regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMAD2_chr18_47803957_47935659 | 47850310 | TGTTATAT others(393): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0206a0001c0001t0207 | a0001c0001t0206g0117a0001c0001t0207g0118 | 2 | 310 | 0.0065 | -400 | c.784 others(15): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
STAT3_chr17_42308324_42393442 | 42337881 | TGACCTGA others(393): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 302 | 0.0033 | -400 | c.551 others(14): Show |
STAT3 | ENSG00000168610.17 | transcript | ENST00000264657.10 | protein_coding | 6/23 | chr17 | TogoVar | ||||||
STAT3_chr17_42308324_42393442 | 42337981 | GGACCTGA others(393): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0001 | 1 | 302 | 0.0033 | -400 | c.550 others(15): Show |
STAT3 | ENSG00000168610.17 | transcript | ENST00000264657.10 | protein_coding | 6/23 | chr17 | TogoVar | ||||||
TNFRSF11B_chr8_118918557_118956885 | 118918859 | GCTGTGTG others(393): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 428 | 0.0023 | -400 | c.*51 others(11): Show |
TNFRSF11B | ENSG00000164761.9 | transcript | ENST00000297350.9 | protein_coding | 4697 | chr8 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195874934 | TCCCCTCG others(393): Show |
T | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0103a0001c0002t0001g0218 | 2 | 372 | 0.0054 | -400 | c.125 others(19): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
TPD52L2_chr20_63860270_63896538 | 63879940 | AGGCACAA others(393): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 368 | 0.0027 | -400 | c.375 others(17): Show |
TPD52L2 | ENSG00000101150.18 | transcript | ENST00000346249.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42078116 | CCAACACC others(393): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 |
a0010a0108 | a0010c0015a0108c0186 | a0010c0015t0005a0108c0186t0005 | a0010c0015t0005g0119a0108c0186t0005g0114 | 2 | 400 | 0.0050 | -400 | c.319 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
UMODL1_chr21_42066317_42147996 | 42078147 | AGGGCCAG others(393): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02895.hp2 others(2): Show |
a0012a0017a0027others(1): Show | a0012c0051a0017c0155a0027c0061others(1): Show | a0012c0051t0023a0017c0155t0009a0027c0061t0005others(1): Show | a0012c0051t0023g0162a0012c0051t0023g0163a0017c0155t0009g0083others(2): Show | 5 | 400 | 0.0125 | -400 | c.319 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZNF713_chr7_55882456_55947225 | 55938274 | AAGAATAC others(393): Show |
A | intron_variant | MODIFIER | HG04228.hp2 NA18944.hp2 NA18945.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0270a0001c0001t0019g0271a0001c0001t0019g0339others(2): Show | 5 | 410 | 0.0122 | -400 | c.308 others(15): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF835_chr19_56656980_56676757 | 56669497 | AGGGGCCT others(393): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0007a0002c0002t0001a0002c0002t0045others(1): Show | a0001c0006t0007g0088a0002c0002t0001g0146a0002c0002t0045g0126others(1): Show | 4 | 450 | 0.0089 | -400 | c.-48 others(17): Show |
ZNF835 | ENSG00000127903.14 | transcript | ENST00000537055.4 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ZNF835_chr19_56656980_56676757 | 56669546 | CCAGGAGT others(393): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01952.hp2 others(8): Show |
a0002a0003a0006 | a0002c0004a0003c0003a0006c0009 | a0002c0004t0012a0002c0004t0025a0002c0004t0040others(2): Show | a0002c0004t0012g0042a0002c0004t0012g0043a0002c0004t0025g0041others(4): Show | 11 | 450 | 0.0244 | -400 | c.-48 others(17): Show |
ZNF835 | ENSG00000127903.14 | transcript | ENST00000537055.4 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88855766 | ACTGCCCC others(392): Show |
A | conservative_inframe_deletion | MODERATE | HG02886.hp2 HG02895.hp2 NA18906.hp2 |
a0051a0084 | a0051c0027a0084c0111 | a0051c0027t0001a0051c0027t0009a0084c0111t0001 | a0051c0027t0001g0010a0051c0027t0009g0159a0084c0111t0001g0019 | 3 | 368 | 0.0082 | -399 | c.323 others(9): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3619/8960 | 3238/7707 | 1080/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(392): Show |
A | disruptive_inframe_deletion | MODERATE | HG03579.hp2 NA19043.hp1 |
a0065a0086 | a0065c0069a0086c0110 | a0065c0069t0001a0086c0110t0001 | a0065c0069t0001g0156a0086c0110t0001g0190 | 2 | 368 | 0.0054 | -399 | c.329 others(9): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3675/8960 | 3294/7707 | 1098/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ATAD2_chr8_123314850_123401447 | 123315029 | AGGGGGGT others(392): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 278 | 0.0036 | -399 | c.*57 others(11): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4820 | chr8 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123315081 | GGCATCAG others(392): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0208 | 1 | 278 | 0.0036 | -399 | c.*56 others(11): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4768 | chr8 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920912 | TCCCCAGG others(392): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0018 | 2 | 364 | 0.0055 | -399 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12775721 | AGGTGAGA others(392): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0074 | 1 | 214 | 0.0047 | -399 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88955271 | CCATCCAA others(392): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0245 | 1 | 284 | 0.0035 | -399 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955328 | CCGCCCAA others(392): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0100 | 1 | 284 | 0.0035 | -399 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955405 | TACCCAAG others(392): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0284 | 1 | 284 | 0.0035 | -399 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168317468 | ATGTGTGT others(392): Show |
A | intron_variant | MODIFIER | NA18954.hp1 NA18973.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0193 | 3 | 476 | 0.0063 | -399 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3775568 | GGCTCTGA others(392): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0106 | 1 | 324 | 0.0031 | -399 | c.955 others(17): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ELFN1_chr7_1665277_1752946 | 1702554 | ATGGATTG others(392): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0055others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0298a0001c0001t0005g0150others(6): Show | 9 | 302 | 0.0298 | -399 | c.-45 others(19): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109216 | CCCTCCCT others(392): Show |
C | intron_variant | MODIFIER | HG02886.hp2 NA18944.hp1 |
a0002a0005 | a0002c0011a0005c0004 | a0002c0011t0001a0005c0004t0003 | a0002c0011t0001g0197a0005c0004t0003g0217 | 2 | 404 | 0.0050 | -399 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103109289 | TCCCTCCC others(392): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00733.hp1 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0014a0002c0007others(6): Show | a0001c0003t0002a0001c0014t0001a0001c0014t0003others(10): Show | a0001c0003t0002g0291a0001c0014t0001g0092a0001c0014t0003g0063others(15): Show | 24 | 404 | 0.0594 | -399 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FAM210A_chr18_13658347_13731558 | 13674317 | ACTTTATT others(392): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0016others(72): Show | 78 | 326 | 0.2393 | -399 | c.474 others(17): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48659513 | AGGGAGAA others(392): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA19043.hp2 |
a0002a0017 | a0002c0004a0017c0027 | a0002c0004t0001a0017c0027t0001 | a0002c0004t0001g0215a0017c0027t0001g0210 | 2 | 282 | 0.0071 | -399 | c.-81 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
GHDC_chr17_42184087_42199494 | 42195668 | GCTTTATC others(392): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0005g0017 | 4 | 374 | 0.0107 | -399 | c.-17 others(11): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 1175 | chr17 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 707442 | AGCTGCAG others(392): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02622.hp2 others(7): Show |
a0003a0006a0007others(1): Show | a0003c0003a0006c0030a0007c0014others(2): Show | a0003c0003t0002a0006c0030t0013a0007c0014t0001others(3): Show | a0003c0003t0002g0150a0006c0030t0013g0215a0007c0014t0001g0073others(7): Show | 10 | 254 | 0.0394 | -399 | c.38- others(15): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142042916 | ATACATAT others(392): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03130.hp1 NA19043.hp2 |
a0064a0065a0066 | a0064c0138a0065c0112a0066c0137 | a0064c0138t0002a0065c0112t0001a0066c0137t0001 | a0064c0138t0002g0034a0065c0112t0001g0244a0066c0137t0001g0035 | 3 | 316 | 0.0095 | -399 | c.249 others(19): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(392): Show |
T | conservative_inframe_deletion | MODERATE | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(17): Show |
a0000a0026a0027others(1): Show | a0000c0002a0000c0034a0026c0065others(2): Show | a0000c0002t0003a0000c0034t0003a0026c0065t0001others(2): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(7): Show | 20 | 185 | 0.1081 | -399 | c.544 others(7): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
MUC20_chr3_195715978_195738551 | 195725147 | AGCCCCCA others(392): Show |
A | disruptive_inframe_deletion | MODERATE | HG01074.hp2 NA18966.hp2 NA18969.hp2 |
a0010 | a0010c0016a0010c0050 | a0010c0016t0002a0010c0050t0002 | a0010c0016t0002g0003a0010c0050t0002g0009 | 3 | 185 | 0.0162 | -399 | c.662 others(8): Show |
p.Pro others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 692/2493 | 662/2130 | 221/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
MUC20_chr3_195715978_195738551 | 195725265 | CCCATCCA others(392): Show |
C | disruptive_inframe_deletion | MODERATE | HG02280.hp2 | a0037 | a0037c0057 | a0037c0057t0002 | a0037c0057t0002g0109 | 1 | 185 | 0.0054 | -399 | c.795 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 825/2493 | 795/2130 | 265/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
MYOM2_chr8_2040046_2150456 | 2085560 | CTGCGTGG others(392): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0379 | 1 | 403 | 0.0025 | -399 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085831 | GCCCCACT others(392): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0107 | 1 | 403 | 0.0025 | -399 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085849 | CTTTGTGG others(392): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0028 | a0028c0052 | a0028c0052t0002 | a0028c0052t0002g0064 | 1 | 403 | 0.0025 | -399 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NXN_chr17_794310_984776 | 941361 | TGAACAAG others(392): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033 | a0001c0001t0005g0007a0001c0001t0033g0241 | 2 | 242 | 0.0083 | -399 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 941532 | TGAACAAG others(392): Show |
T | intron_variant | MODIFIER | HG03704.hp2 HG03710.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0112a0001c0001t0002g0148 | 3 | 242 | 0.0124 | -399 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 941589 | CGAACAAG others(392): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0022 | 1 | 242 | 0.0041 | -399 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 941682 | CACACCTT others(392): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG01433.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0069others(20): Show | 23 | 242 | 0.0950 | -399 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114705 | AGATACGT others(392): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0277 | 1 | 332 | 0.0030 | -399 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 744759 | GGGGGTCG others(392): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0328 | 1 | 366 | 0.0027 | -399 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 747172 | CTCGCCGT others(392): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0025a0001c0005t0017 | a0001c0001t0002g0158a0001c0001t0002g0183a0001c0001t0002g0184others(2): Show | 5 | 366 | 0.0137 | -399 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PXMP4_chr20_33697758_33725310 | 33699510 | GGGGGGGT others(392): Show |
G | downstream_gene_variant | MODIFIER | NA18947.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0032a0001c0001t0025g0102 | 2 | 388 | 0.0052 | -399 | c.*77 others(11): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 3247 | chr20 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4137677 | CCCCCCCA others(392): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 368 | 0.0027 | -399 | c.219 others(17): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RTEL1_chr20_63653312_63701245 | 63670043 | GCCAAGAT others(392): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01258.hp1 HG02451.hp2 others(7): Show |
a0001a0008 | a0001c0001a0001c0007a0001c0011others(3): Show | a0001c0001t0002a0001c0007t0002a0001c0011t0002others(3): Show | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0010others(7): Show | 10 | 60 | 0.1667 | -399 | c.699 others(17): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
STAT5B_chr17_42194177_42281391 | 42195668 | GCTTTATC others(392): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0182a0001c0001t0001g0183others(1): Show | 4 | 260 | 0.0154 | -399 | c.*56 others(11): Show |
STAT5B | ENSG00000173757.11 | transcript | ENST00000293328.8 | protein_coding | 3508 | chr17 | TogoVar | ||||||
TMEM184B_chr22_38214291_38278010 | 38229646 | TCAGCCCA others(392): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 354 | 0.0028 | -399 | c.525 others(16): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 5/8 | chr22 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195874846 | CCCCTCGG others(392): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0024 | a0024c0077 | a0024c0077t0001 | a0024c0077t0001g0086 | 1 | 372 | 0.0027 | -399 | c.125 others(19): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44047485 | TTAACATC others(392): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(282): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(281): Show | 285 | 288 | 0.9896 | -399 | c.412 others(17): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |