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
SACS_chr13_23323830_23438702	23420034	A A	ATGTTCAT others(11): Show ATGTTCATCTGGGACCTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00621.hp1 others(42): Show HG00099.hp1 HG00408.hp1 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01346.hp1 HG01515.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG02735.hp2 HG03239.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18959.hp1 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp2 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0013 a0015 a0016 a0033 a0034	a0001c0002 a0001c0004 a0001c0006 others(10): Show a0001c0002 a0001c0004 a0001c0006 a0001c0064 a0002c0001 a0002c0024 a0003c0005 a0004c0007 a0013c0025 a0015c0065 a0016c0027 a0033c0060 a0034c0062	a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 others(13): Show a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 a0001c0006t0021 a0001c0064t0001 a0002c0001t0001 a0002c0001t0008 a0002c0024t0001 a0003c0005t0001 a0003c0005t0008 a0004c0007t0001 a0013c0025t0001 a0015c0065t0001 a0016c0027t0001 a0033c0060t0001 a0034c0062t0001	a0001c0002t0002g0219 a0001c0002t0002g0232 a0001c0002t0002g0233 others(42): Show a0001c0002t0002g0219 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0256 a0001c0002t0002g0359 a0001c0004t0002g0255 a0001c0006t0001g0208 a0001c0006t0001g0227 a0001c0006t0001g0236 a0001c0006t0001g0257 a0001c0006t0001g0265 a0001c0006t0001g0329 a0001c0006t0001g0339 a0001c0006t0021g0210 a0001c0064t0001g0341 a0002c0001t0001g0173 a0002c0001t0001g0212 a0002c0001t0001g0250 a0002c0001t0008g0009 a0002c0024t0001g0196 a0002c0024t0001g0202 a0003c0005t0001g0032 a0003c0005t0001g0155 a0003c0005t0001g0199 a0003c0005t0001g0209 a0003c0005t0001g0211 a0003c0005t0001g0213 a0003c0005t0001g0228 a0003c0005t0001g0238 a0003c0005t0001g0251 a0003c0005t0001g0301 a0003c0005t0001g0312 a0003c0005t0001g0354 a0003c0005t0008g0008 a0004c0007t0001g0105 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0159 a0004c0007t0001g0188 a0013c0025t0001g0216 a0013c0025t0001g0217 a0015c0065t0001g0225 a0016c0027t0001g0215 a0033c0060t0001g0231 a0034c0062t0001g0235	45	378	0.1191	18	c.-50 others(37): Show c.-501-8312_-501-8295dupCCAGGTCCCAGATGAACA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47145511	C C	CAGGCTCA others(11): Show CAGGCTCATCTTCAAGGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	380	0.0026	18	c.210 others(35): Show c.210+1908_210+1925dupGGCTCATCTTCAAGGTGA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18985.hp2 NA19007.hp2 NA18983.hp2 NA18985.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0102	3	380	0.0079	18	c.733 others(37): Show c.733+12574_733+12575insTGTGTGTGTGCGCGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18968.hp2 HG02293.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0100 a0001c0001t0001g0103	2	380	0.0053	18	c.733 others(37): Show c.733+12574_733+12575insTGTGTGTGTGTGCGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6347883	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	420	0.0024	18	c.186 others(33): Show c.186+672_186+689dupTAATAATAATAATAATAA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAG_chr2_233302816_233352055	233303848	T T	TTGAGACG others(11): Show TTGAGACGGTCTCGTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	368	0.0054	18	c.-42 others(29): Show c.-4203_-4202insTGAGACGGTCTCGTTCTG	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding		3967		chr2	TogoVar
SALL1_chr16_51130982_51156270	51147780	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	374	0.0027	18	c.76+ others(33): Show c.76+3368_76+3385dupGTGTGTGTGTGTGTGTGT	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2			chr16	TogoVar
SAMD10_chr20_63969116_63984642	63971411	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01891.hp2 others(2): Show HG01123.hp2 HG01358.hp2 HG01891.hp2 HG01934.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0002t0008 a0001c0003t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0005	a0001c0002t0007g0017 a0001c0002t0008g0050 a0001c0002t0008g0052 others(2): Show a0001c0002t0007g0017 a0001c0002t0008g0050 a0001c0002t0008g0052 a0001c0002t0008g0053 a0001c0003t0005g0043	5	342	0.0146	18	c.40 others(29): Show c.4098_*4099insAAAAAAAAAAAAAAAAAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		2704		chr20	TogoVar
SAMD12_chr8_118372984_118626963	118406890	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02055.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0154 a0001c0001t0002g0027 a0001c0001t0002g0154	2	188	0.0106	18	c.323 others(37): Show c.323-27208_323-27191dupCACACACACACACACACA	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3			chr8	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCAC others(11): Show GCACGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0289 a0001c0001t0025g0289	1	398	0.0025	18	c.43+ others(31): Show c.43+145_43+146insTGTGTGTGTGTGTGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCGC others(11): Show GCACGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG01928.hp1 others(6): Show HG01192.hp2 HG01496.hp1 HG01928.hp1 HG01993.hp1 NA18960.hp2 NA18973.hp1 NA18984.hp1 NA19005.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0014 a0001c0001t0003g0129 a0001c0001t0003g0130 others(3): Show a0001c0001t0003g0014 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0009g0030 a0001c0001t0009g0144	9	398	0.0226	18	c.43+ others(31): Show c.43+145_43+146insTGTGTGTGCGCGCGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01192.hp1 others(17): Show HG00280.hp2 HG00597.hp1 HG01192.hp1 HG01496.hp2 HG01516.hp2 HG02451.hp2 HG02683.hp1 HG02717.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp1 NA18949.hp2 NA18970.hp1 NA18975.hp2 NA19064.hp1 NA19076.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0028 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0192 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0001g0309	20	338	0.0592	18	c.102 others(37): Show c.1023+1160_1023+1177dupATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54639801	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	262	0.0038	18	c.197 others(37): Show c.197-62252_197-62235dupACACACACACACACACAC	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG02630.hp1 others(8): Show HG02055.hp1 HG02083.hp1 HG02630.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA19012.hp2 NA19056.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0026 a0001c0001t0028 a0001c0001t0052 a0001c0001t0077 a0001c0001t0082 a0001c0006t0042 a0001c0011t0002	a0001c0001t0002g0148 a0001c0001t0004g0095 a0001c0001t0008g0005 others(8): Show a0001c0001t0002g0148 a0001c0001t0004g0095 a0001c0001t0008g0005 a0001c0001t0013g0190 a0001c0001t0026g0240 a0001c0001t0028g0157 a0001c0001t0052g0121 a0001c0001t0077g0224 a0001c0001t0082g0218 a0001c0006t0042g0023 a0001c0011t0002g0197	11	262	0.0420	18	c.197 others(37): Show c.197-26692_197-26675dupAAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	262	0.0038	18	c.197 others(37): Show c.197-23563_197-23546dupGTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724012	G G	GGAAGGAA others(11): Show GGAAGGAAGGAAGAAGGAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	262	0.0038	18	c.716 others(37): Show c.716-13000_716-12999insAAGGAAGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724016	G G	GGAAGGAA others(11): Show GGAAGGAAGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	262	0.0038	18	c.716 others(37): Show c.716-13000_716-12999insAAGGAAGGAAGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54795970	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0243 a0001c0001t0078g0243	1	262	0.0038	18	c.70 others(29): Show c.7026_*7027insTGTGTGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		2659		chr14	TogoVar
SAMD5_chr6_147503690_147575021	147526819	G G	GACAGTAG others(11): Show GACAGTAGTTACCTGGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01433.hp1 others(17): Show HG00323.hp2 HG01074.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02155.hp1 HG02818.hp2 HG03139.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp2 NA18965.hp1 NA18987.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0002t0004 a0001c0002t0008 a0001c0002t0058 a0001c0002t0061 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0018	a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0190 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0190 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0337 a0001c0001t0029g0144 a0001c0002t0004g0127 a0001c0002t0008g0150 a0001c0002t0058g0126 a0001c0002t0061g0125 a0002c0003t0001g0016 a0002c0003t0001g0021 a0002c0003t0001g0032 a0002c0003t0002g0017 a0002c0003t0003g0024 a0002c0003t0018g0004 a0002c0003t0018g0015	20	364	0.0550	18	c.459 others(37): Show c.459+17433_459+17434insCAGTAGTTACCTGGTATA	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD5_chr6_147503690_147575021	147551812	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG03579.hp2 others(1): Show HG01081.hp1 HG01109.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0106 a0001c0002t0004 a0001c0002t0042 others(1): Show a0001c0001t0106 a0001c0002t0004 a0001c0002t0042 a0001c0002t0046	a0001c0001t0106g0058 a0001c0002t0004g0083 a0001c0002t0042g0131 others(1): Show a0001c0001t0106g0058 a0001c0002t0004g0083 a0001c0002t0042g0131 a0001c0002t0046g0178	4	364	0.0110	18	c.460 others(37): Show c.460-12574_460-12557dupATATATATATATATATAT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD7_chr3_169906572_169944175	169940066	C C	CCAGCGAC others(11): Show CCAGCGACGAAACTGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	18	c.15 others(29): Show c.1560_*1561insCAGCGACGAAACTGAGTG	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		892		chr3	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 NA18990.hp1 others(1): Show HG02717.hp2 HG03540.hp1 NA18990.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 others(1): Show a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0020g0144	4	324	0.0124	18	c.-15 others(35): Show c.-15-2160_-15-2143dupTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36925531	T T	TTTAAATT others(11): Show TTTAAATTGAAAACGTCTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0315 a0001c0001t0010g0315	1	340	0.0029	18	c.696 others(35): Show c.696+1650_696+1651insCAGACGTTTTCAATTTAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	6/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947310	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	340	0.0029	18	c.209 others(33): Show c.209-524_209-507dupACACACACACACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36947413	T T	TGTGTGTG others(11): Show TGTGTGTGATTTGGAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02559.hp2 others(2): Show HG01243.hp2 HG02486.hp1 HG02559.hp2 HG02735.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0002g0098 a0001c0001t0002g0099 others(2): Show a0001c0001t0001g0021 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0005g0101	5	340	0.0147	18	c.209 others(33): Show c.209-610_209-609insCTCTTCCAAATCACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMM50_chr22_43950442_44001529	43959507	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18971.hp1 NA19062.hp1 HG01496.hp1 NA18971.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0036 a0001c0004t0001g0116 a0001c0004t0001g0117	3	378	0.0079	18	c.22- others(33): Show c.22-3760_22-3743dupACACACACACACACACAC	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAP130_chr2_127936222_128033059	127947764	C C	CTGTGTGT others(11): Show CTGTGTGTGTGAGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01069.hp2 others(22): Show HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp2 NA18948.hp1 NA18967.hp1 NA19057.hp2 NA19066.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0095 others(22): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0268 a0001c0001t0001g0303 a0001c0001t0001g0311 a0001c0001t0002g0096 a0001c0001t0002g0190	25	350	0.0714	18	c.279 others(37): Show c.2797+2104_2797+2105insCACACACTCACACACACA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19010.hp2 NA19065.hp2 HG01975.hp2 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0037 a0001c0002t0001g0051 a0001c0002t0001g0031 a0001c0002t0001g0037 a0001c0002t0001g0051	3	350	0.0086	18	c.870 others(35): Show c.870-3521_870-3504dupAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP18_chr13_21135119_21154097	21149104	T T	TGTCTGCC others(11): Show TGTCTGCCCTGGTTGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	426	0.0024	18	c.17 others(29): Show c.1762_*1763insGTCTGCCCTGGTTGCCTC	SAP18	ENSG00000150459.13	transcript	ENST00000382533.9	protein_coding		8		chr13	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	18	c.-89 others(27): Show c.-891_-890insTGTGTGTGTGTGTGTGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0074 a0001c0001t0072 a0001c0001t0074	a0001c0001t0072g0135 a0001c0001t0074g0136 a0001c0001t0072g0135 a0001c0001t0074g0136	2	420	0.0048	18	c.29 others(29): Show c.2911_*2928dupAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03654.hp1 NA18960.hp1 HG01069.hp2 HG03654.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0039 a0001c0001t0002g0038 a0001c0001t0009g0013 a0001c0001t0001g0039 a0001c0001t0002g0038 a0001c0001t0009g0013	3	322	0.0093	18	c.244 others(31): Show c.244+32_244+49dupTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SAR1B_chr5_134596149_134637828	134618530	T T	TAGATTAA others(11): Show TAGATTAACTTGTCTTTAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	322	0.0031	18	c.178 others(35): Show c.178+2385_178+2402dupTTAAAGACAAGTTAATCT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6			chr5	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp1 NA19058.hp1 NA18964.hp1 NA18980.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0228 a0001c0001t0002g0046 a0001c0001t0002g0228	3	360	0.0083	18	c.995 others(33): Show c.995-649_995-648insAAAAAAAAAATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG02300.hp1 others(2): Show HG00280.hp2 HG00558.hp1 HG02300.hp1 NA18959.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0044 a0001c0001t0002g0014 a0001c0001t0002g0044	5	360	0.0139	18	c.995 others(33): Show c.995-649_995-648insAAAAAAAAAAAATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669171	T T	TCCCCTCA others(11): Show TCCCCTCATCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA20129.hp1 HG02109.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0036 a0001c0001 a0003c0003 a0007c0036	a0001c0001t0001 a0003c0003t0002 a0007c0036t0002 a0001c0001t0001 a0003c0003t0002 a0007c0036t0002	a0001c0001t0001g0258 a0003c0003t0002g0240 a0007c0036t0002g0056 a0001c0001t0001g0258 a0003c0003t0002g0240 a0007c0036t0002g0056	3	262	0.0115	18	c.249 others(37): Show c.2495+1412_2495+1413insGAGAGGGAGGATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669203	T T	TCCCCTCA others(11): Show TCCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0030 a0001c0051 a0001c0030 a0001c0051	a0001c0030t0002 a0001c0051t0002 a0001c0030t0002 a0001c0051t0002	a0001c0030t0002g0231 a0001c0051t0002g0032 a0001c0030t0002g0231 a0001c0051t0002g0032	2	262	0.0076	18	c.249 others(37): Show c.2495+1380_2495+1381insGAGAGGGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01884.hp2 others(5): Show HG01123.hp1 HG01243.hp2 HG01884.hp2 HG02257.hp2 HG03209.hp2 HG03471.hp2 NA18522.hp2 NA20752.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0009 a0015	a0002c0015 a0003c0003 a0003c0009 others(3): Show a0002c0015 a0003c0003 a0003c0009 a0006c0038 a0009c0068 a0015c0065	a0002c0015t0001 a0003c0003t0002 a0003c0009t0002 others(3): Show a0002c0015t0001 a0003c0003t0002 a0003c0009t0002 a0006c0038t0001 a0009c0068t0002 a0015c0065t0001	a0002c0015t0001g0115 a0003c0003t0002g0242 a0003c0009t0002g0252 others(5): Show a0002c0015t0001g0115 a0003c0003t0002g0242 a0003c0009t0002g0252 a0003c0009t0002g0253 a0003c0009t0002g0257 a0006c0038t0001g0090 a0009c0068t0002g0057 a0015c0065t0001g0205	8	262	0.0305	18	c.915 others(35): Show c.915+3379_915+3396dupATTATTATTATTATTATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(11): Show ATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03710.hp1 NA18943.hp2 others(1): Show HG00558.hp1 HG03710.hp1 NA18943.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0002c0004t0002g0015	4	262	0.0153	18	c.915 others(35): Show c.915+3370_915+3371insCTATTATTATTATTATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	276	0.0036	18	c.502 others(37): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(72): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19077.hp2 NA19081.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(66): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0365 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0002g0177 a0001c0004t0001g0007	75	402	0.1866	18	c.137 others(35): Show c.137-4706_137-4689dupTATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109219280	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19002.hp2 NA18969.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	402	0.0050	18	c.137 others(35): Show c.137-4689_137-4688insTATATATACATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109219335	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	402	0.0025	18	c.137 others(35): Show c.137-4641_137-4624dupATATATATATATATATAT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109226701	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(26): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG02683.hp2 HG02723.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 NA18906.hp2 NA18978.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0201 a0001c0001t0001g0237 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0291 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0177 a0001c0001t0002g0242	29	402	0.0721	18	c.208 others(35): Show c.208-1650_208-1649insTATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00741.hp1 others(17): Show HG00558.hp1 HG00597.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01884.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02523.hp1 HG02622.hp2 HG02738.hp1 HG03491.hp2 HG04199.hp1 NA18970.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0028 others(7): Show a0001c0001 a0001c0003 a0001c0028 a0002c0002 a0002c0005 a0002c0010 a0002c0031 a0003c0006 a0003c0008 a0007c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0032 a0001c0003t0001 a0001c0003t0005 a0001c0003t0014 a0001c0028t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0005t0002 a0002c0010t0003 a0002c0031t0004 a0003c0006t0002 a0003c0008t0004 a0007c0030t0001	a0001c0001t0001g0309 a0001c0001t0002g0092 a0001c0001t0002g0264 others(17): Show a0001c0001t0001g0309 a0001c0001t0002g0092 a0001c0001t0002g0264 a0001c0001t0010g0260 a0001c0001t0032g0252 a0001c0003t0001g0054 a0001c0003t0005g0272 a0001c0003t0005g0314 a0001c0003t0014g0139 a0001c0028t0001g0043 a0002c0002t0001g0298 a0002c0002t0003g0099 a0002c0002t0004g0158 a0002c0005t0002g0111 a0002c0010t0003g0049 a0002c0010t0003g0261 a0002c0031t0004g0287 a0003c0006t0002g0075 a0003c0008t0004g0079 a0007c0030t0001g0228	20	322	0.0621	18	c.157 others(37): Show c.157-21356_157-21339dupACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	322	0.0031	18	c.157 others(37): Show c.157-21363_157-21362insGCACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0275 a0002c0002t0008g0275	1	322	0.0031	18	c.157 others(37): Show c.157-21363_157-21362insGCGCACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148379937	A A	AGTCCTGG others(11): Show AGTCCTGGATATCGTGTGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0178 a0002c0002t0003g0178	1	322	0.0031	18	c.157 others(37): Show c.157-10196_157-10179dupGTCCTGGATATCGTGTGC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446103	T T	TTTTTTTT others(11): Show TTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG02040.hp2 others(6): Show HG00323.hp1 HG00558.hp1 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02148.hp2 HG02622.hp2 HG03491.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0003t0001 a0001c0003t0014 others(5): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0004t0002	a0001c0001t0002g0021 a0001c0003t0001g0054 a0001c0003t0014g0139 others(6): Show a0001c0001t0002g0021 a0001c0003t0001g0054 a0001c0003t0014g0139 a0002c0002t0001g0045 a0002c0002t0002g0141 a0002c0002t0003g0103 a0002c0002t0004g0158 a0002c0002t0004g0226 a0002c0004t0002g0134	9	322	0.0280	18	c.386 others(35): Show c.386+5704_386+5705insCTTTTTTTTCTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148448115	A A	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02083.hp1 HG02647.hp1 others(6): Show HG02074.hp1 HG02083.hp1 HG02647.hp1 NA18747.hp2 NA18950.hp2 NA18954.hp2 NA18979.hp2 NA18984.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0007t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0007t0005 a0002c0002t0001 a0002c0002t0003 a0002c0005t0006	a0001c0001t0001g0289 a0001c0007t0005g0276 a0002c0002t0001g0032 others(6): Show a0001c0001t0001g0289 a0001c0007t0005g0276 a0002c0002t0001g0032 a0002c0002t0001g0037 a0002c0002t0001g0254 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0299 a0002c0005t0006g0015	9	322	0.0280	18	c.386 others(35): Show c.386+7709_386+7710insAGTGTGTGTGTGTGTGTG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

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