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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(860): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02132.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0002t0002a0001c0006t0033 | a0001c0001t0006g0212 a0001c0002t0002g0202 a0001c0006t0033g0201 |
3 | 271 | 0.0111 | 867 | c.126 others(886): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(860): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0045 | 1 | 19 | 0.0526 | 867 | c.24+ others(884): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(860): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 19 | 0.0526 | 867 | c.24+ others(884): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114113618 | C | CGGCGAGT others(860): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 22 | 0.0455 | 867 | c.55+ others(884): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(860): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 174 | 0.0057 | 867 | c.66+ others(882): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8502129 | T | TGCCCGGC others(860): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0013 | a0005c0013t0021 | a0005c0013t0021g0022 | 1 | 5 | 0.2000 | 867 | c.880 others(884): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(860): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0025 | a0025c0081 | a0025c0081t0008 | a0025c0081t0008g0075 | 1 | 48 | 0.0208 | 867 | c.199 others(886): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977260 | C | CCACGCAG others(860): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0021 | a0021c0068 | a0021c0068t0014 | a0021c0068t0014g0014 | 1 | 96 | 0.0104 | 867 | c.199 others(886): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977260 | C | CCACGCAG others(860): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0013 | a0013c0070 | a0013c0070t0026 | a0013c0070t0026g0112 | 1 | 96 | 0.0104 | 867 | c.199 others(886): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(860): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 166 | 0.0060 | 867 | c.115 others(884): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(860): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 166 | 0.0060 | 867 | c.115 others(884): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(860): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 158 | 0.0063 | 867 | c.626 others(884): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(860): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 | 1 | 31 | 0.0323 | 867 | c.638 others(882): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(860): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0024 a0001c0001t0005g0107 a0001c0001t0009g0025 others(1): Show |
4 | 34 | 0.1176 | 867 | c.638 others(882): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(860): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0002g0014 |
2 | 32 | 0.0625 | 867 | c.638 others(882): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930619 | C | CTGGGGTT others(860): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 393 | 0.0025 | 867 | c.*49 others(878): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4750 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347271 | C | CTGGACCA others(860): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0184 | 1 | 189 | 0.0053 | 867 | c.204 others(888): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(860): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 118 | 0.0085 | 867 | c.204 others(888): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(860): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0016 | a0001c0016t0025 | a0001c0016t0025g0135 | 1 | 98 | 0.0102 | 867 | c.41- others(884): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(860): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 87 | 0.0115 | 867 | c.41- others(884): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(860): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 455 | 0.0022 | 867 | c.-6- others(882): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 510299 | C | CCGACCCC others(860): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0084a0001c0001t0092others(5): Show | a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 others(7): Show |
10 | 193 | 0.0518 | 867 | c.*88 others(878): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 8828 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 510299 | C | CCGACCCC others(860): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0085a0001c0001t0094 | a0001c0001t0032g0150 a0001c0001t0032g0151 a0001c0001t0085g0152 others(1): Show |
4 | 187 | 0.0214 | 867 | c.*88 others(878): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 8828 | chr17 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(860): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 100 | 0.0100 | 867 | c.-10 others(884): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(860): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 35 | 0.0286 | 867 | c.-28 others(886): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(861): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0014 | a0003c0014t0006 | a0003c0014t0006g0197 | 1 | 153 | 0.0065 | 868 | c.130 others(887): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(861): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 27 | 0.0370 | 868 | c.94+ others(883): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758264 | C | CCACCTGC others(861): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0236 | 1 | 232 | 0.0043 | 868 | c.655 others(887): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(861): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0007 | a0007c0070 | a0007c0070t0001 | a0007c0070t0001g0218 | 1 | 170 | 0.0059 | 868 | c.654 others(887): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(861): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 232 | 0.0043 | 868 | c.202 others(885): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(861): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18951.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 |
3 | 234 | 0.0128 | 868 | c.202 others(885): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404897 | G | GGGGGGAA others(861): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 286 | 0.0035 | 868 | c.*21 others(879): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 547 | chr19 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 a0001c0001t0011g0017 |
2 | 51 | 0.0392 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03669.hp1 NA18945.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0064 a0001c0001t0004g0134 a0001c0001t0005g0137 others(6): Show |
9 | 58 | 0.1552 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0145 | 1 | 50 | 0.0200 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0006 | 1 | 50 | 0.0200 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0015 a0001c0001t0002g0003 a0001c0001t0002g0193 others(22): Show |
25 | 74 | 0.3378 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(861): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 50 | 0.0200 | 868 | c.92+ others(885): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133445 | A | ATGGTGGC others(861): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0009a0001c0001t0018a0001c0003t0009others(4): Show | a0001c0001t0009g0372 a0001c0001t0018g0370 a0001c0003t0009g0371 others(4): Show |
7 | 380 | 0.0184 | 868 | c.82+ others(885): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133445 | A | ATGGTGGC others(861): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 374 | 0.0027 | 868 | c.82+ others(885): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(861): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0066 others(100): Show |
103 | 354 | 0.2910 | 868 | c.82+ others(885): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(861): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0011 | a0006c0011t0015 | a0006c0011t0015g0156 | 1 | 252 | 0.0040 | 868 | c.82+ others(885): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133484 | C | CGAGGCGG others(861): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02572.hp2 HG03195.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0004c0009others(1): Show | a0001c0003t0006a0002c0002t0009a0004c0009t0007others(1): Show | a0001c0003t0006g0182 a0001c0003t0006g0183 a0002c0002t0009g0181 others(2): Show |
5 | 382 | 0.0131 | 868 | c.82+ others(885): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333643 | G | GGACTACT others(861): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0201 |
3 | 336 | 0.0089 | 868 | c.891 others(883): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(861): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0213 | 1 | 2 | 0.5000 | 868 | c.162 others(889): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0005 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0208 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0133 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03225.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0003a0001c0005t0002a0002c0003t0002 | a0001c0001t0003g0119 a0001c0005t0002g0120 a0002c0003t0002g0121 |
3 | 145 | 0.0207 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar |