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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0277 a0001c0001t0003g0027 a0001c0001t0003g0220 others(3): Show |
6 | 352 | 0.0171 | 20 | c.-28 others(31): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24652029 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01261.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0152 a0001c0001t0001g0153 others(6): Show |
10 | 352 | 0.0284 | 20 | c.726 others(35): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119117596 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02886.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0019a0003c0003t0006 | a0001c0001t0019g0252 a0003c0003t0006g0180 |
2 | 328 | 0.0061 | 20 | c.437 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122292 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0070 | 1 | 328 | 0.0031 | 20 | c.515 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122292 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0009 | 1 | 328 | 0.0031 | 20 | c.515 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122292 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 |
a0001a0011 | a0001c0001a0011c0024 | a0001c0001t0061a0011c0024t0128 | a0001c0001t0061g0257 a0011c0024t0128g0194 |
2 | 328 | 0.0061 | 20 | c.515 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119122296 | A | AAGGCAGG others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG02976.hp2 |
a0001a0008 | a0001c0011a0008c0023 | a0001c0011t0018a0001c0011t0068a0008c0023t0062 | a0001c0011t0018g0220 a0001c0011t0068g0225 a0008c0023t0062g0004 |
3 | 328 | 0.0092 | 20 | c.515 others(35): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119136470 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02922.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0108a0003c0003t0027a0003c0003t0080others(4): Show | a0001c0001t0108g0133 a0003c0003t0027g0041 a0003c0003t0027g0045 others(6): Show |
9 | 328 | 0.0274 | 20 | c.771 others(37): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 20 | c.-27 others(31): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02109.hp1 others(3): Show |
a0004a0005 | a0004c0004a0005c0006a0005c0019 | a0004c0004t0001a0005c0006t0001a0005c0019t0001 | a0004c0004t0001g0000 a0005c0006t0001g0000 a0005c0019t0001g0000 |
6 | 416 | 0.0144 | 20 | c.-27 others(31): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRSF11_chr1_70216380_70258052 | 70254510 | C | CGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 338 | 0.0030 | 20 | c.*37 others(31): Show |
SRSF11 | ENSG00000116754.14 | transcript | ENST00000370949.2 | protein_coding | 1459 | chr1 | TogoVar | |||||||
SRSF3_chr6_36589362_36610600 | 36596574 | C | CGGGGGGG others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03130.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0045 | a0001c0001t0002g0193 a0001c0001t0003g0088 a0001c0001t0045g0192 |
3 | 382 | 0.0079 | 20 | c.-2- others(33): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36597097 | C | CTTTAGAT others(13): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0201 | 1 | 382 | 0.0026 | 20 | c.206 others(35): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF4_chr1_29142743_29186900 | 29178353 | C | CTTCTTTT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0321 | 1 | 368 | 0.0027 | 20 | c.107 others(37): Show |
SRSF4 | ENSG00000116350.18 | transcript | ENST00000373795.7 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02602.hp2 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0026a0001c0001t0056a0002c0009t0026 | a0001c0001t0026g0000 a0001c0001t0056g0000 a0002c0009t0026g0000 |
4 | 402 | 0.0100 | 20 | c.*23 others(31): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0013a0002c0004t0012 | a0001c0001t0002g0030 a0001c0001t0013g0038 a0001c0001t0013g0117 others(1): Show |
6 | 422 | 0.0142 | 20 | c.*21 others(31): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62143431 | C | CCGGCGAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0246 |
3 | 316 | 0.0095 | 20 | c.-39 others(29): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 337 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62143443 | G | GGCGTCAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 316 | 0.0032 | 20 | c.-37 others(29): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 325 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014 | a0001c0002t0004g0285 a0001c0002t0014g0286 |
2 | 316 | 0.0063 | 20 | c.69+ others(35): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26065800 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(71): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0007a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0036 others(71): Show |
74 | 318 | 0.2327 | 20 | c.232 others(37): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445138 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0188 | 1 | 206 | 0.0049 | 20 | c.802 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0172 | 1 | 206 | 0.0049 | 20 | c.432 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0060 | a0001c0001t0003g0014 a0001c0001t0005g0159 a0001c0001t0060g0109 |
3 | 206 | 0.0146 | 20 | c.283 others(39): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54235448 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0142 | 1 | 280 | 0.0036 | 20 | c.927 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54237648 | A | AGTGATGC others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0002t0003g0238 |
3 | 280 | 0.0107 | 20 | c.927 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54237648 | A | AGTGATGC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 280 | 0.0036 | 20 | c.927 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(34): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0001g0131 others(34): Show |
37 | 280 | 0.1321 | 20 | c.277 others(39): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01069.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0042 a0001c0001t0004g0107 a0001c0001t0007g0177 others(15): Show |
18 | 280 | 0.0643 | 20 | c.276 others(39): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54396193 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0266 | 1 | 280 | 0.0036 | 20 | c.276 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP4_chr19_18414398_18439562 | 18435614 | C | CGACGCCC others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 302 | 0.0033 | 20 | c.*13 others(31): Show |
SSBP4 | ENSG00000130511.16 | transcript | ENST00000270061.12 | protein_coding | 1053 | chr19 | TogoVar | |||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 426 | 0.0024 | 20 | c.-9- others(33): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SSC4D_chr7_76384337_76414697 | 76394836 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01433.hp2 others(7): Show |
a0001a0008 | a0001c0007a0008c0012 | a0001c0007t0001a0008c0012t0001 | a0001c0007t0001g0011 a0001c0007t0001g0157 a0001c0007t0001g0194 others(5): Show |
10 | 388 | 0.0258 | 20 | c.946 others(35): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0158 | 1 | 388 | 0.0026 | 20 | c.-66 others(35): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495216 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0027 | a0027c0034 | a0027c0034t0002 | a0027c0034t0002g0037 | 1 | 412 | 0.0024 | 20 | c.138 others(37): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02129.hp1 NA18943.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0362 a0004c0004t0001g0368 a0004c0004t0001g0369 others(2): Show |
5 | 412 | 0.0121 | 20 | c.138 others(37): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02922.hp1 |
a0002a0013 | a0002c0003a0013c0036 | a0002c0003t0002a0013c0036t0001 | a0002c0003t0002g0131 a0013c0036t0001g0135 |
2 | 412 | 0.0049 | 20 | c.138 others(37): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSH1_chr12_108773191_108862583 | 108859335 | T | TCCTTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0308 | 1 | 332 | 0.0030 | 20 | c.-18 others(31): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 1753 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108859891 | A | AGGAGGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0007 a0001c0001t0006g0131 a0001c0001t0006g0132 others(1): Show |
4 | 332 | 0.0121 | 20 | c.-24 others(31): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2309 | chr12 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0067 |
2 | 232 | 0.0086 | 20 | c.189 others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0231 | 1 | 232 | 0.0043 | 20 | c.189 others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29833824 | T | TTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 a0001c0001t0003g0100 |
2 | 232 | 0.0086 | 20 | c.144 others(39): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 2/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 232 | 0.0043 | 20 | c.63+ others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0020 a0001c0001t0034g0231 |
2 | 232 | 0.0086 | 20 | c.63+ others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26201022 | T | TATATATT others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0179 | 1 | 384 | 0.0026 | 20 | c.279 others(37): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SSPN_chr12_26190573_26239777 | 26233355 | T | TATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02922.hp2 NA19030.hp1 |
a0002a0004 | a0002c0003a0004c0007 | a0002c0003t0024a0004c0007t0032 | a0002c0003t0024g0010 a0002c0003t0024g0202 a0004c0007t0032g0303 |
3 | 384 | 0.0078 | 20 | c.*22 others(31): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3/3 | 2281 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSTR2_chr17_73160010_73181633 | 73164123 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0003 | 1 | 454 | 0.0022 | 20 | c.-12 others(31): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 886 | chr17 | TogoVar | |||||||
SSTR2_chr17_73160010_73181633 | 73171921 | C | CAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01981.hp1 HG02015.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0156a0001c0001t0157 | a0001c0001t0008g0006 a0001c0001t0008g0034 a0001c0001t0008g0051 others(3): Show |
10 | 454 | 0.0220 | 20 | c.*15 others(31): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 2/2 | 1529 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SSU72L6_chr7_124471317_124482664 | 124479016 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0000 a0001c0001t0008g0000 |
22 | 466 | 0.0472 | 20 | c.*20 others(31): Show |
SSU72L6 | ENSG00000230268.4 | transcript | ENST00000473520.2 | protein_coding | 1353 | chr7 | TogoVar | |||||||
SSX4B_chrX_48397082_48416960 | 48414270 | G | GGAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 180 | 0.0056 | 20 | c.-24 others(31): Show |
SSX4B | ENSG00000269791.6 | transcript | ENST00000595235.6 | protein_coding | 2311 | chrX | TogoVar | |||||||
SSX4_chrX_48378539_48398347 | 48381395 | C | CTTCCCTT others(13): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 104 | 0.0096 | 20 | c.-21 others(31): Show |
SSX4 | ENSG00000268009.6 | transcript | ENST00000595689.3 | protein_coding | 2143 | chrX | TogoVar |