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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP35_chr12_123453139_123471936 | 123468358 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0004others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(53): Show |
98 | 186 | 0.5269 | 1 | c.*20 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1423 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123471072 | C | CT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0011 a0001c0001t0003g0102 a0001c0001t0009g0112 others(2): Show |
5 | 186 | 0.0269 | 1 | c.*47 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4137 | chr12 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31255828 | C | CA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02132.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0113 a0001c0001t0001g0115 others(22): Show |
26 | 354 | 0.0735 | 1 | c.*42 others(12): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 3739 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31259108 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(118): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(98): Show |
121 | 354 | 0.3418 | 1 | c.*96 others(10): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 459 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31259755 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02132.hp2 HG02148.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0006 | a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 others(6): Show |
9 | 354 | 0.0254 | 1 | c.*31 others(5): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 10/10 | 316 | chr1 | TogoVar | ||||||
SNRNP40_chr1_31254568_31301788 | 31259841 | A | AG | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0008g0271 others(2): Show |
5 | 354 | 0.0141 | 1 | c.*23 others(10): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 10/10 | 230 | chr1 | TogoVar | ||||||
SNRNP40_chr1_31254568_31301788 | 31260863 | C | CA | intron_variant | MODIFIER | HG01496.hp1 HG02135.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0100 others(4): Show |
7 | 354 | 0.0198 | 1 | c.102 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 9/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31262521 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01109.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0078 others(27): Show |
32 | 354 | 0.0904 | 1 | c.921 others(8): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31262696 | T | TA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00642.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 others(47): Show |
52 | 354 | 0.1469 | 1 | c.921 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31263004 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0235 a0001c0001t0001g0287 a0001c0001t0002g0016 others(101): Show |
108 | 354 | 0.3051 | 1 | c.921 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31263341 | A | AT | intron_variant | MODIFIER | HG01517.hp1 HG02109.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0091 others(3): Show |
6 | 354 | 0.0170 | 1 | c.921 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31263913 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(184): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0121 a0001c0001t0001g0235 a0001c0001t0002g0016 others(175): Show |
187 | 354 | 0.5283 | 1 | c.921 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31268286 | G | GT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00642.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0110 others(53): Show |
59 | 354 | 0.1667 | 1 | c.859 others(8): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31271658 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(207): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0235 a0001c0001t0001g0287 a0001c0001t0002g0017 others(199): Show |
210 | 354 | 0.5932 | 1 | c.655 others(8): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31271668 | T | TG | intron_variant | MODIFIER | HG00423.hp2 HG02129.hp2 HG02132.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0194 a0001c0001t0002g0195 others(14): Show |
18 | 354 | 0.0509 | 1 | c.655 others(8): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31273640 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(160): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0120 a0001c0001t0001g0235 a0001c0001t0001g0287 others(154): Show |
163 | 354 | 0.4605 | 1 | c.655 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31274645 | T | TA | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0001g0126 others(34): Show |
38 | 354 | 0.1073 | 1 | c.655 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31279746 | C | CA | intron_variant | MODIFIER | HG00741.hp1 HG01928.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0002g0230 a0001c0001t0002g0234 others(2): Show |
5 | 354 | 0.0141 | 1 | c.654 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31280113 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0109 a0001c0001t0001g0287 others(45): Show |
49 | 354 | 0.1384 | 1 | c.654 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31280170 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp2 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0051 others(78): Show |
85 | 354 | 0.2401 | 1 | c.654 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31280767 | G | GT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0002g0164 others(83): Show |
89 | 354 | 0.2514 | 1 | c.654 others(8): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31286026 | T | TG | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG02071.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 a0001c0001t0004g0292 a0001c0001t0004g0293 others(25): Show |
29 | 354 | 0.0819 | 1 | c.531 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31295350 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0167 a0001c0001t0001g0235 a0001c0001t0001g0287 others(103): Show |
110 | 354 | 0.3107 | 1 | c.141 others(9): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31298377 | G | GT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01433.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0051 a0001c0001t0002g0166 a0001c0001t0003g0035 others(10): Show |
13 | 354 | 0.0367 | 1 | c.-16 others(6): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 1590 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31298387 | G | GT | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02486.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0093 others(10): Show |
13 | 354 | 0.0367 | 1 | c.-16 others(6): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 1600 | chr1 | TogoVar | |||||||
SNRNP40_chr1_31254568_31301788 | 31300933 | C | CA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG02071.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0175 a0001c0001t0004g0020 a0001c0001t0004g0292 others(25): Show |
29 | 354 | 0.0819 | 1 | c.-41 others(6): Show |
SNRNP40 | ENSG00000060688.13 | transcript | ENST00000263694.9 | protein_coding | 4146 | chr1 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7588609 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(62): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0002t0035a0002c0003t0003others(4): Show | a0001c0001t0004g0002 a0001c0002t0035g0042 a0002c0003t0003g0004 others(23): Show |
65 | 426 | 0.1526 | 1 | c.-16 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 1588 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7592372 | A | AT | intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 HG01993.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0003 | a0001c0001t0004g0081 a0002c0003t0003g0015 a0002c0003t0003g0108 others(1): Show |
9 | 426 | 0.0211 | 1 | c.157 others(9): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRNP48_chr6_7585198_7616967 | 7594414 | T | TA | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0036 | a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0036g0029 |
4 | 426 | 0.0094 | 1 | c.331 others(8): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRNP48_chr6_7585198_7616967 | 7595379 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(60): Show |
a0001a0002a0006 | a0001c0004a0001c0005a0002c0003others(1): Show | a0001c0004t0005a0001c0004t0007a0001c0004t0014others(9): Show | a0001c0004t0005g0019 a0001c0004t0005g0040 a0001c0004t0005g0041 others(27): Show |
63 | 426 | 0.1479 | 1 | c.406 others(8): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRNP48_chr6_7585198_7616967 | 7595386 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(36): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0016a0002c0003t0039 | a0002c0003t0003g0004 a0002c0003t0003g0007 a0002c0003t0003g0018 others(8): Show |
39 | 426 | 0.0916 | 1 | c.406 others(16): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7596265 | C | CA | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0019 a0001c0004t0005g0040 a0001c0004t0005g0041 others(3): Show |
12 | 426 | 0.0282 | 1 | c.406 others(9): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRNP48_chr6_7585198_7616967 | 7604089 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(38): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(104): Show |
294 | 426 | 0.6901 | 1 | c.718 others(9): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRNP48_chr6_7585198_7616967 | 7609685 | A | AT | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0006a0001c0005t0015a0001c0005t0023others(1): Show | a0001c0005t0006g0006 a0001c0005t0015g0036 a0001c0005t0023g0035 others(1): Show |
14 | 426 | 0.0329 | 1 | c.*81 others(5): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 9/9 | 820 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNRNP48_chr6_7585198_7616967 | 7612992 | G | GT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(37): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0012a0001c0002t0036a0001c0004t0005others(8): Show | a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0036g0029 others(16): Show |
40 | 426 | 0.0939 | 1 | c.*41 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 1026 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7613452 | C | CA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01952.hp2 HG02148.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 3 | 426 | 0.0070 | 1 | c.*45 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 1486 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7614775 | C | CA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(213): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(73): Show |
216 | 426 | 0.5070 | 1 | c.*59 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 2809 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7615500 | G | GA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(37): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0012a0001c0002t0036a0001c0004t0005others(8): Show | a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0036g0029 others(16): Show |
40 | 426 | 0.0939 | 1 | c.*66 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 3534 | chr6 | TogoVar | |||||||
SNRNP48_chr6_7585198_7616967 | 7616365 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(90): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0028a0001c0002t0002others(15): Show | a0001c0001t0001g0002 a0001c0001t0028g0003 a0001c0002t0002g0001 others(38): Show |
93 | 426 | 0.2183 | 1 | c.*74 others(12): Show |
SNRNP48 | ENSG00000168566.13 | transcript | ENST00000342415.6 | protein_coding | 4399 | chr6 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49083789 | C | CT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0057 others(12): Show |
16 | 366 | 0.0437 | 1 | c.-18 others(12): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 1661 | chr19 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49084413 | G | GC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00733.hp2 others(54): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
57 | 366 | 0.1557 | 1 | c.-12 others(12): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 1037 | chr19 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49086483 | A | AC | frameshift_variant | HIGH | NA18967.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0276 | 1 | 366 | 0.0027 | 1 | c.73d others(3): Show |
p.Leu others(4): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/10 | 270/1671 | 74/1314 | 25/437 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SNRNP70_chr19_49080451_49113604 | 49086871 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02896.hp2 others(10): Show |
a0001a0008 | a0001c0001a0001c0006a0008c0013 | a0001c0001t0001a0001c0006t0001a0008c0013t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(10): Show |
13 | 366 | 0.0355 | 1 | c.147 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49086881 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(141): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(116): Show |
144 | 366 | 0.3934 | 1 | c.147 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49087177 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(158): Show |
206 | 366 | 0.5628 | 1 | c.147 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49088199 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp2 others(44): Show |
a0001a0005a0007 | a0001c0001a0001c0008a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0092 others(36): Show |
47 | 366 | 0.1284 | 1 | c.147 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49088498 | C | CT | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG02148.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0010a0004c0009 | a0001c0001t0001a0001c0001t0002a0003c0010t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0218 a0001c0001t0001g0219 others(6): Show |
9 | 366 | 0.0246 | 1 | c.148 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49089656 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(69): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0054 others(55): Show |
72 | 366 | 0.1967 | 1 | c.148 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49091372 | T | TA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0199 others(3): Show |
6 | 366 | 0.0164 | 1 | c.265 others(8): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRNP70_chr19_49080451_49113604 | 49093034 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(172): Show |
211 | 366 | 0.5765 | 1 | c.265 others(9): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |