view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAHCC1_chr17_81390457_81471331 | 81426055 | G | GGTGGTGG others(1771): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0050 | a0002c0050t0001 | a0002c0050t0001g0288 | 1 | 297 | 0.0034 | 1778 | c.179 others(1793): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1771): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 30 | 0.0333 | 1778 | c.445 others(1793): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1771): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0055 | 1 | 236 | 0.0042 | 1778 | c.268 others(1797): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478051 | A | AGGGAGGG others(1771): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0047 | 1 | 9 | 0.1111 | 1778 | c.158 others(1795): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(1771): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 123 | 0.0081 | 1778 | c.147 others(1795): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCCGCGGT others(1771): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 123 | 0.0081 | 1778 | c.147 others(1795): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(1771): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0007 | a0007c0021 | a0007c0021t0004 | a0007c0021t0004g0259 | 1 | 113 | 0.0088 | 1778 | c.258 others(1795): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997357 | T | TGGGGACG others(1771): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 354 | 0.0028 | 1778 | c.-21 others(1789): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 313 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1771): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0010 | a0010c0088 | a0010c0088t0003 | a0010c0088t0003g0248 | 1 | 12 | 0.0833 | 1778 | c.228 others(1795): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149432 | C | CGCCGCCT others(1771): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0030 | a0003c0030t0001 | a0003c0030t0001g0072 | 1 | 271 | 0.0037 | 1778 | c.901 others(1793): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1771): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 87 | 0.0115 | 1778 | c.773 others(1793): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1771): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 |
3 | 219 | 0.0137 | 1778 | c.-93 others(1795): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(1771): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 295 | 0.0034 | 1778 | c.189 others(1795): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1771): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 3 | 0.3333 | 1778 | c.411 others(1797): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGCG others(1771): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 146 | 0.0068 | 1778 | c.114 others(1795): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1771): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0006 | 1 | 312 | 0.0032 | 1778 | c.483 others(1793): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ZNF407_chr18_74592870_75070671 | 74617136 | A | ACACCACA others(1771): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0033 a0005c0016t0002g0034 |
2 | 60 | 0.0333 | 1778 | c.-53 others(1797): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1772): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 76 | 0.0132 | 1779 | c.955 others(1796): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 651236 | C | CTGTGAGG others(1772): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015 | 1 | 61 | 0.0164 | 1779 | c.177 others(1798): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65186169 | C | CTGGTTTT others(1772): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0167 | 1 | 187 | 0.0053 | 1779 | c.-10 others(1790): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 828 | chr15 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1772): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 47 | 0.0213 | 1779 | c.338 others(1798): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1772): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0044 |
2 | 211 | 0.0095 | 1779 | c.292 others(1798): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64176074 | C | CCTGTAGC others(1772): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0045 | 1 | 101 | 0.0099 | 1779 | c.-99 others(1798): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | AATACTAT others(1772): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 312 | 0.0032 | 1779 | c.-15 others(1790): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1772): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 5 | 0.2000 | 1779 | c.189 others(1798): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1772): Show |
intron_variant | MODIFIER | HG01346.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0155 |
2 | 6 | 0.3333 | 1779 | c.189 others(1798): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1772): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 5 | 0.2000 | 1779 | c.189 others(1798): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1772): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0009 | 1 | 18 | 0.0556 | 1779 | c.-28 others(1798): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(1772): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01975.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0022a0001c0007t0004 | a0001c0001t0022g0086 a0001c0007t0004g0075 |
2 | 86 | 0.0233 | 1779 | c.79+ others(1796): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1772): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 146 | 0.0068 | 1779 | c.114 others(1796): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1772): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 146 | 0.0068 | 1779 | c.114 others(1796): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1773): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0237 | 1 | 251 | 0.0040 | 1780 | c.955 others(1797): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65186169 | C | CTGGTTTT others(1773): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0166 | 1 | 187 | 0.0053 | 1780 | c.-10 others(1791): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 828 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1773): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0126 | 1 | 117 | 0.0085 | 1780 | c.183 others(1799): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1773): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0039 | a0039c0069 | a0039c0069t0045 | a0039c0069t0045g0057 | 1 | 24 | 0.0417 | 1780 | c.366 others(1799): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1773): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 |
a0006 | a0006c0004 | a0006c0004t0006 | a0006c0004t0006g0060 a0006c0004t0006g0111 |
2 | 25 | 0.0800 | 1780 | c.366 others(1799): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | AATAGTAT others(1773): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 312 | 0.0032 | 1780 | c.-15 others(1791): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1773): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 5 | 0.2000 | 1780 | c.189 others(1799): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGCGT others(1773): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 265 | 0.0038 | 1780 | c.299 others(1795): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(1773): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0127 | 1 | 252 | 0.0040 | 1780 | c.58- others(1797): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1773): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0106 | 1 | 18 | 0.0556 | 1780 | c.-28 others(1799): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1773): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0202 | 1 | 217 | 0.0046 | 1780 | c.-93 others(1797): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(1774): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 181 | 0.0055 | 1781 | c.-37 others(1792): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1774): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0001 | 2 | 77 | 0.0260 | 1781 | c.955 others(1798): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1774): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 250 | 0.0040 | 1781 | c.303 others(1800): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1774): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0007 | a0007c0005 | a0007c0005t0004 | a0007c0005t0004g0056 | 1 | 30 | 0.0333 | 1781 | c.445 others(1796): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1774): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 1781 | c.*31 others(1792): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1774): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 117 | 0.0085 | 1781 | c.183 others(1800): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1774): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 158 | 0.0063 | 1781 | c.126 others(1798): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1774): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 75 | 0.0133 | 1781 | c.*69 others(1792): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar |