view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP70_chr19_49080451_49113604 | 49093368 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(278): Show |
365 | 366 | 0.9973 | 1 | c.265 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49093678 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0036 others(44): Show |
63 | 366 | 0.1721 | 1 | c.265 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49093693 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp2 others(42): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0125 others(33): Show |
45 | 366 | 0.1230 | 1 | c.265 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49095536 | C | CT | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp1 HG02572.hp2 others(7): Show |
a0001a0004a0006 | a0001c0001a0004c0009a0006c0012 | a0001c0001t0001a0001c0001t0002a0004c0009t0002others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0160 a0001c0001t0001g0161 others(7): Show |
10 | 366 | 0.0273 | 1 | c.266 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49095975 | C | CA | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01358.hp2 others(19): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0008a0004c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0063 others(19): Show |
22 | 366 | 0.0601 | 1 | c.266 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49096077 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG02523.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0006c0012t0002 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0081 others(9): Show |
14 | 366 | 0.0383 | 1 | c.266 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49099567 | C | CA | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00741.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 others(14): Show |
17 | 366 | 0.0465 | 1 | c.393 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49100806 | C | CA | intron_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0061 others(6): Show |
10 | 366 | 0.0273 | 1 | c.394 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49105729 | C | CA | intron_variant | MODIFIER | HG00597.hp1 HG01070.hp1 HG01943.hp2 others(20): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0048 others(19): Show |
23 | 366 | 0.0628 | 1 | c.577 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49107844 | C | CG | frameshift_variant | HIGH | NA18987.hp2 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0165 | 1 | 366 | 0.0027 | 1 | c.718 others(4): Show |
p.Glu others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 915/1671 | 719/1314 | 240/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49108015 | C | CG | frameshift_variant | HIGH | NA19072.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0174 | 1 | 366 | 0.0027 | 1 | c.889 others(4): Show |
p.Glu others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 1086/1671 | 890/1314 | 297/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49108065 | C | CG | frameshift_variant | HIGH | NA19077.hp1 | a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0026 | 1 | 366 | 0.0027 | 1 | c.938 others(4): Show |
p.Gly others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 1135/1671 | 939/1314 | 313/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49108213 | C | CG | frameshift_variant | HIGH | HG02572.hp2 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0231 | 1 | 366 | 0.0027 | 1 | c.108 others(5): Show |
p.Glu others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 1282/1671 | 1086/1314 | 362/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49108213 | C | CT | frameshift_variant | HIGH | HG02559.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0041 | 1 | 366 | 0.0027 | 1 | c.108 others(10): Show |
p.Arg others(5): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 10/10 | 1281/1671 | 1085/1314 | 362/437 | chr19 | TogoVar | |||
SNRNP70_chr19_49080451_49113604 | 49109981 | A | AC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(104): Show |
a0001a0005a0010 | a0001c0001a0001c0002a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(84): Show |
107 | 366 | 0.2924 | 1 | c.*15 others(12): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 1378 | chr19 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49111041 | C | CA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0119 a0001c0001t0001g0160 others(5): Show |
8 | 366 | 0.0219 | 1 | c.*25 others(12): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2438 | chr19 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49113601 | T | TA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02109.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0264 |
3 | 366 | 0.0082 | 1 | c.*51 others(12): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4998 | chr19 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101278550 | T | TG | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03225.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0121 others(2): Show |
5 | 442 | 0.0113 | 1 | c.*31 others(12): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 2959 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101280856 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(231): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(128): Show |
234 | 442 | 0.5294 | 1 | c.*86 others(10): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 653 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101282666 | C | CA | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 others(1): Show |
4 | 442 | 0.0091 | 1 | c.710 others(16): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101283393 | T | TA | intron_variant | MODIFIER | HG00673.hp1 HG03225.hp2 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098 a0001c0001t0001g0151 a0001c0001t0001g0171 others(4): Show |
7 | 442 | 0.0158 | 1 | c.709 others(9): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101284507 | C | CT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01243.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0031 a0001c0001t0001g0103 a0001c0001t0001g0110 others(8): Show |
19 | 442 | 0.0430 | 1 | c.709 others(8): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101286252 | A | AC | frameshift_variant | HIGH | NA19072.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0135 | 1 | 442 | 0.0023 | 1 | c.500 others(4): Show |
p.Ala others(5): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 6/9 | 570/1052 | 500/768 | 167/255 | chr15 | TogoVar | |||
SNRPA1_chr15_101276510_101300248 | 101288244 | A | AT | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01358.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 others(11): Show |
25 | 442 | 0.0566 | 1 | c.310 others(8): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG02630.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0158 others(3): Show |
6 | 442 | 0.0136 | 1 | c.309 others(9): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101290574 | A | AT | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02145.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0035 others(13): Show |
22 | 442 | 0.0498 | 1 | c.309 others(9): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101290740 | A | AT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00735.hp1 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0024 others(35): Show |
54 | 442 | 0.1222 | 1 | c.309 others(9): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101291519 | C | CT | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01099.hp1 others(70): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0029 others(35): Show |
73 | 442 | 0.1652 | 1 | c.309 others(8): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101292427 | A | AT | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 |
4 | 442 | 0.0091 | 1 | c.231 others(8): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 2/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101293118 | G | GC | frameshift_variant | HIGH | NA19072.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0135 | 1 | 442 | 0.0023 | 1 | c.136 others(4): Show |
p.Ala others(4): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 2/9 | 206/1052 | 136/768 | 46/255 | chr15 | TogoVar | |||
SNRPA1_chr15_101276510_101300248 | 101295983 | C | CT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0002t0001a0002c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(11): Show |
21 | 442 | 0.0475 | 1 | c.-80 others(5): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 736 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101296528 | A | AT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02015.hp2 HG02602.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(3): Show |
7 | 442 | 0.0158 | 1 | c.-13 others(6): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 1281 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101296655 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01192.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(19): Show |
29 | 442 | 0.0656 | 1 | c.-14 others(6): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 1408 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101299183 | C | CA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01123.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(20): Show |
31 | 442 | 0.0701 | 1 | c.-40 others(6): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3936 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101299800 | C | CG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show |
85 | 442 | 0.1923 | 1 | c.-46 others(6): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 4553 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40746405 | G | GT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(69): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0061 others(43): Show |
72 | 412 | 0.1748 | 1 | c.-50 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 4797 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40748984 | C | CT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(16): Show |
21 | 412 | 0.0510 | 1 | c.-24 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2218 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40749404 | A | AC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(87): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(71): Show |
90 | 412 | 0.2185 | 1 | c.-20 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1798 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40752579 | C | CA | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02027.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(12): Show |
16 | 412 | 0.0388 | 1 | c.73+ others(8): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40754100 | G | GT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01070.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0070 others(36): Show |
41 | 412 | 0.0995 | 1 | c.73+ others(8): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40755257 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0027 others(45): Show |
52 | 412 | 0.1262 | 1 | c.74- others(8): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40756269 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG02896.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0017 a0001c0002t0002g0050 a0001c0002t0002g0051 others(9): Show |
13 | 412 | 0.0316 | 1 | c.74- others(8): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40756596 | C | CA | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01175.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0085 others(36): Show |
41 | 412 | 0.0995 | 1 | c.74- others(7): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40759204 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00741.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0091 others(5): Show |
10 | 412 | 0.0243 | 1 | c.247 others(8): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40761126 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00639.hp1 others(65): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0054 others(55): Show |
68 | 412 | 0.1651 | 1 | c.426 others(9): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40761458 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(100): Show |
139 | 412 | 0.3374 | 1 | c.427 others(9): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPA_chr19_40746203_40770389 | 40765041 | C | CG | frameshift_variant | HIGH | NA19068.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0255 | 1 | 412 | 0.0024 | 1 | c.726 others(4): Show |
p.Arg others(5): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 6/6 | 933/1277 | 727/849 | 243/282 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRPA_chr19_40746203_40770389 | 40766357 | C | CA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02717.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0002 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0054 others(3): Show |
7 | 412 | 0.0170 | 1 | c.*11 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 969 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40766508 | C | CA | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01257.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(27): Show |
30 | 412 | 0.0728 | 1 | c.*13 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1120 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40767493 | C | CA | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01346.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0175 a0001c0001t0003g0183 a0001c0001t0003g0235 others(6): Show |
9 | 412 | 0.0218 | 1 | c.*23 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2105 | chr19 | TogoVar |