a0014c0065 a0015c0057 a0017c0054	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(48): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0025t0001 a0002c0002t0002 a0002c0005t0001 a0002c0010t0001 a0002c0047t0001 a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0018 a0003c0012t0001 a0003c0012t0002 a0003c0012t0010 a0003c0013t0001 a0003c0029t0001 a0003c0030t0001 a0003c0038t0001 a0003c0056t0003 a0003c0069t0002 a0004c0011t0001 a0004c0011t0017 a0004c0014t0001 a0004c0014t0002 a0004c0014t0003 a0004c0017t0001 a0004c0017t0002 a0004c0017t0003 a0004c0024t0001 a0004c0026t0002 a0004c0026t0003 a0004c0049t0001 a0004c0050t0002 a0005c0020t0001 a0005c0021t0001 a0005c0021t0002 a0005c0031t0001 a0005c0059t0002 a0005c0060t0001 a0006c0052t0002 a0007c0064t0002 a0009c0062t0002 a0011c0041t0001 a0011c0053t0001 a0012c0068t0002 a0014c0065t0001 a0015c0057t0001 a0017c0054t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0173 others(81): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0173 a0001c0001t0001g0229 a0001c0003t0001g0262 a0001c0003t0002g0217 a0001c0025t0001g0001 a0002c0002t0002g0298 a0002c0005t0001g0149 a0002c0010t0001g0176 a0002c0047t0001g0141 a0003c0006t0001g0072 a0003c0006t0001g0103 a0003c0006t0001g0146 a0003c0006t0001g0157 a0003c0006t0001g0163 a0003c0006t0001g0185 a0003c0006t0001g0196 a0003c0006t0001g0202 a0003c0006t0001g0233 a0003c0006t0002g0036 a0003c0006t0002g0210 a0003c0006t0002g0215 a0003c0006t0002g0226 a0003c0006t0002g0310 a0003c0007t0001g0067 a0003c0007t0001g0084 a0003c0007t0001g0094 a0003c0007t0001g0193 a0003c0007t0001g0198 a0003c0007t0002g0250 a0003c0007t0002g0270 a0003c0007t0002g0273 a0003c0007t0002g0276 a0003c0007t0003g0264 a0003c0007t0018g0127 a0003c0012t0001g0263 a0003c0012t0002g0152 a0003c0012t0002g0292 a0003c0012t0002g0305 a0003c0012t0010g0212 a0003c0013t0001g0003 a0003c0013t0001g0038 a0003c0013t0001g0039 a0003c0013t0001g0051 a0003c0029t0001g0315 a0003c0030t0001g0284 a0003c0038t0001g0018 a0003c0056t0003g0104 a0003c0069t0002g0200 a0004c0011t0001g0071 a0004c0011t0001g0101 a0004c0011t0001g0107 a0004c0011t0001g0180 a0004c0011t0017g0129 a0004c0014t0001g0078 a0004c0014t0001g0199 a0004c0014t0002g0023 a0004c0014t0003g0255 a0004c0017t0001g0144 a0004c0017t0002g0022 a0004c0017t0003g0131 a0004c0024t0001g0049 a0004c0024t0001g0052 a0004c0026t0002g0118 a0004c0026t0003g0256 a0004c0049t0001g0122 a0004c0050t0002g0249 a0005c0020t0001g0257 a0005c0021t0001g0091 a0005c0021t0002g0024 a0005c0021t0002g0235 a0005c0031t0001g0314 a0005c0059t0002g0258 a0005c0060t0001g0306 a0006c0052t0002g0244 a0007c0064t0002g0260 a0009c0062t0002g0272 a0011c0041t0001g0251 a0011c0053t0001g0166 a0012c0068t0002g0291 a0014c0065t0001g0140 a0015c0057t0001g0170 a0017c0054t0001g0099	84	314	0.2675	-18	c.473 others(35): Show c.4737+451_4737+468delTAAGTACCTAGGGGTGTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11009007	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	11	0.0909	-18	c.212 others(37): Show c.2123+1001_2123+1018delTTTTTTTTTTTTTTTTTT		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	14/34					INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0008 a0001c0031t0001g0008	1	191	0.0052	-18	c.491 others(35): Show c.4912-559_4912-542delATATATATATATATATAT		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34					INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01361.hp2 HG01515.hp1 others(16): Show HG00558.hp1 HG01361.hp2 HG01515.hp1 HG01975.hp2 HG04199.hp1 NA18939.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA19001.hp2 NA19067.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0108 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0286 a0001c0001t0007g0162	19	44	0.4318	-18	c.987 others(35): Show c.987-2907_987-2890delTTTTTTTTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(79): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0004c0005 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001 a0004c0005t0009 a0005c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0147 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0217 a0001c0001t0005g0188 a0001c0001t0006g0107 a0001c0001t0007g0210 a0001c0001t0008g0205 a0001c0004t0001g0075 a0001c0007t0001g0056 a0002c0003t0001g0207 a0004c0005t0009g0079 a0005c0010t0001g0005	82	88	0.9318	-18	c.304 others(37): Show c.3043+9050_3043+9067delTCTCTCTCTCTCTCTCTC		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47633779	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	116	0.0086	-18	c.264 others(37): Show c.2646+1393_2646+1410delGTGTGTGTGTGTGTGTGT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47636786	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	125	0.0080	-18	c.237 others(35): Show c.2377-668_2377-651delCACACACACACACACATA		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27						chr3	TogoVar
SMC6_chr2_17658812_17758810	17739879	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0009 a0003c0002t0009	a0003c0002t0009g0231 a0003c0002t0009g0231	1	32	0.0313	-18	c.239 others(35): Show c.239-1571_239-1554delGTGTGTGTGTGTGTGTGT		SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27						chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01175.hp2 HG00423.hp1 HG00609.hp1 HG01175.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0001c0005 a0007c0029 a0001c0004 a0001c0005 a0007c0029	a0001c0004t0001 a0001c0005t0028 a0007c0029t0001 a0001c0004t0001 a0001c0005t0028 a0007c0029t0001	a0001c0004t0001g0073 a0001c0005t0028g0261 a0007c0029t0001g0047 a0001c0004t0001g0073 a0001c0005t0028g0261 a0007c0029t0001g0047	3	277	0.0108	-18	c.226 others(35): Show c.2260+971_2260+988delTATATATATATATATATA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515988	GATATATA others(11): Show GATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0075 a0001c0007t0003g0075	1	203	0.0049	-18	c.-79 others(27): Show c.-797_-780delATATATATATATATATAT		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					643		chr3	TogoVar
SMCO4_chr11_93473472_93548391	93478713	GCACACAC others(11): Show GCACACACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG03195.hp2 others(1): Show HG01099.hp1 HG01243.hp2 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0297 a0001c0001t0011g0332 others(1): Show a0001c0001t0011g0134 a0001c0001t0011g0297 a0001c0001t0011g0332 a0001c0001t0011g0343	4	14	0.2857	-18	c.27 others(27): Show c.279_*296delTGTGTGTGTGTGTGTGTG		SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	3/3				279		chr11	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02155.hp1 HG02622.hp2 others(8): Show HG01978.hp1 HG02155.hp1 HG02622.hp2 HG03490.hp1 HG04228.hp1 NA18941.hp2 NA18960.hp1 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0007 a0001c0002t0022 a0001c0002t0023	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0151 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0006g0066 a0001c0001t0006g0149 a0001c0002t0007g0170 a0001c0002t0022g0055 a0001c0002t0023g0049	11	128	0.0859	-18	c.-15 others(39): Show c.-153-15044_-153-15027delTATATATATATATATATA		SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2						chr11	TogoVar
SMCP_chr1_152873322_152890047	152881825	AGGACCTT others(11): Show AGGACCTTCTTCACATAGT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	416	0.0024	-18	c.-20 others(35): Show c.-20-2575_-20-2558delACCTTCTTCACATAGTGG		SMCP	ENSG00000163206.6	transcript	ENST00000368765.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG1_chr16_18799860_18931408	18812597	TACACATA others(11): Show TACACATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0090 a0001c0008t0001g0090	1	256	0.0039	-18	c.106 others(37): Show c.10622-488_10622-471delGTATGTATATATATGTGT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	60/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp2 HG01981.hp1 others(4): Show HG00280.hp2 HG01928.hp2 HG01981.hp1 HG02004.hp2 HG02293.hp1 HG02683.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 others(4): Show a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0263 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0292	7	71	0.0986	-18	c.562 others(35): Show c.5623+130_5623+147delTTTTTTTTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0178 a0002c0005t0003g0178	1	18	0.0556	-18	c.822 others(35): Show c.822+1592_822+1609delTTTTTTTTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18919657	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0180 a0001c0010t0003g0180	1	84	0.0119	-18	c.92+ others(33): Show c.92+6275_92+6292delGTGTGTGTGTGTGTGTGT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62						chr16	TogoVar
SMG6_chr17_2054843_2308785	2121583	CTGTCTGT others(11): Show CTGTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG06807.hp2 HG02451.hp2 HG02615.hp2 HG06807.hp2	a0005 a0009 a0005 a0009	a0005c0006 a0009c0008 a0005c0006 a0009c0008	a0005c0006t0004 a0009c0008t0003 a0005c0006t0004 a0009c0008t0003	a0005c0006t0004g0101 a0005c0006t0004g0102 a0009c0008t0003g0223 a0005c0006t0004g0101 a0005c0006t0004g0102 a0009c0008t0003g0223	3	161	0.0186	-18	c.335 others(39): Show c.3358-35700_3358-35683delCACACACACACACAGACA		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG00738.hp2 others(21): Show HG00621.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01517.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02717.hp2 HG02922.hp1 HG03239.hp2 NA18975.hp1 NA19011.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0003 a0005 a0006 others(4): Show a0003 a0005 a0006 a0008 a0015 a0016 a0025	a0003c0003 a0005c0006 a0005c0013 others(6): Show a0003c0003 a0005c0006 a0005c0013 a0006c0005 a0006c0032 a0008c0009 a0015c0027 a0016c0014 a0025c0019	a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 others(13): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0003c0003t0019 a0005c0006t0004 a0005c0013t0001 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0032t0007 a0008c0009t0001 a0015c0027t0005 a0016c0014t0012 a0025c0019t0002	a0003c0003t0001g0172 a0003c0003t0001g0175 a0003c0003t0002g0174 others(21): Show a0003c0003t0001g0172 a0003c0003t0001g0175 a0003c0003t0002g0174 a0003c0003t0002g0180 a0003c0003t0015g0179 a0003c0003t0019g0173 a0005c0006t0004g0021 a0005c0006t0004g0027 a0005c0006t0004g0103 a0005c0006t0004g0104 a0005c0013t0001g0007 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0032t0007g0123 a0008c0009t0001g0188 a0015c0027t0005g0221 a0016c0014t0012g0135 a0025c0019t0002g0227	24	36	0.6667	-18	c.335 others(39): Show c.3358-35704_3358-35687delCACACACACACACACACA		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2183745	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02040.hp2 others(11): Show HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA19011.hp1 NA20752.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0006 a0006c0005 others(2): Show a0001c0001 a0005c0006 a0006c0005 a0006c0025 a0006c0032	a0001c0001t0006 a0005c0006t0004 a0006c0005t0004 others(5): Show a0001c0001t0006 a0005c0006t0004 a0006c0005t0004 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007	a0001c0001t0006g0131 a0005c0006t0004g0060 a0006c0005t0004g0119 others(11): Show a0001c0001t0006g0131 a0005c0006t0004g0060 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123	14	34	0.4118	-18	c.315 others(37): Show c.3155+2900_3155+2917delGTGTGTGTGTGTGTGTGT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2230204	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	276	0.0036	-18	c.286 others(37): Show c.2869+6270_2869+6287delCTTTTTTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2230319	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG02015.hp2 others(15): Show HG00621.hp1 HG00642.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02258.hp2 HG02698.hp2 HG02976.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA18975.hp1 NA19011.hp1 NA20752.hp2	a0001 a0006 a0012 others(3): Show a0001 a0006 a0012 a0015 a0016 a0018	a0001c0020 a0006c0005 a0006c0025 others(5): Show a0001c0020 a0006c0005 a0006c0025 a0006c0032 a0012c0021 a0015c0027 a0016c0014 a0018c0016	a0001c0020t0004 a0006c0005t0004 a0006c0005t0006 others(9): Show a0001c0020t0004 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007 a0012c0021t0012 a0015c0027t0005 a0016c0014t0012 a0018c0016t0001	a0001c0020t0004g0129 a0006c0005t0004g0119 a0006c0005t0004g0121 others(15): Show a0001c0020t0004g0129 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123 a0012c0021t0012g0220 a0015c0027t0005g0221 a0016c0014t0012g0135 a0018c0016t0001g0002	18	276	0.0652	-18	c.286 others(37): Show c.2869+6155_2869+6172delCTTTTTTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18						chr17	TogoVar
SMG7_chr1_183467499_183559191	183542925	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02717.hp1 HG02896.hp2 others(1): Show HG02698.hp2 HG02717.hp1 HG02896.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0020 a0001c0001t0006g0203 a0001c0001t0009g0020 others(1): Show a0001c0001t0006g0020 a0001c0001t0006g0203 a0001c0001t0009g0020 a0001c0001t0009g0179	4	159	0.0252	-18	c.184 others(35): Show c.1842+425_1842+442delATGTGTGTGTGTGTGTGT		SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG8_chr17_59205035_59220230	59215369	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	5	0.2000	-18	c.36 others(27): Show c.368_*385delTTTTTTTTTTTTTTTTTT		SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding					140		chr17	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	51	0.0196	-18	c.40 others(29): Show c.4058_*4075delTTTTTTTTTTTTTTTTTT		SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding					3830		chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0100 a0001c0002t0028g0100	1	73	0.0137	-18	c.67 others(29): Show c.6748_*6765delGTGTGTGTGTGTGTGTGT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding					3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43757302	AGGGCCTG others(11): Show AGGGCCTGGATTCAAACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	317	0.0032	-18	c.-26 others(29): Show c.-2673_-2656delGGGTTTGAATCCAGGCCC		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding					2341		chr19	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	26	0.0385	-18	c.-50 others(29): Show c.-5014_-4997delTTTTTTTTTTTTTTTTTT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding					4534		chr6	TogoVar
SMIM15_chr5_61152704_61167468	61157990	TACACACA others(11): Show TACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0042 a0001c0001t0036g0042	1	58	0.0172	-18	c.19 others(29): Show c.1939_*1956delGTGTGTGTGTGTGTGTGT		SMIM15	ENSG00000188725.8	transcript	ENST00000339020.8	protein_coding	3/3				1939		chr5	TogoVar
SMIM35_chr11_117998634_118091963	118051825	GATACTAA others(11): Show GATACTAATACTAATACTA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp1 HG02071.hp1 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0028 a0001c0001t0008 a0002c0002t0028	a0001c0001t0008g0334 a0002c0002t0028g0119 a0001c0001t0008g0334 a0002c0002t0028g0119	2	179	0.0112	-18	c.7+3 others(33): Show c.7+34908_7+34925delTAGTATTAGTATTAGTAT		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4						chr11	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19012.hp1 NA19063.hp1 others(1): Show NA18982.hp2 NA19012.hp1 NA19063.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0233 a0001c0001t0001g0270 a0001c0001t0001g0271 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0270 a0001c0001t0001g0271 a0002c0002t0002g0272	4	68	0.0588	-18	c.7+1 others(33): Show c.7+18873_7+18890delATATATATATATATATAT		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4						chr11	TogoVar
SMIM36_chr17_55444856_55516452	55508431	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02145.hp1 others(9): Show HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0003t0004 a0001c0001t0004 a0001c0001t0010 a0001c0003t0004	a0001c0001t0004g0149 a0001c0001t0004g0220 a0001c0001t0004g0221 others(9): Show a0001c0001t0004g0149 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0228 a0001c0003t0004g0027 a0001c0003t0004g0028	12	46	0.2609	-18	c.17 others(37): Show c.174+2430_*174+2447delATATATATATATATATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMKR1_chr7_129497531_129517918	129502265	CCCGCCCC others(11): Show CCCGCCCCCTCGCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	420	0.0024	-18	c.-55 others(27): Show c.-559_-542delCCGCCCCCTCGCCCCGCG		SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding					265		chr7	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02630.hp2 others(6): Show HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 NA18949.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0027	a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0004g0261 a0001c0001t0008g0057 a0001c0001t0027g0036	9	14	0.6429	-18	c.-97 others(27): Show c.-979_-962delTGTGTGTGTGTGTGTGTG		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding					716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961272	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01081.hp2 others(31): Show HG00140.hp2 HG00438.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01346.hp2 HG01516.hp1 HG02055.hp2 HG02148.hp2 HG02738.hp2 HG02922.hp1 HG03017.hp2 HG03516.hp2 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19066.hp1 NA19068.hp2 NA19084.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0002t0028 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0004t0006	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0002t0001g0117 others(31): Show a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0002t0001g0117 a0001c0002t0001g0137 a0001c0002t0001g0257 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0129 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0002g0164 a0001c0002t0002g0169 a0001c0002t0002g0175 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0200 a0001c0002t0002g0212 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0025g0240 a0001c0002t0028g0223 a0001c0003t0004g0120 a0001c0004t0001g0265 a0001c0004t0004g0105 a0001c0004t0006g0201 a0001c0004t0006g0202	34	103	0.3301	-18	c.378 others(35): Show c.378+7770_378+7787delATATATATATATATATAT		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168513464	AATACACA others(11): Show AATACACACACACACATAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(66): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02572.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03195.hp2 HG03225.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19012.hp1 NA19030.hp1 NA19065.hp2 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0009 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0004t0005 a0003c0009t0003 a0005c0006t0012	a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0091 others(66): Show a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0015g0163 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0180 a0001c0002t0007g0016 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0003t0001g0155 a0001c0004t0005g0051 a0003c0009t0003g0086 a0005c0006t0012g0018	69	178	0.3876	-18	c.256 others(35): Show c.256+3394_256+3411delTACATACACACACACACA		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168637903	TGCTGTAT others(11): Show TGCTGTATGCTGAGCTGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00741.hp2 others(24): Show HG00280.hp2 HG00423.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02738.hp2 HG02896.hp1 HG02970.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03834.hp1 HG06807.hp1 NA18941.hp1 NA18944.hp1 NA18950.hp2 NA18983.hp2 NA19079.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0004c0012t0010	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(24): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0003g0085 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0004c0012t0010g0076	27	178	0.1517	-18	c.908 others(37): Show c.908-12773_908-12756delTATGCTGAGCTGGAGCTG		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168640171	CTTGGTGT others(11): Show CTTGGTGTTGGTGTTGGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG02630.hp2 others(8): Show HG01167.hp1 HG01884.hp2 HG02630.hp2 HG02809.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0005 a0001c0007t0005 a0001c0008t0002	a0001c0001t0001g0125 a0001c0001t0006g0128 a0001c0001t0006g0160 others(8): Show a0001c0001t0001g0125 a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0002t0002g0003 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0063 a0001c0002t0005g0069 a0001c0007t0005g0050 a0001c0008t0002g0042	11	74	0.1486	-18	c.908 others(37): Show c.908-10494_908-10477delGTGTTGGTGTTGGTGTTG		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar

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