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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGAAA others(1225): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 242 | 0.0041 | 1232 | c.927 others(1249): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406479 | T | TTGTCACT others(1225): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 | 1 | 210 | 0.0048 | 1232 | c.*31 others(1243): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 802 | chr2 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1225): Show |
intron_variant | MODIFIER | HG02135.hp1 HG04184.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060a0001c0001t0002g0145a0001c0001t0002g0279others(2): Show | 5 | 326 | 0.0153 | 1232 | c.-13 others(1251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1225): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 326 | 0.0031 | 1232 | c.-13 others(1251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1225): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0058a0001c0001t0001g0247a0001c0001t0001g0250others(47): Show | 50 | 326 | 0.1534 | 1232 | c.-13 others(1251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1225): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 326 | 0.0031 | 1232 | c.-13 others(1251): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1225): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 334 | 0.0030 | 1232 | c.-25 others(1243): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1225): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0048 | a0002c0003t0048g0025 | 1 | 334 | 0.0030 | 1232 | c.-25 others(1243): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1225): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0013 | a0013c0022 | a0013c0022t0002a0013c0022t0051 | a0013c0022t0002g0154a0013c0022t0051g0155 | 2 | 334 | 0.0060 | 1232 | c.-25 others(1243): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065194 | A | ATAGTATT others(1225): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0024 | a0024c0051 | a0024c0051t0002 | a0024c0051t0002g0180 | 1 | 334 | 0.0030 | 1232 | c.-26 others(1243): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2329 | chr11 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939841 | A | AAAGAAGA others(1225): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 258 | 0.0039 | 1232 | c.403 others(1247): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1225): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 276 | 0.0036 | 1232 | c.*51 others(1243): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725423 | A | AGGTGGAT others(1225): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0126a0001c0002t0002g0127a0001c0002t0002g0128others(5): Show | 8 | 324 | 0.0247 | 1232 | c.340 others(1249): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(1225): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0287 | 1 | 324 | 0.0031 | 1232 | c.340 others(1249): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIRAS1_chr19_2709567_2726372 | 2713713 | T | TCACCTCC others(1225): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 412 | 0.0049 | 1232 | c.*34 others(1243): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 853 | chr19 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1225): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0280 | 1 | 358 | 0.0028 | 1232 | c.236 others(1251): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1225): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02027.hp1 HG02071.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0008others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0008t0002others(1): Show | a0001c0001t0001g0150a0003c0003t0001g0098a0003c0003t0001g0195others(4): Show | 7 | 358 | 0.0196 | 1232 | c.236 others(1251): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1225): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0099 | 1 | 358 | 0.0028 | 1232 | c.236 others(1251): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522750 | A | ACCCAGCC others(1225): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0267 | 1 | 358 | 0.0028 | 1232 | c.236 others(1251): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992454 | C | CGGGTGGG others(1225): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119a0002c0002t0001g0120a0002c0002t0001g0231 | 3 | 275 | 0.0109 | 1232 | c.278 others(1251): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(1225): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 | 1 | 394 | 0.0025 | 1232 | c.41- others(1247): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1225): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 397 | 0.0025 | 1232 | c.*14 others(1243): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406479 | T | TTGTCACT others(1225): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0173 | a0001c0001t0173g0193 | 1 | 276 | 0.0036 | 1232 | c.*35 others(1241): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 354 | chr2 | TogoVar | |||||
KIF1A_chr2_240708767_240825219 | 240781503 | C | CCACACAC others(1225): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0009 | a0001c0011t0009g0149 | 1 | 330 | 0.0030 | 1232 | c.882 others(1249): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1225): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0217 | 1 | 242 | 0.0041 | 1232 | c.174 others(1251): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LBP_chr20_38341482_38382013 | 38356149 | C | CACACACC others(1225): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02258.hp1 HG02615.hp1 others(12): Show |
a0004a0015 | a0004c0008a0004c0025a0015c0035 | a0004c0008t0001a0004c0025t0001a0015c0035t0001 | a0004c0008t0001g0001a0004c0008t0001g0268a0004c0008t0001g0269others(4): Show | 15 | 394 | 0.0381 | 1232 | c.588 others(1247): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | chr20 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690475 | T | TATAAATA others(1225): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 326 | 0.0031 | 1232 | c.358 others(1249): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110690475 | T | TATAAATA others(1225): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0174 | 1 | 326 | 0.0031 | 1232 | c.358 others(1249): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149446 | C | CACCACAC others(1225): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0012 | a0012c0033 | a0012c0033t0001 | a0012c0033t0001g0154 | 1 | 294 | 0.0034 | 1232 | c.901 others(1247): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150219 | C | CGCCGCCT others(1225): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 294 | 0.0034 | 1232 | c.902 others(1247): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150277 | C | CACCACAC others(1225): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0004 | a0004c0030 | a0004c0030t0001 | a0004c0030t0001g0287 | 1 | 294 | 0.0034 | 1232 | c.902 others(1247): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(1225): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 294 | 0.0034 | 1232 | c.902 others(1247): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1225): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 326 | 0.0031 | 1232 | c.433 others(1249): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1225): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 312 | 0.0032 | 1232 | c.306 others(1251): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(1225): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0021 | a0011c0021t0073 | a0011c0021t0073g0006 | 1 | 116 | 0.0086 | 1232 | c.199 others(1251): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(1225): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 324 | 0.0031 | 1232 | c.115 others(1249): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1225): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 324 | 0.0031 | 1232 | c.115 others(1249): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1225): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 324 | 0.0031 | 1232 | c.115 others(1249): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1225): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 244 | 0.0041 | 1232 | c.774 others(1249): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC22A1_chr6_160116815_160163718 | 160125879 | C | CGGGGGGG others(1225): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 416 | 0.0024 | 1232 | c.411 others(1249): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SLC22A1_chr6_160116815_160163718 | 160126573 | C | CCCAACAA others(1225): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 416 | 0.0024 | 1232 | c.412 others(1249): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SLC22A1_chr6_160116815_160163718 | 160126717 | G | GTTTCCTG others(1225): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 416 | 0.0024 | 1232 | c.412 others(1249): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1225): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0091 | 1 | 436 | 0.0023 | 1232 | c.*11 others(1251): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1225): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(77): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0004c0015others(2): Show | a0001c0001t0002a0004c0004t0002a0004c0004t0007others(4): Show | a0001c0001t0002g0112a0004c0004t0002g0001a0004c0004t0002g0037others(25): Show | 80 | 436 | 0.1835 | 1232 | c.*11 others(1251): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1225): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18950.hp2 NA18954.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 13 | 360 | 0.0361 | 1232 | c.*24 others(1243): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1225): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 360 | 0.0028 | 1232 | c.*24 others(1243): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1226): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0004 | a0001c0001t0001g0303a0001c0001t0009g0052a0001c0001t0009g0229others(3): Show | 6 | 326 | 0.0184 | 1233 | c.-13 others(1252): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1226): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0016 | a0001c0016t0088 | a0001c0016t0088g0053 | 1 | 322 | 0.0031 | 1233 | c.-23 others(1244): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AAATATAT others(1226): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 208 | 0.0048 | 1233 | c.192 others(1252): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878226 | T | TATATATA others(1226): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 208 | 0.0048 | 1233 | c.192 others(1252): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |