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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPA2_chr4_105364077_105479062 | 105366666 | ATTTTGGA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 366 | 0.0027 | -86 | c.*29 others(97): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 2410 | chr4 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809340 | CCATCTCT others(79): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0009 | a0001c0009t0023 | a0001c0009t0023g0212 | 1 | 320 | 0.0031 | -86 | c.79- others(103): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809354 | GATAGATA others(79): Show |
G | intron_variant | MODIFIER | HG04115.hp1 HG04199.hp2 |
a0001 | a0001c0004a0001c0033 | a0001c0004t0006a0001c0033t0001 | a0001c0004t0006g0095 a0001c0033t0001g0097 |
2 | 320 | 0.0063 | -86 | c.79- others(103): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101885435 | GGGAGCAC others(79): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01433.hp2 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0082 others(13): Show |
16 | 138 | 0.1159 | -86 | c.794 others(103): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121908 | AGGGTCAC others(79): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01358.hp1 HG02004.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(15): Show |
18 | 286 | 0.0629 | -86 | c.335 others(105): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161873978 | AAATATAT others(79): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 32 | 0.0313 | -86 | c.735 others(105): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351572 | TATATAAA others(79): Show |
T | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 272 | 0.0037 | -86 | c.-12 others(107): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19779791 | TGCCCGGC others(79): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00673.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(28): Show |
32 | 258 | 0.1240 | -86 | c.372 others(103): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(79): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(91): Show |
103 | 354 | 0.2910 | -86 | c.*65 others(95): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 655 | chr1 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1368844 | TTCGGGTC others(79): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0242 a0001c0001t0006g0253 |
2 | 412 | 0.0049 | -86 | c.142 others(103): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1368875 | CCAGCCCA others(79): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210 | 1 | 412 | 0.0024 | -86 | c.142 others(103): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51347686 | TCATGCCT others(79): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02896.hp2 others(1): Show |
a0009a0015a0027 | a0009c0008a0015c0026a0027c0023 | a0009c0008t0001a0009c0008t0003a0015c0026t0001others(1): Show | a0009c0008t0001g0064 a0009c0008t0003g0007 a0015c0026t0001g0027 others(1): Show |
4 | 122 | 0.0328 | -86 | c.390 others(105): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 19/22 | chr8 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248602 | TATACACA others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(74): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(68): Show |
77 | 384 | 0.2005 | -86 | c.-53 others(105): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
RAB3IL1_chr11_61892301_61922566 | 61913461 | GCAGATCA others(79): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 392 | 0.0026 | -86 | c.11+ others(101): Show |
RAB3IL1 | ENSG00000167994.13 | transcript | ENST00000394836.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82691993 | AGCAGAGC others(79): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01192.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 others(10): Show |
13 | 338 | 0.0385 | -86 | c.142 others(103): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAPGEF2_chr4_159098079_159365173 | 159159346 | GAGAAAAT others(79): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 others(82): Show |
85 | 194 | 0.4381 | -86 | c.70- others(103): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RAPGEF6_chr5_131418921_131640229 | 131468495 | ATTAAAAA others(79): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(120): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0008 others(120): Show |
123 | 324 | 0.3796 | -86 | c.223 others(105): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 17/27 | chr5 | TogoVar | |||||||
RASSF7_chr11_555970_569025 | 562772 | TGCAGGTG others(79): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0012 | 1 | 397 | 0.0025 | -86 | c.822 others(100): Show |
RASSF7 | ENSG00000099849.15 | transcript | ENST00000397583.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30391015 | GGCTGGAA others(79): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0303 | 1 | 304 | 0.0033 | -86 | c.66+ others(101): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111422595 | CACATATA others(79): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0108 | 1 | 288 | 0.0035 | -86 | c.140 others(103): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11414333 | ATATATAC others(79): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0180 | 1 | 402 | 0.0025 | -86 | c.637 others(103): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130610123 | AGTCCCTC others(79): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0079 | 1 | 180 | 0.0056 | -86 | c.-21 others(107): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242970 | ACCTTCCT others(79): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 133 | 0.0075 | -86 | c.613 others(103): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287177 | CCTCTCTC others(79): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 133 | 0.0075 | -86 | c.352 others(103): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665444 | TTTCCTTT others(79): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0079 | a0001c0079t0050 | a0001c0079t0050g0097 | 1 | 196 | 0.0051 | -86 | c.348 others(105): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSPO4_chr20_953452_1007311 | 959106 | AGTGTGGT others(79): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0270 | 1 | 376 | 0.0027 | -86 | c.*11 others(97): Show |
RSPO4 | ENSG00000101282.9 | transcript | ENST00000217260.9 | protein_coding | 5/5 | 1165 | chr20 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59749154 | CTATATCT others(79): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG03516.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0156 others(1): Show |
4 | 172 | 0.0233 | -86 | c.242 others(103): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749553 | AGATATCT others(79): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(1): Show |
a0001a0003 | a0001c0007a0003c0004 | a0001c0007t0005a0003c0004t0001 | a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 others(1): Show |
4 | 172 | 0.0233 | -86 | c.242 others(103): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTRAF_chr14_51984546_52015694 | 52002814 | AGGCCAAG others(79): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 436 | 0.0023 | -86 | c.531 others(102): Show |
RTRAF | ENSG00000087302.9 | transcript | ENST00000261700.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUBCN_chr3_197663867_197741904 | 197707059 | TGTGGCCG others(79): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp1 others(12): Show |
a0002a0015 | a0002c0003a0015c0020 | a0002c0003t0003a0002c0003t0045a0002c0003t0046others(1): Show | a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 others(8): Show |
15 | 186 | 0.0807 | -86 | c.220 others(103): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 2/19 | chr3 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34993693 | GCGCACAC others(79): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0102 others(15): Show |
18 | 170 | 0.1059 | -86 | c.58+ others(103): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
SAFB_chr19_5618083_5673478 | 5650009 | CATGTATG others(79): Show |
C | intron_variant | MODIFIER | NA18941.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0113 | 1 | 282 | 0.0036 | -86 | c.119 others(102): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 8/20 | chr19 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 127965834 | ATTTAATA others(79): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 350 | 0.0029 | -86 | c.206 others(107): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668402 | TTCACCCT others(79): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0118 | 1 | 262 | 0.0038 | -86 | c.249 others(105): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 136264 | ACCTAACC others(79): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0015 | 2 | 402 | 0.0050 | -86 | c.-13 others(97): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1304 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 140897 | CTGGTGAG others(79): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 1 | 402 | 0.0025 | -86 | c.*19 others(97): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1831 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4194354 | GTATGCAC others(79): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0040 | a0001c0040t0050 | a0001c0040t0050g0022 | 1 | 116 | 0.0086 | -86 | c.509 others(107): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4257861 | TGATTGGC others(79): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 NA18906.hp1 |
a0002a0018a0034 | a0002c0044a0018c0024a0034c0076 | a0002c0044t0035a0018c0024t0061a0034c0076t0008 | a0002c0044t0035g0079 a0018c0024t0061g0013 a0034c0076t0008g0016 |
3 | 116 | 0.0259 | -86 | c.638 others(105): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN8_chr5_132745819_132782239 | 132770063 | GTATATAT others(79): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(139): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show |
142 | 326 | 0.4356 | -86 | c.31- others(101): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2962238 | GGTGCACA others(79): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 384 | 0.0026 | -86 | c.-10 others(103): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134213546 | TAAAATGT others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0168 others(6): Show |
9 | 250 | 0.0360 | -86 | c.286 others(103): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SIMC1_chr5_176233424_176350989 | 176306148 | TCCGGGAG others(79): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 |
3 | 360 | 0.0083 | -86 | c.173 others(105): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176306275 | TCCGGGAG others(79): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 |
3 | 360 | 0.0083 | -86 | c.173 others(105): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280609 | TGCCCGAG others(79): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0023 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280807 | AGATCTTC others(79): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280993 | AGGACGCC others(79): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0294 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281463 | GAGAGAGG others(79): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0085 | a0001c0001t0009g0095 a0001c0001t0085g0263 |
2 | 330 | 0.0061 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281494 | TGGAGATC others(79): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281623 | CGGAGATC others(79): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG03453.hp1 NA18946.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0025a0006c0006t0078 | a0001c0001t0001g0285 a0001c0001t0025g0238 a0006c0006t0078g0269 |
3 | 330 | 0.0091 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281644 | TGCCCGAG others(79): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0308 | 1 | 330 | 0.0030 | -86 | c.970 others(105): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |