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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 242524 | CCTTCCTC others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 132 | 0.0076 | -50 | c.613 others(67): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287291 | TCTCTCCA others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 132 | 0.0076 | -50 | c.352 others(67): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPL18A_chr19_17854910_17868319 | 17864928 | TCCCAGGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -50 | c.*16 others(61): Show |
RPL18A | ENSG00000105640.13 | transcript | ENST00000222247.10 | protein_coding | 1610 | chr19 | TogoVar | |||||||
RPS19_chr19_41855255_41877925 | 41865217 | TAGCCAGG others(43): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 388 | 0.0026 | -50 | c.173 others(67): Show |
RPS19 | ENSG00000105372.8 | transcript | ENST00000598742.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
RPS5_chr19_58382269_58399804 | 58390225 | TCTCTGCC others(43): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 430 | 0.0023 | -50 | c.108 others(67): Show |
RPS5 | ENSG00000083845.9 | transcript | ENST00000196551.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044342 | AGAAAGAA others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01433.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(15): Show | a0001c0001t0003g0079 a0001c0001t0003g0124 a0001c0001t0010g0078 others(16): Show |
19 | 304 | 0.0625 | -50 | c.103 others(69): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0103 | 1 | 79 | 0.0127 | -50 | c.472 others(67): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80811830 | GCCTCTCC others(43): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0032others(2): Show | a0001c0001t0015a0001c0003t0001a0001c0003t0014others(3): Show | a0001c0001t0015g0088 a0001c0003t0001g0190 a0001c0003t0014g0105 others(3): Show |
6 | 193 | 0.0311 | -50 | c.891 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864272 | ATGACGGC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0006a0001c0021a0001c0026others(2): Show | a0001c0006t0082a0001c0021t0018a0001c0021t0079others(3): Show | a0001c0006t0082g0015 a0001c0021t0018g0014 a0001c0021t0079g0006 others(3): Show |
6 | 194 | 0.0309 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864322 | GTGACGGC others(43): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01070.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0015a0001c0001t0019a0001c0002t0007others(19): Show | a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0002t0007g0136 others(20): Show |
23 | 188 | 0.1223 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864341 | TACAGATT others(43): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0009a0001c0012a0001c0020others(1): Show | a0001c0009t0078a0001c0012t0003a0001c0020t0093others(1): Show | a0001c0009t0078g0021 a0001c0012t0003g0121 a0001c0012t0003g0123 others(2): Show |
5 | 175 | 0.0286 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80896427 | GCCAACAC others(43): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0007a0001c0011a0001c0012others(4): Show | a0001c0007t0069a0001c0007t0084a0001c0007t0090others(7): Show | a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 others(7): Show |
10 | 76 | 0.1316 | -50 | c.240 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 20/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRP1B_chr21_43654560_43701079 | 43700527 | TTCCCAGC others(43): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -50 | c.*71 others(61): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 4449 | chr21 | TogoVar | |||||||
RSPRY1_chr16_57181329_57245469 | 57200953 | GGGGGGGG others(43): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 355 | 0.0028 | -50 | c.-15 others(69): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16645916 | ATATGTGT others(43): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 184 | 0.0054 | -50 | c.731 others(69): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1967123 | TGCAGGCC others(43): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03516.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0031 | a0001c0001t0017g0211 a0001c0001t0031g0202 a0001c0001t0031g0376 |
3 | 382 | 0.0079 | -50 | c.14- others(67): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866010 | GTGTGTGG others(43): Show |
G | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 364 | 0.0027 | -50 | c.-37 others(61): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3718 | chr2 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197732136 | CTGACTGT others(43): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0046 | 1 | 184 | 0.0054 | -50 | c.65+ others(65): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68406102 | AGTATAAC others(43): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0187 a0001c0001t0011g0188 |
2 | 274 | 0.0073 | -50 | c.4+1 others(63): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626698 | GTGTCATA others(43): Show |
G | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0037 | 1 | 197 | 0.0051 | -50 | c.-21 others(61): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1699 | chr7 | TogoVar | |||||||
RUNX3_chr1_24894511_24935276 | 24907798 | CAAACCTC others(43): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 384 | 0.0026 | -50 | c.545 others(65): Show |
RUNX3 | ENSG00000020633.19 | transcript | ENST00000308873.11 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38507465 | CGGGGAAC others(43): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0068 | a0001c0068t0002 | a0001c0068t0002g0206 | 1 | 216 | 0.0046 | -50 | c.881 others(67): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237127518 | GCCCCCAC others(43): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0064 | 1 | 100 | 0.0100 | -50 | c.48+ others(67): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47164501 | TCCTCTTC others(43): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 378 | 0.0026 | -50 | c.628 others(67): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
SAG_chr2_233302816_233352055 | 233307107 | ACCTGGGA others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01891.hp2 HG02145.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0074 a0001c0001t0001g0077 others(26): Show |
31 | 366 | 0.0847 | -50 | c.-94 others(59): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 708 | chr2 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 919772 | ACCTAGGC others(43): Show |
A | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0306 | 1 | 432 | 0.0023 | -50 | c.-46 others(61): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4150 | chr1 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668782 | TCCCTCAC others(43): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0216 | 1 | 246 | 0.0041 | -50 | c.249 others(69): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148387568 | CTTTCTTT others(43): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0004 | a0002c0004t0031 | a0002c0004t0031g0259 | 1 | 320 | 0.0031 | -50 | c.157 others(67): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78392021 | GAGAGAGG others(43): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp2 others(50): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0011others(6): Show | a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 others(49): Show |
53 | 124 | 0.4274 | -50 | c.135 others(67): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0002 | a0002c0010a0002c0013 | a0002c0010t0016a0002c0013t0011 | a0002c0010t0016g0036 a0002c0013t0011g0256 |
2 | 11 | 0.1818 | -50 | c.*63 others(61): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 191841 | AACCCTAA others(43): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01192.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 2 | 354 | 0.0056 | -50 | c.-12 others(61): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1236 | chr11 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38963374 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0002a0001c0024a0003c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0002g0204 others(5): Show |
8 | 310 | 0.0258 | -50 | c.-27 others(69): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165200708 | CAGTTTAA others(43): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0070 | 1 | 312 | 0.0032 | -50 | c.-24 others(69): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191670 | TATATATA others(43): Show |
T | downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0050 | 1 | 293 | 0.0034 | -50 | c.*69 others(61): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3514 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43280943 | TCCTGTCA others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 278 | 0.0036 | -50 | c.484 others(69): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281483 | TCTTTGGC others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02074.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0022a0002c0002a0002c0042others(4): Show | a0001c0022t0001a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0022t0001g0253 a0002c0002t0001g0120 a0002c0002t0001g0173 others(18): Show |
21 | 276 | 0.0761 | -50 | c.484 others(67): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281490 | CCACCCTC others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG00741.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0034others(5): Show | a0001c0003t0003a0001c0004t0036a0001c0034t0008others(9): Show | a0001c0003t0003g0224 a0001c0004t0036g0237 a0001c0034t0008g0032 others(12): Show |
16 | 268 | 0.0597 | -50 | c.484 others(67): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30454938 | AATATATT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 452 | 0.0022 | -50 | c.*50 others(61): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4290 | chr22 | TogoVar | |||||||
SEC24A_chr5_134643785_134732909 | 134667273 | CTTTTGGA others(43): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0304 | 1 | 316 | 0.0032 | -50 | c.739 others(65): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107934820 | GCCAGCTG others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 others(223): Show |
228 | 330 | 0.6909 | -50 | c.125 others(67): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83389851 | ATATACAC others(43): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 223 | 0.0045 | -50 | c.166 others(69): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571862 | TATATATA others(43): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 NA18967.hp1 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 a0001c0001t0005g0043 |
4 | 443 | 0.0090 | -50 | c.*38 others(59): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 387 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERGEF_chr11_17783048_18018047 | 17896853 | TAAGGGAA others(43): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 102 | 0.0098 | -50 | c.101 others(71): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449461 | CTTTCTTT others(43): Show |
C | intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 448 | 0.0022 | -50 | c.-3- others(63): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26294883 | TTCTTTCT others(43): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0193 | 1 | 238 | 0.0042 | -50 | c.969 others(65): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28564695 | ATGTATAT others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 |
3 | 283 | 0.0106 | -50 | c.-16 others(69): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660002 | GACAGACA others(43): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0196 | 1 | 299 | 0.0033 | -50 | c.460 others(65): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2355387 | TGGGGCAG others(43): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(54): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0001c0039others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(53): Show |
57 | 333 | 0.1712 | -50 | c.134 others(67): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2355397 | GCCCCATA others(43): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 304 | 0.0033 | -50 | c.134 others(67): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | chr17 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2355532 | GGTTGGGG others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(55): Show |
a0001a0010a0014others(3): Show | a0001c0001a0001c0003a0001c0020others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0053 others(53): Show |
58 | 411 | 0.1411 | -50 | c.134 others(67): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |