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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CUX1_chr7_101812626_102263233 | 101984122 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02056.hp2 HG02300.hp1 others(8): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0009others(1): Show | a0001c0003t0009a0001c0003t0035a0001c0004t0007others(7): Show | a0001c0003t0009g0103a0001c0003t0035g0123a0001c0004t0007g0131others(8): Show | 11 | 136 | 0.0809 | -28 | c.142 others(47): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CUX2_chr12_111029165_111355554 | 111330686 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp2 |
a0001 | a0001c0004a0001c0022 | a0001c0004t0005a0001c0022t0005 | a0001c0004t0005g0007a0001c0022t0005g0034 | 2 | 100 | 0.0200 | -28 | c.292 others(47): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CUZD1_chr10_122827158_122850857 | 122827235 | TATGACTG others(21): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(107): Show |
a0001a0006a0009 | a0001c0001a0006c0007a0009c0014 | a0001c0001t0001a0006c0007t0001a0009c0014t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(27): Show | 110 | 422 | 0.2607 | -28 | c.*50 others(39): Show |
CUZD1 | ENSG00000138161.14 | transcript | ENST00000392790.6 | protein_coding | 4922 | chr10 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64840376 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02165.hp2 HG02559.hp2 HG02965.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0002 | a0001c0003t0001g0240a0002c0004t0002g0005a0002c0004t0002g0006 | 3 | 260 | 0.0115 | -28 | c.938 others(47): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CWC27_chr5_64763930_65023750 | 64840384 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG03540.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0001 | a0002c0002t0002g0259a0002c0004t0001g0173 | 2 | 260 | 0.0077 | -28 | c.938 others(47): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CWC27_chr5_64763930_65023750 | 64840386 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001a0002c0004t0002g0168 | 2 | 260 | 0.0077 | -28 | c.938 others(47): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CWF19L2_chr11_107321360_107462825 | 107442735 | AAAGGAAG others(21): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0124 | 1 | 392 | 0.0026 | -28 | c.450 others(43): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
CWF19L2_chr11_107321360_107462825 | 107442772 | AAGGAAGG others(21): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0363 | 1 | 392 | 0.0026 | -28 | c.450 others(43): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
CWF19L2_chr11_107321360_107462825 | 107442776 | AAGGAAGG others(21): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0365a0002c0002t0003g0366 | 2 | 392 | 0.0051 | -28 | c.450 others(43): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
CWF19L2_chr11_107321360_107462825 | 107442780 | AAGGAAGG others(21): Show |
A | intron_variant | MODIFIER | HG01109.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0371a0001c0001t0005g0372 | 2 | 392 | 0.0051 | -28 | c.450 others(43): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 4/17 | chr11 | TogoVar | ||||||
CX3CR1_chr3_39258496_39285036 | 39283795 | TTATATAT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 3 | 420 | 0.0071 | -28 | c.-38 others(39): Show |
CX3CR1 | ENSG00000168329.14 | transcript | ENST00000399220.3 | protein_coding | 3760 | chr3 | TogoVar | ||||||
CXCL1_chr4_73864393_73876308 | 73867737 | TATATATA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG06807.hp1 NA18977.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0003a0001c0002t0001g0004a0001c0002t0002g0001 | 6 | 448 | 0.0134 | -28 | c.-17 others(39): Show |
CXCL1 | ENSG00000163739.5 | transcript | ENST00000395761.4 | protein_coding | 1655 | chr4 | TogoVar | ||||||
CXorf38_chrX_40621921_40652561 | 40649474 | GGTTAAAT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0168 | 1 | 304 | 0.0033 | -28 | c.-19 others(39): Show |
CXorf38 | ENSG00000185753.13 | transcript | ENST00000327877.10 | protein_coding | 1914 | chrX | TogoVar | ||||||
CXorf49B_chrX_71758349_71772204 | 71759400 | GTGCACAT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 95 | 0.0105 | -28 | c.-40 others(39): Show |
CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3948 | chrX | TogoVar | ||||||
CYB5A_chr18_74245846_74296963 | 74250293 | ACCAGGTG others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0001g0185a0001c0001t0001g0296a0001c0001t0003g0073others(42): Show | 57 | 396 | 0.1439 | -28 | c.*32 others(39): Show |
CYB5A | ENSG00000166347.19 | transcript | ENST00000340533.9 | protein_coding | 552 | chr18 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22964353 | TCACACAC others(21): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG02451.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004others(2): Show | a0001c0002t0012a0002c0003t0007a0002c0004t0005others(2): Show | a0001c0002t0012g0267a0002c0003t0007g0264a0002c0004t0005g0265others(2): Show | 5 | 342 | 0.0146 | -28 | c.-7+ others(45): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
CYLD_chr16_50737086_50806935 | 50755145 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0180 | 1 | 302 | 0.0033 | -28 | c.913 others(43): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CYP1A1_chr15_74714542_74730528 | 74715129 | TTATATAT others(21): Show |
T | downstream_gene_variant | MODIFIER | NA18965.hp1 NA19086.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0002c0002t0001g0003 | 2 | 434 | 0.0046 | -28 | c.*53 others(39): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 4412 | chr15 | TogoVar | ||||||
CYP24A1_chr20_54148446_54178986 | 54168846 | TCTTCCTT others(21): Show |
T | intron_variant | MODIFIER | NA18953.hp1 NA18953.hp2 NA18993.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0174a0001c0001t0003g0176a0001c0003t0001g0175 | 3 | 456 | 0.0066 | -28 | c.640 others(43): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 4/11 | chr20 | TogoVar | ||||||
CYP27A1_chr2_218777147_218820293 | 218778348 | CTTTTTTT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01109.hp2 others(29): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0002t0001a0005c0008t0001 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0028others(24): Show | 32 | 298 | 0.1074 | -28 | c.-38 others(39): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 3798 | chr2 | TogoVar | ||||||
CYP2A13_chr19_41083451_41101195 | 41089804 | GTCTCTCT others(21): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01099.hp2 others(21): Show |
a0001a0002a0010others(2): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(5): Show | a0001c0001t0001g0082a0001c0001t0001g0084a0001c0001t0002g0087others(8): Show | 24 | 422 | 0.0569 | -28 | c.344 others(43): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP2A7_chr19_40870439_40887231 | 40880798 | GGAGAGAG others(21): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0130 | 1 | 398 | 0.0025 | -28 | c.344 others(43): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
CYP2C19_chr10_94757681_94860547 | 94851443 | CAAATAAA others(21): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0012 | a0012c0016 | a0012c0016t0018 | a0012c0016t0018g0330 | 1 | 364 | 0.0028 | -28 | c.129 others(47): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CYP2E1_chr10_133522363_133544123 | 133542660 | TTTCTTTC others(21): Show |
T | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0014 | 1 | 414 | 0.0024 | -28 | c.*36 others(39): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 3538 | chr10 | TogoVar | ||||||
CYP2F1_chr19_41109432_41133381 | 41122503 | TACATACA others(21): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0012 | a0012c0024 | a0012c0024t0002 | a0012c0024t0002g0150 | 1 | 374 | 0.0027 | -28 | c.823 others(43): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP2S1_chr19_41188219_41212539 | 41205325 | CCTTTCTT others(21): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 HG01928.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0017others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0004t0006others(2): Show | a0001c0001t0002g0035a0001c0001t0002g0037a0001c0001t0002g0108others(10): Show | 17 | 422 | 0.0403 | -28 | c.116 others(45): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP39A1_chr6_46544580_46657818 | 46564090 | TTTTATTT others(21): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03831.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0010c0011t0001 | a0001c0001t0001g0052a0001c0001t0001g0055a0001c0001t0001g0290others(1): Show | 4 | 310 | 0.0129 | -28 | c.125 others(49): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
CYP39A1_chr6_46544580_46657818 | 46616192 | TTCCCTCC others(21): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0020 | 1 | 310 | 0.0032 | -28 | c.931 others(45): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15921054 | GTCTCTCT others(21): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
a0001a0002a0005others(4): Show | a0001c0004a0001c0005a0001c0006others(11): Show | a0001c0004t0002a0001c0004t0023a0001c0004t0025others(103): Show | a0001c0004t0002g0019a0001c0004t0002g0020a0001c0004t0002g0021others(180): Show | 184 | 386 | 0.4767 | -28 | c.111 others(45): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
CYP4F22_chr19_15503525_15557317 | 15547992 | AGAGGGAG others(21): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0009 | 1 | 384 | 0.0026 | -28 | c.113 others(44): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYP4X1_chr1_47018669_47055751 | 47053958 | ATTGCTTT others(21): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 350 | 0.0029 | -28 | c.*37 others(39): Show |
CYP4X1 | ENSG00000186377.8 | transcript | ENST00000371901.4 | protein_coding | 3208 | chr1 | TogoVar | ||||||
CYP4Z1_chr1_47062231_47123318 | 47106267 | AAAACTTT others(21): Show |
A | splice_region_variant others(1): Show |
LOW | NA18975.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0153 | 1 | 318 | 0.0031 | -28 | c.120 others(42): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYP7B1_chr8_64585851_64803737 | 64622138 | ATGCATAA others(21): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0023a0001c0001t0013g0022 | 2 | 258 | 0.0078 | -28 | c.259 others(45): Show |
CYP7B1 | ENSG00000172817.4 | transcript | ENST00000310193.4 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
CYRIA_chr2_16544459_16670834 | 16610897 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0159 | 1 | 290 | 0.0035 | -28 | c.-11 others(47): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
CYTH3_chr7_6156779_6277624 | 6177693 | GTGGATGC others(21): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0210 | 1 | 348 | 0.0029 | -28 | c.368 others(43): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
CYTH3_chr7_6156779_6277624 | 6259757 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0047 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0020others(12): Show | 15 | 348 | 0.0431 | -28 | c.34+ others(45): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CYTIP_chr2_157409619_157449089 | 157434847 | TCTCACAC others(21): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 320 | 0.0031 | -28 | c.175 others(43): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
CYYR1_chr21_26461216_26578286 | 26476585 | CATCTATC others(21): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 316 | 0.0032 | -28 | c.334 others(45): Show |
CYYR1 | ENSG00000166265.13 | transcript | ENST00000652641.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
DAB1_chr1_56989778_57429060 | 57273541 | GCCTGCCT others(21): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0085 | 1 | 138 | 0.0073 | -28 | c.67+ others(45): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
DAB1_chr1_56989778_57429060 | 57273592 | TTCCTTCC others(21): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0048others(38): Show | 41 | 138 | 0.2971 | -28 | c.67+ others(45): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
DAB1_chr1_56989778_57429060 | 57273596 | TTCCTTCC others(21): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0023a0001c0001t0002g0024a0001c0001t0002g0029others(5): Show | 8 | 138 | 0.0580 | -28 | c.67+ others(45): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
DAB1_chr1_56989778_57429060 | 57355873 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0048others(54): Show | 57 | 138 | 0.4130 | -28 | c.-13 others(49): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71496261 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0060 | 1 | 102 | 0.0098 | -28 | c.157 others(47): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71748878 | CTTTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03486.hp1 NA19030.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0002 | a0002c0002t0001g0096a0002c0002t0002g0073a0003c0003t0002g0002 | 3 | 102 | 0.0294 | -28 | c.849 others(47): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71748886 | CTTTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03130.hp2 HG03471.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002a0003c0003t0005 | a0002c0002t0001g0071a0003c0003t0002g0007a0003c0003t0005g0004 | 3 | 102 | 0.0294 | -28 | c.849 others(47): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71748890 | CTTTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0004 | a0001c0001t0002g0013a0002c0002t0002g0063a0002c0002t0004g0064 | 3 | 102 | 0.0294 | -28 | c.849 others(47): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71778092 | CAATAAAT others(21): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 102 | 0.0098 | -28 | c.848 others(47): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86205450 | CTCCCTCC others(21): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 166 | 0.0060 | -28 | c.488 others(47): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86205458 | CTCCCTCC others(21): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0122 | 2 | 166 | 0.0121 | -28 | c.488 others(47): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DACH2_chrX_86143451_86837602 | 86667525 | GAAAGAAA others(21): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0113 | 2 | 166 | 0.0121 | -28 | c.772 others(47): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar |