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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1L_chr16_27782528_28068714 | 27869114 | GGGTCTCC others(1960): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0023 a0001c0001t0006g0021 a0001c0001t0006g0164 others(2): Show |
5 | 238 | 0.0210 | -1967 | c.550 others(19): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151167036 | CTAGCTAA others(1960): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0148 | 1 | 280 | 0.0036 | -1967 | c.153 others(19): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 7/19 | chr4 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2427950 | GGGACTAC others(1959): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0146 | a0001c0001t0146g0126 | 1 | 342 | 0.0029 | -1966 | c.-77 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 131099 | CGCCATCT others(1959): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0246 | 1 | 280 | 0.0036 | -1966 | c.903 others(17): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44863015 | GGGGTGAC others(1958): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0189 | 1 | 388 | 0.0026 | -1965 | c.*42 others(10): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 232 | chr22 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805560 | TCCCCCCT others(1958): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0214 | 1 | 287 | 0.0035 | -1965 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1274 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805560 | TCCCCCCT others(1958): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 297 | 0.0034 | -1965 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3632 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78880988 | TATGCTGT others(1958): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 24 | 0.0417 | -1965 | c.227 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTMR3_chr22_29878174_30035868 | 29939622 | CTTTCTAT others(1957): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0227 | 1 | 332 | 0.0030 | -1964 | c.-13 others(21): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ZNF814_chr19_57864381_57894037 | 57883241 | CCAGCTAC others(1957): Show |
C | intron_variant | MODIFIER | NA18984.hp1 NA19072.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 2 | 432 | 0.0046 | -1964 | c.36+ others(15): Show |
ZNF814 | ENSG00000204514.11 | transcript | ENST00000435989.7 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
PKN2_chr1_88679273_88841255 | 88792180 | GGATCACC others(1956): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 328 | 0.0030 | -1963 | c.128 others(19): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15931925 | GAGAGGAA others(1953): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0024 | a0003c0024t0020 | a0003c0024t0020g0182 | 1 | 357 | 0.0028 | -1960 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92423134 | GCCACCGC others(1953): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01358.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0097 others(12): Show |
15 | 154 | 0.0974 | -1960 | c.334 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83936231 | CATTTGTT others(1952): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02809.hp2 others(4): Show |
a0001a0002a0014others(3): Show | a0001c0001a0002c0039a0002c0060others(4): Show | a0001c0001t0001a0002c0039t0001a0002c0060t0001others(4): Show | a0001c0001t0001g0053 a0002c0039t0001g0058 a0002c0060t0001g0245 others(4): Show |
7 | 272 | 0.0257 | -1959 | c.211 others(19): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19248068 | AGGCAGAT others(1950): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0231 | 1 | 344 | 0.0029 | -1957 | c.519 others(17): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 3/32 | chr22 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89173814 | CGCATTTT others(1948): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 304 | 0.0033 | -1955 | c.-41 others(11): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 4060 | chr11 | TogoVar | |||||||
ZNF322_chr6_26629383_26664746 | 26656483 | CAAAACCC others(1948): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA18954.hp2 NA18961.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 a0001c0001t0005g0149 a0001c0001t0005g0150 others(3): Show |
10 | 370 | 0.0270 | -1955 | c.-24 others(18): Show |
ZNF322 | ENSG00000181315.11 | transcript | ENST00000415922.7 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1535430 | TCCCCAAA others(1947): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0002g0038 others(1): Show |
4 | 128 | 0.0313 | -1954 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7043226 | CAACTTAG others(1946): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 262 | 0.0038 | -1953 | c.-50 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 3048 | chr19 | TogoVar | |||||||
RIPK1_chr6_3063494_3120187 | 3090743 | TGCACCTA others(1946): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 | 1 | 310 | 0.0032 | -1953 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3092159 | GCCTACCT others(1946): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 338 | 0.0030 | -1953 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1013735 | GTGTGTGT others(1944): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 40 | 0.0250 | -1951 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34465707 | TATGTTAA others(1944): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0027 a0001c0001t0006g0030 |
2 | 98 | 0.0204 | -1951 | c.582 others(17): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1943): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0073 | 1 | 358 | 0.0028 | -1950 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR47_chr1_108965214_109047102 | 109030609 | CTTCCAAG others(1942): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00639.hp1 others(96): Show |
a0001a0004a0005 | a0001c0001a0004c0009a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(94): Show |
99 | 342 | 0.2895 | -1949 | c.-9- others(15): Show |
WDR47 | ENSG00000085433.17 | transcript | ENST00000369962.8 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565424 | ACTCTGTC others(1941): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0175 | 1 | 304 | 0.0033 | -1948 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235589 | CCCCTCTG others(1940): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 103 | 0.0097 | -1947 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
BCL9_chr1_147536501_147631216 | 147570826 | GGTTTCTC others(1938): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 314 | 0.0032 | -1945 | c.-47 others(21): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181578466 | ATTTTTAT others(1937): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0013 | a0001c0001t0013g0260 a0001c0002t0013g0137 |
2 | 296 | 0.0068 | -1944 | c.482 others(17): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565310 | TGTCTGTG others(1937): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 316 | 0.0032 | -1944 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DCTN5_chr16_23636466_23682472 | 23643248 | GTGGCCCC others(1936): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 4 | 312 | 0.0128 | -1943 | c.117 others(16): Show |
DCTN5 | ENSG00000166847.10 | transcript | ENST00000300087.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23643248 | GTGGCCCC others(1936): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0196 others(1): Show |
4 | 324 | 0.0123 | -1943 | c.-40 others(11): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 1939 | chr16 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2280332 | GAGGAGGA others(1935): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0007 | 1 | 42 | 0.0238 | -1942 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 402001 | AGCATTAG others(1934): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 a0001c0003t0002g0060 |
2 | 88 | 0.0227 | -1941 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65972197 | CACCCTTG others(1934): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0007a0005c0006t0015others(1): Show | a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0027 others(9): Show |
12 | 304 | 0.0395 | -1941 | c.-57 others(19): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113984173 | CACTCACC others(1934): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 a0001c0001t0006g0013 |
2 | 66 | 0.0303 | -1941 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119678407 | CTCCAACC others(1932): Show |
C | downstream_gene_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0075 | 1 | 418 | 0.0024 | -1939 | c.*11 others(11): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 589 | chr10 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55407113 | CTGAGGTA others(1932): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 314 | 0.0032 | -1939 | c.164 others(18): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 2/32 | chr2 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129660224 | ATTATGAG others(1932): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01943.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(5): Show |
8 | 382 | 0.0209 | -1939 | c.223 others(17): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190340695 | GAACCTTT others(1930): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 238 | 0.0042 | -1937 | c.237 others(19): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2280359 | AAGAGAGA others(1930): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 48 | 0.0208 | -1937 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2280406 | GGGAGAGA others(1930): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0027 | 1 | 48 | 0.0208 | -1937 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106599365 | CCTGTGTC others(1930): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 394 | 0.0025 | -1937 | c.669 others(17): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
CXCL9_chr4_75996275_76012509 | 76010573 | AGACCGGG others(1929): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 434 | 0.0023 | -1936 | c.-50 others(11): Show |
CXCL9 | ENSG00000138755.6 | transcript | ENST00000264888.6 | protein_coding | 3065 | chr4 | TogoVar | |||||||
EMC3_chr3_9957682_9991841 | 9980228 | GGTCTCGA others(1929): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 320 | 0.0031 | -1936 | c.155 others(17): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70136446 | CCTCGCCT others(1928): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0091 a0001c0002t0001g0042 a0001c0002t0001g0064 others(27): Show |
30 | 300 | 0.1000 | -1935 | c.125 others(19): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1928): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0037 | a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0037g0315 |
3 | 312 | 0.0096 | -1935 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1928): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0065 | a0001c0001t0008g0274 a0001c0001t0065g0095 |
2 | 340 | 0.0059 | -1935 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75565843 | TGCCTCAG others(1927): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02922.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0023a0001c0001t0030others(5): Show | a0001c0001t0004g0021 a0001c0001t0023g0253 a0001c0001t0030g0234 others(6): Show |
9 | 252 | 0.0357 | -1934 | c.803 others(16): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 9/30 | chr7 | TogoVar | |||||||
ARMC2_chr6_108843422_108979476 | 108930846 | TGGCCTCC others(1926): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0132 |
3 | 288 | 0.0104 | -1933 | c.149 others(19): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |