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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(723): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0010 | a0003c0010t0020 | a0003c0010t0020g0078 | 1 | 268 | 0.0037 | 730 | c.258 others(747): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(723): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0118 | 1 | 119 | 0.0084 | 730 | c.258 others(747): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(723): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0027 | 1 | 119 | 0.0084 | 730 | c.258 others(747): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CTCCTCCC others(723): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0029 | 1 | 252 | 0.0040 | 730 | c.*66 others(741): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132172977 | T | TTCCCTCT others(723): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0154 | 1 | 152 | 0.0066 | 730 | c.*11 others(751): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134137929 | A | ATAGTCCC others(723): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01361.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0016 | a0001c0001t0002g0130 a0001c0001t0003g0124 a0001c0001t0016g0128 |
3 | 372 | 0.0081 | 730 | c.77- others(745): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(723): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 730 | c.-27 others(741): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(723): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 | 1 | 6 | 0.1667 | 730 | c.368 others(747): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(723): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0208 | 1 | 8 | 0.1250 | 730 | c.250 others(745): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(723): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG02523.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 a0001c0002t0001g0120 a0001c0002t0001g0126 |
3 | 6 | 0.5000 | 730 | c.114 others(749): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(723): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0124 a0001c0002t0001g0135 |
2 | 5 | 0.4000 | 730 | c.114 others(749): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(723): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0085 | 1 | 156 | 0.0064 | 730 | c.358 others(747): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397703 | G | GGGGGGTG others(723): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 311 | 0.0032 | 730 | c.91+ others(743): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(723): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0271 | 1 | 276 | 0.0036 | 730 | c.195 others(747): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(723): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 205 | 0.0049 | 730 | c.361 others(749): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(723): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 205 | 0.0049 | 730 | c.361 others(749): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(723): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 151 | 0.0066 | 730 | c.361 others(749): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(723): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0092 | 1 | 2 | 0.5000 | 730 | c.162 others(749): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGCT others(723): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 4 | 0.2500 | 730 | c.328 others(749): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(723): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 81 | 0.0123 | 730 | c.132 others(747): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 432986 | T | TAGATGGC others(723): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 190 | 0.0053 | 730 | c.111 others(749): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098446 | C | CTCTGCTC others(723): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0086 | 1 | 107 | 0.0093 | 730 | c.125 others(747): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(723): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 121 | 0.0083 | 730 | c.-78 others(749): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735945 | T | TAGAGTCC others(723): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03225.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0017 | a0001c0001t0002g0035 a0001c0001t0002g0195 a0001c0001t0007g0148 others(1): Show |
4 | 144 | 0.0278 | 730 | c.391 others(749): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(723): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 NA18978.hp1 |
a0001a0006 | a0001c0002a0006c0020 | a0001c0002t0002a0006c0020t0002 | a0001c0002t0002g0260 a0006c0020t0002g0069 |
2 | 83 | 0.0241 | 730 | c.*62 others(741): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(723): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 a0001c0001t0005g0060 |
2 | 265 | 0.0075 | 730 | c.189 others(747): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747959 | A | ACTGGGGT others(723): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0200 | 1 | 284 | 0.0035 | 730 | c.189 others(745): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418721 | T | TCCTTCCC others(723): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0059 | 1 | 86 | 0.0116 | 730 | c.215 others(747): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(723): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 8 | 0.1250 | 730 | c.657 others(745): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(723): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0103 | 1 | 8 | 0.1250 | 730 | c.657 others(745): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2J2_chr1_1248912_1278854 | 1248971 | G | GCGAGGGA others(723): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 254 | 0.0039 | 730 | c.*62 others(741): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4940 | chr1 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(723): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 325 | 0.0031 | 730 | c.-35 others(741): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305337 | A | ACACACAC others(724): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp2 HG02572.hp2 others(1): Show |
a0001a0021a0023 | a0001c0032a0021c0066a0023c0040 | a0001c0032t0001a0001c0032t0038a0021c0066t0002others(1): Show | a0001c0032t0001g0068 a0001c0032t0038g0235 a0021c0066t0002g0264 others(1): Show |
4 | 326 | 0.0123 | 731 | c.318 others(750): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305337 | A | ACACACAC others(724): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0052 | a0001c0052t0006 | a0001c0052t0006g0236 | 1 | 323 | 0.0031 | 731 | c.318 others(750): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(724): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 10 | 0.1000 | 731 | c.*10 others(744): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 5 | 0.2000 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0085 | 1 | 5 | 0.2000 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 5 | 0.2000 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0087 | 1 | 5 | 0.2000 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0212 | 1 | 140 | 0.0071 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 HG01981.hp2 others(11): Show |
a0001a0002a0007 | a0001c0006a0001c0011a0001c0069others(10): Show | a0001c0006t0001a0001c0011t0001a0001c0011t0006others(11): Show | a0001c0006t0001g0009 a0001c0011t0001g0016 a0001c0011t0006g0121 others(11): Show |
14 | 153 | 0.0915 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0007 | a0007c0053 | a0007c0053t0001 | a0007c0053t0001g0014 | 1 | 140 | 0.0071 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0007 | a0007c0053 | a0007c0053t0001 | a0007c0053t0001g0005 | 1 | 140 | 0.0071 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1860455 | T | TCCCTCCT others(724): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02922.hp2 |
a0001a0012 | a0001c0003a0012c0130 | a0001c0003t0026a0012c0130t0061 | a0001c0003t0026g0268 a0012c0130t0061g0342 |
2 | 354 | 0.0056 | 731 | c.481 others(746): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02280.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0032others(3): Show | a0001c0001t0012g0296 a0001c0001t0012g0298 a0001c0001t0013g0302 others(9): Show |
12 | 40 | 0.3000 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0263 | 1 | 29 | 0.0345 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(30): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 others(30): Show |
33 | 61 | 0.5410 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0106 | 1 | 29 | 0.0345 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18982.hp1 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 |
3 | 31 | 0.0968 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130428423 | A | ATCATCAT others(724): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02040.hp2 HG02056.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0253 others(22): Show |
25 | 303 | 0.0825 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar |