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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADM4_chr19_43617368_43644850 | 43635805 | C | CCAGGAGT others(30): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044a0002c0002t0001g0191a0002c0002t0001g0192 | 3 | 424 | 0.0071 | 37 | c.64+ others(52): Show |
CADM4 | ENSG00000105767.3 | transcript | ENST00000222374.3 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122732879 | C | CTATGTAT others(30): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0002g0107a0001c0001t0003g0113a0001c0002t0001g0124others(8): Show | 11 | 126 | 0.0873 | 37 | c.453 others(54): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62599780 | T | TTATATAT others(30): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 160 | 0.0063 | 37 | c.132 others(56): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 NA18968.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191a0002c0002t0001g0192a0002c0002t0001g0219others(1): Show | 4 | 328 | 0.0122 | 37 | c.912 others(54): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 328 | 0.0031 | 37 | c.912 others(54): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 328 | 0.0031 | 37 | c.912 others(54): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19067.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0185a0002c0002t0007g0197 | 2 | 328 | 0.0061 | 37 | c.912 others(54): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48861677 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0004 | a0004c0004t0019 | a0004c0004t0019g0100 | 1 | 328 | 0.0031 | 37 | c.114 others(54): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 11/12 | chr17 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 142 | 0.0070 | 37 | c.244 others(54): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 142 | 0.0070 | 37 | c.244 others(54): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAATAT others(30): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 142 | 0.0070 | 37 | c.244 others(54): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12387397 | T | TATATTAT others(30): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0201 | 1 | 214 | 0.0047 | 37 | c.92+ others(54): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12387445 | T | TTATATAT others(30): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0165 | 1 | 214 | 0.0047 | 37 | c.92+ others(54): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44227049 | G | GTGTGGGG others(30): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02040.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0004a0001c0001t0005a0001c0006t0003others(2): Show | a0001c0001t0004g0148a0001c0001t0005g0129a0001c0001t0005g0130others(8): Show | 11 | 242 | 0.0455 | 37 | c.146 others(54): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227397 | G | GAGGGTCT others(30): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01169.hp1 others(5): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0007a0001c0006t0007 | a0001c0003t0007g0002a0001c0003t0007g0039a0001c0003t0007g0053others(4): Show | 8 | 242 | 0.0331 | 37 | c.146 others(54): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227767 | G | GGAGGGTG others(30): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0098 | 1 | 242 | 0.0041 | 37 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227767 | G | GGAGGGTG others(30): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 242 | 0.0041 | 37 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227768 | G | GAGGGTGT others(30): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 242 | 0.0041 | 37 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227785 | G | GAGGGGGT others(30): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0011 | a0001c0004t0004g0105a0001c0004t0011g0001a0001c0004t0011g0024 | 4 | 242 | 0.0165 | 37 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44324664 | A | AATTTGCA others(30): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0005 | a0005c0016 | a0005c0016t0009 | a0005c0016t0009g0006 | 1 | 242 | 0.0041 | 37 | c.65+ others(50): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868044 | C | CGTGGGCA others(30): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0419 | 1 | 446 | 0.0022 | 37 | c.134 others(56): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121295524 | A | AGTGGTGG others(30): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0308 | 1 | 330 | 0.0030 | 37 | c.-60 others(54): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44410247 | A | AGACTATA others(30): Show |
intron_variant | MODIFIER | HG03579.hp2 HG06807.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0097a0001c0001t0001g0098 | 3 | 198 | 0.0152 | 37 | c.376 others(56): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 340 | 0.0029 | 37 | c.161 others(54): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7139249 | A | ATTATAAA others(30): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0025others(4): Show | a0001c0001t0011g0058a0001c0001t0012g0019a0001c0001t0025g0052others(4): Show | 7 | 58 | 0.1207 | 37 | c.302 others(56): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0054 | 1 | 58 | 0.0172 | 37 | c.438 others(56): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 58 | 0.0172 | 37 | c.438 others(56): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00642.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0003a0003c0002t0003 | a0001c0001t0003g0074a0001c0001t0003g0075a0001c0001t0003g0084others(2): Show | 5 | 380 | 0.0132 | 37 | c.721 others(52): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181449 | T | TCACACAC others(30): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19068.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119a0002c0002t0001g0145 | 2 | 460 | 0.0044 | 37 | c.193 others(54): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181607 | C | CACTCACA others(30): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(34): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0293a0001c0001t0005g0214others(33): Show | 37 | 460 | 0.0804 | 37 | c.193 others(54): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181615 | T | TCACACAC others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0020t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0046a0001c0001t0001g0155others(15): Show | 18 | 460 | 0.0391 | 37 | c.193 others(54): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181744 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | NA19060.hp1 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0324a0002c0002t0001g0342 | 2 | 460 | 0.0044 | 37 | c.193 others(54): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19366314 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0278 | 1 | 364 | 0.0028 | 37 | c.330 others(54): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 364 | 0.0028 | 37 | c.93+ others(52): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10901948 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0304a0001c0001t0006g0227 | 2 | 354 | 0.0057 | 37 | c.221 others(54): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450975 | T | TCCCCTCT others(30): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 186 | 0.0054 | 37 | c.614 others(52): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450980 | T | TCTTCTCT others(30): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02165.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0005a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0001t0005g0147a0001c0003t0002g0010a0001c0003t0004g0092others(2): Show | 5 | 186 | 0.0269 | 37 | c.614 others(52): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459269 | T | TCTTTCTT others(30): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0093 | 1 | 186 | 0.0054 | 37 | c.615 others(54): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25586080 | T | TGGTGGCC others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0008a0001c0001t0015a0001c0002t0008others(1): Show | a0001c0001t0008g0101a0001c0001t0015g0176a0001c0001t0015g0184others(2): Show | 5 | 186 | 0.0269 | 37 | c.300 others(56): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASP4_chr11_104937866_104973574 | 104957242 | G | GTAGTGTT others(30): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 358 | 0.0028 | 37 | c.8-2 others(50): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43638286 | C | CTTTCTTT others(30): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 392 | 0.0026 | 37 | c.842 others(52): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01257.hp2 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0067a0003c0004t0001g0178 | 2 | 336 | 0.0060 | 37 | c.142 others(56): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02895.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0208a0003c0004t0001g0022 | 2 | 336 | 0.0060 | 37 | c.142 others(56): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0031 | a0031c0028 | a0031c0028t0001 | a0031c0028t0001g0130 | 1 | 336 | 0.0030 | 37 | c.150 others(54): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621155 | A | AATCTATA others(30): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 206 | 0.0049 | 37 | c.264 others(56): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0298a0001c0001t0003g0282 | 2 | 342 | 0.0059 | 37 | c.195 others(54): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 298 | 0.0034 | 37 | c.510 others(54): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88961564 | A | AGTAACCG others(30): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 284 | 0.0035 | 37 | c.151 others(56): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88961618 | A | ACTGGGCA others(30): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(39): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(39): Show | 42 | 284 | 0.1479 | 37 | c.151 others(56): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88961660 | G | GCATTCCC others(30): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0263 | 1 | 284 | 0.0035 | 37 | c.151 others(56): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar |