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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3181445 | T | TACACACG others(405): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 130 | 0.0077 | 412 | c.38- others(427): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51696870 | T | TACACACA others(405): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0026 | a0026c0019 | a0026c0019t0001 | a0026c0019t0001g0090 | 1 | 23 | 0.0435 | 412 | c.165 others(431): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51696870 | T | TACACACA others(405): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0092 | 1 | 23 | 0.0435 | 412 | c.165 others(431): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504692 | T | TCCTCCTG others(405): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0122 | 1 | 286 | 0.0035 | 412 | c.139 others(429): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RALGDS_chr9_133092722_133126240 | 133123716 | G | GCACACAC others(405): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0182 | 1 | 422 | 0.0024 | 412 | c.-25 others(423): Show |
RALGDS | ENSG00000160271.16 | transcript | ENST00000372050.8 | protein_coding | 2477 | chr9 | TogoVar | |||||||
RAMACL_chr6_166578009_166591678 | 166581999 | A | ACAGGGAG others(405): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00639.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0007g0000 others(1): Show |
84 | 137 | 0.6131 | 412 | c.*41 others(423): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1009 | chr6 | TogoVar | |||||||
RBM33_chr7_155639661_155786480 | 155673689 | C | CACGCATA others(405): Show |
intron_variant | MODIFIER | NA19067.hp1 NA19074.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0009 | a0001c0003t0008g0256 a0001c0003t0009g0261 |
2 | 303 | 0.0066 | 412 | c.171 others(427): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673695 | T | TATACATA others(405): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0268 | 1 | 293 | 0.0034 | 412 | c.171 others(427): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(405): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01069.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show |
18 | 47 | 0.3830 | 412 | c.*36 others(423): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(405): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 30 | 0.0333 | 412 | c.*36 others(423): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(405): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 30 | 0.0333 | 412 | c.*36 others(423): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242710 | T | TTACCTTC others(405): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0026 | 1 | 93 | 0.0108 | 412 | c.613 others(429): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242710 | T | TTACCTTC others(405): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0090 | 1 | 93 | 0.0108 | 412 | c.613 others(429): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166581999 | A | ACAGGGAG others(405): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01123.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(28): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0003g0176 others(36): Show |
39 | 72 | 0.5417 | 412 | c.100 others(431): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750591 | T | TATATCTA others(405): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0133 a0001c0001t0001g0169 |
3 | 93 | 0.0323 | 412 | c.242 others(429): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(405): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0367 | 1 | 2 | 0.5000 | 412 | c.807 others(429): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(405): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 2 | 3 | 0.6667 | 412 | c.807 others(429): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(405): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0360 | 1 | 2 | 0.5000 | 412 | c.807 others(429): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(405): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0238 | 1 | 219 | 0.0046 | 412 | c.-58 others(419): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668443 | T | TACCCTCC others(405): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19003.hp2 NA19065.hp1 |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0002a0002c0002t0002 | a0001c0001t0002g0072 a0001c0006t0002g0210 a0002c0002t0002g0219 |
3 | 219 | 0.0137 | 412 | c.249 others(431): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGCGA others(405): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18959.hp2 NA18982.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0004 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0257 others(2): Show |
5 | 44 | 0.1136 | 412 | c.-30 others(431): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77704206 | A | ATACATAT others(405): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 208 | 0.0048 | 412 | c.626 others(429): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923608 | C | CATATATG others(405): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0136 | 1 | 92 | 0.0109 | 412 | c.173 others(431): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923608 | C | CATATATG others(405): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0128 | 1 | 92 | 0.0109 | 412 | c.173 others(431): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923611 | A | ATATGTAC others(405): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 155 | 0.0065 | 412 | c.173 others(431): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(405): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 6 | 0.1667 | 412 | c.138 others(431): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642300 | G | GGCCCAGC others(405): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 6 | 0.1667 | 412 | c.*64 others(423): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4314 | chr20 | TogoVar | |||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(405): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 71 | 0.0141 | 412 | c.262 others(431): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(405): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 71 | 0.0141 | 412 | c.262 others(431): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUCLG2_chr3_67369719_67659612 | 67444510 | T | TGGGGGGG others(405): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 221 | 0.0045 | 412 | c.106 others(433): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(405): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0261 a0001c0001t0005g0056 a0001c0001t0005g0105 others(3): Show |
6 | 92 | 0.0652 | 412 | c.271 others(429): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(405): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0185 a0001c0001t0007g0057 |
2 | 88 | 0.0227 | 412 | c.271 others(429): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(405): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 72 | 0.0139 | 412 | c.309 others(431): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(405): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(1): Show |
4 | 75 | 0.0533 | 412 | c.309 others(431): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628327 | A | ATGAGGCG others(405): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0008 | a0003c0008t0064 | a0003c0008t0064g0265 | 1 | 126 | 0.0079 | 412 | c.299 others(427): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628415 | C | CAGAACTC others(405): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0006 | a0003c0006t0012 | a0003c0006t0012g0326 | 1 | 347 | 0.0029 | 412 | c.299 others(427): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121185709 | G | GAATGAGT others(405): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0291 | 1 | 346 | 0.0029 | 412 | c.600 others(431): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272715 | A | ACATCAGA others(405): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 371 | 0.0027 | 412 | c.228 others(429): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273554 | C | CCACACAT others(405): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 240 | 0.0042 | 412 | c.228 others(431): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273554 | C | CCACACAT others(405): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 240 | 0.0042 | 412 | c.228 others(431): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747867 | T | TGGGAGGC others(405): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0242 | 1 | 185 | 0.0054 | 412 | c.189 others(427): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607357 | G | GACAGACC others(405): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 196 | 0.0051 | 412 | c.323 others(431): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930542 | G | GGGGTTAG others(405): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 285 | 0.0035 | 412 | c.*50 others(423): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4827 | chr11 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1422316 | A | AGACCTCG others(405): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0123 | 1 | 115 | 0.0087 | 412 | c.95- others(425): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(405): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 87 | 0.0115 | 412 | c.30+ others(429): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(405): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 8 | 0.1250 | 412 | c.657 others(427): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(405): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0025 | a0025c0020 | a0025c0020t0001 | a0025c0020t0001g0019 | 1 | 218 | 0.0046 | 412 | c.106 others(431): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(405): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0027 | a0027c0031 | a0027c0031t0003 | a0027c0031t0003g0058 | 1 | 334 | 0.0030 | 412 | c.103 others(433): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222092 | C | CCATCACC others(405): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 155 | 0.0065 | 412 | c.*26 others(423): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2184 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(405): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0282 |
2 | 320 | 0.0063 | 412 | c.*35 others(431): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar |