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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRPK2_chr7_105111374_105393921 | 105233091 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00733.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0003a0003c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(32): Show |
35 | 282 | 0.1241 | -12 | c.72- others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105245034 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 282 | 0.0036 | -12 | c.72- others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105250339 | TAAACAAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(3): Show |
6 | 282 | 0.0213 | -12 | c.72- others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105280947 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp1 HG03017.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0118 a0001c0001t0001g0223 a0001c0001t0001g0224 others(10): Show |
13 | 282 | 0.0461 | -12 | c.72- others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105292497 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
2 | 282 | 0.0071 | -12 | c.72- others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105323967 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18942.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0137 |
3 | 282 | 0.0106 | -12 | c.71+ others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105331308 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 282 | 0.0036 | -12 | c.71+ others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105353503 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 282 | 0.0036 | -12 | c.71+ others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105369125 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp2 others(62): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(62): Show |
65 | 282 | 0.2305 | -12 | c.71+ others(29): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK3_chrX_153776041_153790730 | 153776701 | TGGGGCGG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(135): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(30): Show |
138 | 307 | 0.4495 | -12 | c.-43 others(23): Show |
SRPK3 | ENSG00000184343.11 | transcript | ENST00000370101.8 | protein_coding | 4339 | chrX | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24640519 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0283 others(7): Show |
11 | 352 | 0.0313 | -12 | c.-28 others(23): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24642597 | GAGAGCCC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0003 | a0001c0001t0003g0011 a0001c0001t0003g0216 a0001c0010t0003g0011 |
4 | 352 | 0.0114 | -12 | c.-72 others(21): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 704 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24652029 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0046 a0001c0001t0002g0200 a0001c0001t0004g0047 others(4): Show |
8 | 352 | 0.0227 | -12 | c.726 others(27): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24663878 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01168.hp2 HG01169.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0211 others(12): Show |
17 | 352 | 0.0483 | -12 | c.162 others(31): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76205004 | CTCTTGAT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0278 |
3 | 324 | 0.0093 | -12 | c.-40 others(29): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SRRM3_chr7_76196896_76292287 | 76211816 | CTATTATT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02055.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0017a0006c0012others(1): Show | a0001c0001t0001a0002c0017t0003a0006c0012t0001others(1): Show | a0001c0001t0001g0075 a0002c0017t0003g0324 a0006c0012t0001g0322 others(2): Show |
5 | 324 | 0.0154 | -12 | c.-40 others(29): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76226565 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01433.hp2 others(44): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0007others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0293 a0002c0002t0001g0270 a0002c0002t0001g0299 others(44): Show |
47 | 324 | 0.1451 | -12 | c.-39 others(29): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76229872 | TAGCTTAG others(5): Show |
T | intron_variant | MODIFIER | HG04199.hp2 HG04204.hp1 NA18990.hp1 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0282 a0002c0006t0001g0281 a0002c0006t0001g0283 others(1): Show |
4 | 324 | 0.0124 | -12 | c.-39 others(29): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76258713 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 others(2): Show |
5 | 324 | 0.0154 | -12 | c.336 others(29): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 118998268 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0255 | 1 | 328 | 0.0031 | -12 | c.131 others(31): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119075428 | ATGATGAT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(137): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0153 others(136): Show |
140 | 328 | 0.4268 | -12 | c.132 others(31): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119075770 | GTGGTGAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0008others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(149): Show | a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0153 others(246): Show |
250 | 328 | 0.7622 | -12 | c.132 others(31): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119114660 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0121a0002c0002t0053 | a0001c0001t0121g0213 a0002c0002t0053g0214 |
2 | 328 | 0.0061 | -12 | c.365 others(27): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122272 | AAGGCAGG others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0232 | 1 | 328 | 0.0031 | -12 | c.515 others(27): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122280 | AAGGCAGG others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0243 | 1 | 328 | 0.0031 | -12 | c.515 others(27): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119129963 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02132.hp1 others(1): Show |
a0001a0003a0008 | a0001c0008a0003c0003a0008c0013 | a0001c0008t0044a0003c0003t0006a0008c0013t0063 | a0001c0008t0044g0132 a0001c0008t0044g0210 a0003c0003t0006g0180 others(1): Show |
4 | 328 | 0.0122 | -12 | c.615 others(27): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119137587 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01952.hp1 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0024a0001c0001t0074others(10): Show | a0001c0001t0004g0102 a0001c0001t0024g0285 a0001c0001t0074g0254 others(13): Show |
16 | 328 | 0.0488 | -12 | c.771 others(29): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119158967 | TTGTGTGT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG01975.hp1 NA18946.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0029a0001c0001t0048a0001c0001t0091others(2): Show | a0001c0001t0029g0109 a0001c0001t0029g0138 a0001c0001t0048g0076 others(7): Show |
10 | 328 | 0.0305 | -12 | c.*22 others(23): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 2209 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRRM4_chr12_118976541_119168051 | 119160289 | GTCTCTCT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0014others(4): Show | a0001c0001t0077a0001c0001t0133a0002c0002t0005others(30): Show | a0001c0001t0077g0301 a0001c0001t0133g0120 a0002c0002t0005g0066 others(59): Show |
62 | 328 | 0.1890 | -12 | c.*35 others(23): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 13/13 | 3514 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRRM4_chr12_118976541_119168051 | 119163278 | ATATGTGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0079 | a0003c0003t0079g0028 | 1 | 328 | 0.0031 | -12 | c.*64 others(23): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 228 | chr12 | TogoVar | |||||||
SRSF10_chr1_23959347_23985327 | 23971181 | TCTAGATT others(5): Show |
T | disruptive_inframe_deletion | MODERATE | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0057 | 1 | 384 | 0.0026 | -12 | c.738 others(19): Show |
p.Ser others(13): Show |
SRSF10 | ENSG00000188529.15 | transcript | ENST00000492112.3 | protein_coding | 6/6 | 821/7656 | 738/789 | 246/262 | chr1 | TogoVar | |||
SRSF11_chr1_70216380_70258052 | 70243336 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 338 | 0.0030 | -12 | c.801 others(29): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRSF11_chr1_70216380_70258052 | 70254510 | CGTGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 338 | 0.0030 | -12 | c.*37 others(23): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 1459 | chr1 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89093907 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 376 | 0.0027 | -12 | c.*46 others(23): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 2051 | chr6 | TogoVar | |||||||
SRSF12_chr6_89090959_89123071 | 89099444 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp2 NA18942.hp2 NA18955.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 a0001c0001t0005g0124 a0001c0001t0005g0129 others(3): Show |
7 | 376 | 0.0186 | -12 | c.417 others(27): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
SRSF6_chr20_43452896_43469243 | 43461334 | GTTGTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0096a0001c0002t0083 | a0001c0001t0096g0036 a0001c0002t0083g0002 |
2 | 464 | 0.0043 | -12 | c.*27 others(21): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 274 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRSF6_chr20_43452896_43469243 | 43461337 | GTTTTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0054 | a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0006 others(1): Show |
11 | 464 | 0.0237 | -12 | c.*30 others(21): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 6/6 | 300 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRSF6_chr20_43452896_43469243 | 43466904 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(8): Show | a0001c0001t0002g0013 a0001c0001t0003g0003 a0001c0001t0003g0031 others(14): Show |
70 | 464 | 0.1509 | -12 | c.*58 others(23): Show |
SRSF6 | ENSG00000124193.16 | transcript | ENST00000244020.5 | protein_coding | 2662 | chr20 | TogoVar | |||||||
SRSF9_chr12_120456672_120474748 | 120469294 | CGTGAGGG others(5): Show |
C | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 444 | 0.0023 | -12 | c.188 others(27): Show |
SRSF9 | ENSG00000111786.10 | transcript | ENST00000229390.8 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62150633 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02055.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0025others(3): Show | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 others(13): Show |
18 | 316 | 0.0570 | -12 | c.69+ others(27): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26019789 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 318 | 0.0031 | -12 | c.123 others(31): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 10/10 | chr18 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26060771 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 318 | 0.0031 | -12 | c.232 others(29): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SS18_chr18_26011253_26095613 | 26065800 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01069.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show |
76 | 318 | 0.2390 | -12 | c.232 others(29): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81440198 | CAACAACA others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 others(1): Show |
4 | 206 | 0.0194 | -12 | c.952 others(27): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 14/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445136 | TTTTATAT others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0199 | 1 | 206 | 0.0049 | -12 | c.802 others(29): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445166 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0110 | 1 | 206 | 0.0049 | -12 | c.802 others(29): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 206 | 0.0049 | -12 | c.432 others(29): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81493251 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0034a0001c0001t0036others(2): Show | a0001c0001t0004g0038 a0001c0001t0034g0141 a0001c0001t0036g0039 others(8): Show |
11 | 206 | 0.0534 | -12 | c.373 others(29): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501212 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0136 | 1 | 206 | 0.0049 | -12 | c.373 others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501258 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 206 | 0.0049 | -12 | c.373 others(31): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar |