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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF365_chr10_62369369_62407450 | 62371269 | C | CATATATA others(199): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 2 | 350 | 0.0057 | 206 | c.-32 others(217): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3099 | chr10 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62371269 | C | CATATATA others(199): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 350 | 0.0029 | 206 | c.-32 others(217): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3099 | chr10 | TogoVar | ||||||
ZNF430_chr19_21015657_21065050 | 21019661 | A | AATATATA others(199): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 298 | 0.0034 | 206 | c.-11 others(217): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 995 | chr19 | TogoVar | ||||||
ZNF732_chr4_265675_310474 | 299343 | G | GTATATAT others(199): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0247 | 1 | 326 | 0.0031 | 206 | c.4-3 others(219): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89147208 | A | AGAGGAGG others(200): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0199 | 1 | 368 | 0.0027 | 207 | c.161 others(226): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147208 | A | AGAGGAGG others(200): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 368 | 0.0027 | 207 | c.161 others(226): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736581 | A | AAGGGGCG others(200): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0095 | 1 | 314 | 0.0032 | 207 | c.*71 others(218): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4993 | chr19 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305089 | C | CCCATCCC others(200): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0011 | a0011c0028 | a0011c0028t0035 | a0011c0028t0035g0157 | 1 | 332 | 0.0030 | 207 | c.318 others(226): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1340977 | G | GCGGCAAT others(200): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0030 | 1 | 106 | 0.0094 | 207 | c.107 others(228): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131046596 | T | TCCTCCCT others(200): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(8): Show | a0001c0002t0001g0223a0001c0003t0001g0152a0001c0003t0004g0207others(9): Show | 12 | 242 | 0.0496 | 207 | c.147 others(228): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AFAP1_chr4_7753714_7944861 | 7919007 | C | CCAGATGA others(200): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 318 | 0.0031 | 207 | c.-3+ others(224): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129331679 | T | TAAAAATA others(200): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0208 | 1 | 292 | 0.0034 | 207 | c.364 others(226): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596855 | T | TCCTCCTA others(200): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19067.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001a0001c0005t0006 | a0001c0004t0001g0008a0001c0005t0001g0060a0001c0005t0001g0061others(1): Show | 4 | 151 | 0.0265 | 207 | c.911 others(224): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596892 | G | GTCCCTCC others(200): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0055 | 1 | 151 | 0.0066 | 207 | c.911 others(224): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56406096 | A | AGGGGGAG others(200): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0232 | 1 | 356 | 0.0028 | 207 | c.667 others(222): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1824808 | T | TCCCCCCG others(200): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0124 | a0002c0124t0013 | a0002c0124t0013g0088 | 1 | 363 | 0.0028 | 207 | c.-48 others(222): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1955098 | A | ATGGGTAG others(200): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0306 | 1 | 363 | 0.0028 | 207 | c.352 others(226): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(200): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 264 | 0.0038 | 207 | c.102 others(224): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130049797 | G | GGAACACA others(200): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 308 | 0.0033 | 207 | c.*49 others(218): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2306 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130050178 | T | TGGGGGCA others(200): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 1 | 308 | 0.0033 | 207 | c.*45 others(218): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1925 | chr8 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1610077 | G | GTCCCCTA others(200): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG03704.hp2 NA18977.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0002 | a0001c0001t0002g0195a0001c0003t0002g0155a0002c0002t0002g0199 | 3 | 223 | 0.0135 | 207 | c.-51 others(218): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4981 | chrX | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAAG others(200): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 464 | 0.0022 | 207 | c.*42 others(218): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52674205 | T | TAAGACCA others(200): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0117 | 1 | 362 | 0.0028 | 207 | c.16+ others(222): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112715448 | T | TCCCCACA others(200): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0177 | 1 | 254 | 0.0039 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112715448 | T | TCCCCACA others(200): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(192): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(98): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(192): Show | 195 | 254 | 0.7677 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(200): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0077 | 1 | 254 | 0.0039 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A3_chr3_194397677_194492002 | 194421153 | A | ATAGTTTA others(200): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024a0001c0001t0004g0025 | 2 | 304 | 0.0066 | 207 | c.331 others(226): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(200): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 391 | 0.0026 | 207 | c.*36 others(218): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 298 | 0.0034 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 298 | 0.0034 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0292 | 1 | 298 | 0.0034 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0253 | 1 | 298 | 0.0034 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467315 | A | ATGGTGGT others(200): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0017 | 1 | 262 | 0.0038 | 207 | c.487 others(224): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467318 | G | GTGGTGAT others(200): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 262 | 0.0038 | 207 | c.487 others(224): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15271909 | T | TACACACC others(200): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03130.hp2 |
a0001 | a0001c0004 | a0001c0004t0024a0001c0004t0043 | a0001c0004t0024g0038a0001c0004t0024g0040a0001c0004t0043g0026 | 3 | 208 | 0.0144 | 207 | c.285 others(222): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 2/19 | chr19 | TogoVar | ||||||
C17orf67_chr17_56786913_56838920 | 56792891 | A | ATGGTGAT others(200): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01123.hp1 others(41): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0005a0003c0003t0016 | a0002c0002t0002g0008a0002c0002t0002g0011a0002c0002t0002g0012others(28): Show | 44 | 292 | 0.1507 | 207 | c.*21 others(222): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1089920 | T | TAAAAATA others(200): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18906.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0007a0005c0007t0008 | a0001c0001t0007g0161a0001c0001t0007g0162a0005c0007t0008g0164 | 3 | 326 | 0.0092 | 207 | c.129 others(226): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62398076 | G | GTGGAGGT others(200): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0057 | 1 | 400 | 0.0025 | 207 | c.363 others(224): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | NA20805.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0054a0001c0002t0002g0051 | 2 | 126 | 0.0159 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0056 | 1 | 126 | 0.0079 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 126 | 0.0079 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736581 | A | AAGGGGCG others(200): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0031 | 1 | 342 | 0.0029 | 207 | c.136 others(222): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(200): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 410 | 0.0024 | 207 | c.-22 others(224): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGAAGGG others(200): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 364 | 0.0028 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AGGAAGGG others(200): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 364 | 0.0028 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GAGAAGAA others(200): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0056 | 1 | 364 | 0.0028 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GGGAAGGG others(200): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216 | 1 | 364 | 0.0028 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88980056 | A | ATGGGTGG others(200): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(104): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(104): Show | 107 | 284 | 0.3768 | 207 | c.-32 others(218): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2850 | chr16 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(200): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0033 | 1 | 256 | 0.0039 | 207 | c.-45 others(228): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH13_chr16_82621969_83805640 | 83031167 | T | TATATACA others(200): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0002g0089a0001c0001t0003g0042a0001c0002t0002g0032others(6): Show | 9 | 110 | 0.0818 | 207 | c.158 others(222): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |