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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAND5_chr19_12964576_12979760 | 12969650 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0009 | 1 | 398 | 0.0025 | 0 | c.-11 others(3): Show |
DAND5 | ENSG00000179284.6 | transcript | ENST00000317060.4 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
DAOA_chr13_105461045_105496034 | 105466263 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp2 HG00621.hp1 HG01496.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0021a0001c0001t0003g0060others(11): Show | 21 | 412 | 0.0510 | 0 | c.-26 others(3): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 2/6 | chr13 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64046301 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0192 | 1 | 214 | 0.0047 | 0 | c.-10 others(3): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64046394 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp2 HG01169.hp1 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0038others(3): Show | a0001c0001t0003g0200a0001c0001t0003g0201a0001c0001t0003g0203others(14): Show | 17 | 214 | 0.0794 | 0 | c.-10 others(4): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10761231 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0340 | 1 | 372 | 0.0027 | 0 | c.-16 others(4): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
DBF4_chr7_87871493_87914553 | 87876600 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0030 | 1 | 292 | 0.0034 | 0 | c.-13 others(4): Show |
DBF4 | ENSG00000006634.8 | transcript | ENST00000265728.6 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
DBF4_chr7_87871493_87914553 | 87876686 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 HG03041.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0122a0001c0001t0009g0133others(1): Show | 4 | 292 | 0.0137 | 0 | c.-47 others(3): Show |
DBF4 | ENSG00000006634.8 | transcript | ENST00000265728.6 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
DBN1_chr5_177451610_177478634 | 177473574 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0242 | 1 | 346 | 0.0029 | 0 | c.-53 others(3): Show |
DBN1 | ENSG00000113758.14 | transcript | ENST00000393565.6 | protein_coding | 1/15 | chr5 | TogoVar | ||||||
DBR1_chr3_138155988_138179921 | 138174844 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0004t0005 | a0001c0003t0005g0115a0001c0004t0005g0015a0001c0004t0005g0114 | 6 | 370 | 0.0162 | 0 | c.-49 others(3): Show |
DBR1 | ENSG00000138231.14 | transcript | ENST00000260803.9 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
DCAF11_chr14_24109777_24130242 | 24115152 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 416 | 0.0024 | 0 | c.-35 others(4): Show |
DCAF11 | ENSG00000100897.18 | transcript | ENST00000446197.8 | protein_coding | 1/15 | chr14 | TogoVar | ||||||
DCAF12_chr9_34081387_34131698 | 34126491 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0337 | 1 | 370 | 0.0027 | 0 | c.-60 others(3): Show |
DCAF12 | ENSG00000198876.13 | transcript | ENST00000361264.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
DCAF12_chr9_34081387_34131698 | 34126504 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0337 | 1 | 370 | 0.0027 | 0 | c.-73 others(3): Show |
DCAF12 | ENSG00000198876.13 | transcript | ENST00000361264.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
DCAF12_chr9_34081387_34131698 | 34126528 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0337 | 1 | 370 | 0.0027 | 0 | c.-97 others(3): Show |
DCAF12 | ENSG00000198876.13 | transcript | ENST00000361264.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
DCAF12_chr9_34081387_34131698 | 34126549 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0337 | 1 | 370 | 0.0027 | 0 | c.-11 others(4): Show |
DCAF12 | ENSG00000198876.13 | transcript | ENST00000361264.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
DCAF12_chr9_34081387_34131698 | 34126564 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0337 | 1 | 370 | 0.0027 | 0 | c.-13 others(4): Show |
DCAF12 | ENSG00000198876.13 | transcript | ENST00000361264.9 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
DCAF4L1_chr4_41976756_41991465 | 41981770 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG01074.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 9 | 314 | 0.0287 | 0 | c.-23 others(3): Show |
DCAF4L1 | ENSG00000182308.7 | transcript | ENST00000333141.7 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
DCAF5_chr14_69045881_69158119 | 69153109 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0242 | 1 | 244 | 0.0041 | 0 | c.-13 others(4): Show |
DCAF5 | ENSG00000139990.18 | transcript | ENST00000341516.10 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135447288 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0000 | 1 | 456 | 0.0022 | 0 | c.-18 others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
DCBLD1_chr6_117477674_117554797 | 117482678 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0324 | 1 | 370 | 0.0027 | 0 | c.-10 others(4): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 1/15 | chr6 | TogoVar | ||||||
DCBLD2_chr3_98790941_98906695 | 98901528 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0153others(187): Show | 193 | 330 | 0.5849 | 0 | c.-20 others(4): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24357949 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0180 | 1 | 216 | 0.0046 | 0 | c.-19 others(4): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24357974 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(12): Show | a0001c0001t0007g0195a0001c0001t0008g0190a0001c0001t0008g0194others(33): Show | 36 | 216 | 0.1667 | 0 | c.-22 others(4): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24357990 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0001 | 1 | 216 | 0.0046 | 0 | c.-24 others(4): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
DCHS1_chr11_6616330_6660809 | 6641658 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 | a0017 | a0017c0078 | a0017c0078t0007 | a0017c0078t0007g0126 | 1 | 374 | 0.0027 | 0 | c.-45 others(3): Show |
DCHS1 | ENSG00000166341.9 | transcript | ENST00000299441.5 | protein_coding | 2/21 | chr11 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150078627 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02273.hp2 NA18954.hp1 |
a0001a0005 | a0001c0011a0005c0010 | a0001c0011t0020a0005c0010t0021 | a0001c0011t0020g0065a0005c0010t0021g0042 | 2 | 116 | 0.0172 | 0 | c.-40 others(4): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
DCLRE1A_chr10_113829725_113859082 | 113854072 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03195.hp1 HG06807.hp1 |
a0002a0009 | a0002c0002a0009c0010 | a0002c0002t0013a0009c0010t0014 | a0002c0002t0013g0167a0009c0010t0014g0168 | 2 | 400 | 0.0050 | 0 | c.-89 others(4): Show |
DCLRE1A | ENSG00000198924.8 | transcript | ENST00000361384.7 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
DCLRE1B_chr1_113900326_113919086 | 113905356 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0029 | 1 | 446 | 0.0022 | 0 | c.-23 others(4): Show |
DCLRE1B | ENSG00000118655.8 | transcript | ENST00000650450.2 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
DCLRE1C_chr10_14899613_14959096 | 14954042 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0385 | 1 | 392 | 0.0026 | 0 | c.-32 others(3): Show |
DCLRE1C | ENSG00000152457.19 | transcript | ENST00000378278.7 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
DCST1_chr1_155028824_155055930 | 155033986 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 306 | 0.0033 | 0 | c.-51 others(3): Show |
DCST1 | ENSG00000163357.11 | transcript | ENST00000295542.6 | protein_coding | 2/17 | chr1 | TogoVar | ||||||
DCTD_chr4_182885091_182922386 | 182917316 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0281 | 1 | 376 | 0.0027 | 0 | c.-13 others(3): Show |
DCTD | ENSG00000129187.15 | transcript | ENST00000438320.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
DCTD_chr4_182885091_182922386 | 182917321 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0282 | 1 | 376 | 0.0027 | 0 | c.-18 others(3): Show |
DCTD | ENSG00000129187.15 | transcript | ENST00000438320.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
DCTN2_chr12_57525051_57552192 | 57547073 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 HG02630.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0016a0001c0001t0003g0032a0001c0001t0003g0111others(1): Show | 8 | 352 | 0.0227 | 0 | c.-10 others(3): Show |
DCTN2 | ENSG00000175203.17 | transcript | ENST00000548249.6 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
DDAH1_chr1_85313485_85470159 | 85465150 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0403 | 1 | 416 | 0.0024 | 0 | c.-10 others(4): Show |
DDAH1 | ENSG00000153904.21 | transcript | ENST00000284031.13 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
DDI1_chr11_104031640_104044196 | 104036802 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp2 HG02615.hp2 NA18522.hp1 |
a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0000 | 3 | 448 | 0.0067 | 0 | c.-21 others(3): Show |
DDI1 | ENSG00000170967.5 | transcript | ENST00000302259.5 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
DDX19A_chr16_70341903_70378383 | 70346910 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0327 | 1 | 392 | 0.0026 | 0 | c.-82 others(3): Show |
DDX19A | ENSG00000168872.17 | transcript | ENST00000302243.12 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
DDX1_chr2_15586868_15636101 | 15591878 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00673.hp2 HG02027.hp1 HG02056.hp2 others(45): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0003a0001c0004t0003a0001c0004t0007others(3): Show | a0001c0001t0003g0185a0001c0004t0003g0002a0001c0004t0003g0019others(26): Show | 48 | 396 | 0.1212 | 0 | c.-56 others(3): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
DDX24_chr14_94043287_94086202 | 94081168 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02015.hp1 | a0003 | a0003c0005 | a0003c0005t0045 | a0003c0005t0045g0217 | 1 | 371 | 0.0027 | 0 | c.-55 others(3): Show |
DDX24 | ENSG00000089737.19 | transcript | ENST00000621632.5 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
DDX49_chr19_18914715_18933630 | 18919726 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 398 | 0.0025 | 0 | c.-16 others(3): Show |
DDX49 | ENSG00000105671.12 | transcript | ENST00000247003.9 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68901328 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0015 | 2 | 334 | 0.0060 | 0 | c.-57 others(3): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
DDX5_chr17_64493254_64511289 | 64506251 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0074 | 1 | 370 | 0.0027 | 0 | c.-13 others(4): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DDX5_chr17_64493254_64511289 | 64506264 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0075 | 1 | 370 | 0.0027 | 0 | c.-14 others(4): Show |
DDX5 | ENSG00000108654.16 | transcript | ENST00000225792.10 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DEFB105A_chr8_7816004_7828880 | 7823858 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(69): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0028others(14): Show | 72 | 146 | 0.4932 | 0 | c.-20 others(3): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
DEFB105A_chr8_7816004_7828880 | 7823864 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 146 | 0.0069 | 0 | c.-26 others(3): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
DEFB105B_chr8_7482679_7494593 | 7487701 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00673.hp1 HG01346.hp1 HG01358.hp1 others(35): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0004c0003t0002 | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0007others(8): Show | 38 | 136 | 0.2794 | 0 | c.-20 others(3): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
DEFB109B_chr8_7307722_7325096 | 7312795 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 377 | 0.0027 | 0 | c.-51 others(3): Show |
DEFB109B | ENSG00000206034.2 | transcript | ENST00000382656.2 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
DEFB109B_chr8_7307722_7325096 | 7312826 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0081 | 1 | 377 | 0.0027 | 0 | c.-20 others(3): Show |
DEFB109B | ENSG00000206034.2 | transcript | ENST00000382656.2 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
DEFB119_chr20_31372164_31395590 | 31390550 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050a0001c0001t0004g0051 | 2 | 370 | 0.0054 | 0 | c.-67 others(3): Show |
DEFB119 | ENSG00000180483.7 | transcript | ENST00000376321.4 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31473020 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02040.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 2 | 362 | 0.0055 | 0 | c.-7C others(2): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
DEFB135_chr8_11977256_11989590 | 11982290 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp2 HG01074.hp1 HG01175.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(11): Show | 71 | 430 | 0.1651 | 0 | c.-31 others(3): Show |
DEFB135 | ENSG00000205883.3 | transcript | ENST00000382208.3 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
DEK_chr6_18218860_18269530 | 18264520 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0339 | 1 | 364 | 0.0028 | 0 | c.-14 others(4): Show |
DEK | ENSG00000124795.17 | transcript | ENST00000652689.1 | protein_coding | 1/11 | chr6 | TogoVar |