| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC6A12_chr12_185081_219157 | 216161 | TCTGGAGG others(183): Show |
T | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317a0001c0001t0002g0319 | 2 | 420 | 0.0048 | -190 | c.-25 others(11): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 2005 | chr12 | TogoVar | ||||||
| SLC6A13_chr12_215622_267836 | 216054 | AGTTAGTA others(183): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0111 | 1 | 442 | 0.0023 | -190 | c.*47 others(11): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4567 | chr12 | TogoVar | ||||||
| SLC6A13_chr12_215622_267836 | 216161 | TCTGGAGG others(183): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0045 | 2 | 442 | 0.0045 | -190 | c.*45 others(11): Show |
SLC6A13 | ENSG00000010379.16 | transcript | ENST00000343164.9 | protein_coding | 4460 | chr12 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245962663 | ACAGAGAC others(183): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01081.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0054others(13): Show | 16 | 150 | 0.1067 | -190 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1221867 | CTCTCTCT others(183): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0006a0011 | a0006c0009a0011c0018 | a0006c0009t0001a0011c0018t0001 | a0006c0009t0001g0049a0011c0018t0001g0045 | 2 | 190 | 0.0105 | -190 | c.719 others(19): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SORCS3_chr10_104636290_105270242 | 105091273 | TTCCTTCC others(183): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0124a0001c0002t0002g0053 | 2 | 134 | 0.0149 | -190 | c.109 others(19): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SPON1_chr11_13957723_14273133 | 14160459 | ATATATAT others(183): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0163a0001c0001t0004g0223others(4): Show | 7 | 224 | 0.0313 | -190 | c.825 others(19): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SRBD1_chr2_45383680_45616267 | 45414931 | ACAGTGTT others(183): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0191a0001c0001t0001g0192others(6): Show | 9 | 358 | 0.0251 | -190 | c.233 others(19): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
| STXBP5L_chr3_120903205_121429761 | 121127041 | ATTAGAGT others(183): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0143 | 2 | 290 | 0.0069 | -190 | c.669 others(17): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48497941 | CGGGGCTG others(183): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 258 | 0.0039 | -190 | c.112 others(17): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| THOC1_chr18_209520_273047 | 219077 | AAAAATAA others(183): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 376 | 0.0053 | -190 | c.137 others(17): Show |
THOC1 | ENSG00000079134.13 | transcript | ENST00000261600.11 | protein_coding | 17/20 | chr18 | TogoVar | ||||||
| TMC6_chr17_78102397_78133755 | 78115656 | CAGGGGCG others(183): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0208 | 1 | 444 | 0.0023 | -190 | c.227 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129089095 | GGGGTGTC others(183): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG03041.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0008a0001c0001t0004g0070a0001c0001t0006g0007others(4): Show | 7 | 94 | 0.0745 | -190 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| TMEM185A_chrX_149591556_149636792 | 149605281 | ATGTCACT others(183): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0044 | 1 | 259 | 0.0039 | -190 | c.424 others(17): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | ||||||
| TMEM87B_chr2_112050269_112124314 | 112113787 | TGTAGCAT others(183): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0016 | 1 | 316 | 0.0032 | -190 | c.160 others(18): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM87B_chr2_112050269_112124314 | 112114788 | AAAGATTC others(183): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0111a0002c0002t0004g0115 | 2 | 316 | 0.0063 | -190 | c.160 others(19): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TOX_chr8_58800412_59124147 | 58949858 | TTTCATAT others(183): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 224 | 0.0045 | -190 | c.168 others(18): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| TOX_chr8_58800412_59124147 | 58949872 | ATAATATA others(183): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 224 | 0.0045 | -190 | c.168 others(18): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188151856 | GTGAGAAG others(183): Show |
G | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 228 | 0.0044 | -190 | c.*44 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4114 | chr4 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188152019 | TGGGGGTG others(183): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02074.hp1 HG02074.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0044others(2): Show | 5 | 228 | 0.0219 | -190 | c.*46 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4277 | chr4 | TogoVar | ||||||
| TRPC6_chr11_101446564_101589007 | 101574521 | AAAGGAAC others(183): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0002a0001c0003t0001a0001c0007t0002others(1): Show | a0001c0002t0002g0120a0001c0002t0002g0126a0001c0003t0001g0122others(5): Show | 8 | 252 | 0.0318 | -190 | c.170 others(17): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
| TSPEAR_chr21_44492893_44716572 | 44504448 | CAGTGGGG others(183): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0285 | 1 | 294 | 0.0034 | -190 | c.185 others(17): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | ||||||
| TUBB4A_chr19_6489319_6507309 | 6494502 | CTGGGGTC others(183): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0033 | a0001c0001t0030g0295a0001c0001t0033g0296 | 2 | 428 | 0.0047 | -190 | c.*47 others(9): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 4/4 | 472 | chr19 | TogoVar | |||||
| TUBGCP5_chr15_22994177_23044569 | 23043729 | GTGCCGGG others(183): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02647.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133a0001c0003t0001g0134a0001c0003t0001g0135 | 3 | 351 | 0.0086 | -190 | c.-43 others(11): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4161 | chr15 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917125 | CGGAGGCT others(183): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0154 | 1 | 344 | 0.0029 | -190 | c.218 others(15): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| USP14_chr18_153557_219629 | 219077 | AAAAATAA others(183): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0079 | 2 | 380 | 0.0053 | -190 | c.*77 others(11): Show |
USP14 | ENSG00000101557.15 | transcript | ENST00000261601.8 | protein_coding | 4449 | chr18 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133828262 | GGCATCGC others(183): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0012 | 1 | 200 | 0.0050 | -190 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VIPR2_chr7_159023175_159149867 | 159088856 | AGCTCCTC others(183): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 336 | 0.0030 | -190 | c.357 others(19): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| YTHDC2_chr5_113508694_113600284 | 113586882 | TATATAAT others(183): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002a0003c0003t0002g0030 | 3 | 316 | 0.0095 | -190 | c.382 others(19): Show |
YTHDC2 | ENSG00000047188.16 | transcript | ENST00000161863.9 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ZBTB42_chr14_104796101_104809712 | 104807882 | GAGCACCC others(183): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 99 | 0.0101 | -190 | c.*54 others(11): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3171 | chr14 | TogoVar | ||||||
| ZBTB42_chr14_104796101_104809712 | 104808274 | ACTCCCCA others(183): Show |
A | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0000 | 1 | 99 | 0.0101 | -190 | c.*58 others(11): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3563 | chr14 | TogoVar | ||||||
| ZC3H18_chr16_88565403_88636964 | 88629949 | CTGTGCCC others(183): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 378 | 0.0027 | -190 | c.256 others(17): Show |
ZC3H18 | ENSG00000158545.16 | transcript | ENST00000301011.10 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
| ZNF276_chr16_89716537_89745925 | 89745489 | TCTGAGCT others(183): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(254): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(190): Show | 257 | 420 | 0.6119 | -190 | c.*72 others(11): Show |
ZNF276 | ENSG00000158805.12 | transcript | ENST00000443381.7 | protein_coding | 4565 | chr16 | TogoVar | ||||||
| ZNF469_chr16_88377959_88445753 | 88380922 | ACACAGAC others(183): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 HG03209.hp2 NA19240.hp2 |
a0053a0054a0055 | a0053c0067a0054c0072a0055c0069 | a0053c0067t0001a0054c0072t0003a0055c0069t0040 | a0053c0067t0001g0097a0054c0072t0003g0087a0055c0069t0040g0212 | 3 | 354 | 0.0085 | -190 | c.-25 others(11): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 2036 | chr16 | TogoVar | ||||||
| ABHD12B_chr14_50867053_50909970 | 50894048 | GTCCTTCA others(182): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0153a0002c0002t0005g0245 | 2 | 376 | 0.0053 | -189 | c.780 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ACOT7_chr1_6259272_6398767 | 6398578 | TCGTGCTC others(182): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0095 | 2 | 240 | 0.0083 | -189 | c.-53 others(11): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 4812 | chr1 | TogoVar | ||||||
| ACTR3C_chr7_150242212_150328545 | 150244067 | GTATAGTC others(182): Show |
G | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02109.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0209others(20): Show | 24 | 294 | 0.0816 | -189 | c.*33 others(11): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 3144 | chr7 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238523 | CTCCCGGT others(182): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0014 | a0002c0014t0008 | a0002c0014t0008g0060 | 1 | 106 | 0.0094 | -189 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1593017 | ACCCAAGC others(182): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02622.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0013 | a0001c0001t0001a0001c0001t0051a0001c0003t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0051g0051a0001c0003t0001g0052others(2): Show | 5 | 106 | 0.0472 | -189 | c.100 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ANAPC10_chr4_144989576_145103196 | 145038815 | CTGTCTCA others(182): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 HG03688.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0053others(9): Show | 12 | 336 | 0.0357 | -189 | c.327 others(19): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79145131 | CGGCGGTG others(182): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0113 | 1 | 298 | 0.0034 | -189 | c.726 others(17): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| BCAS3_chr17_60672851_61397831 | 61045880 | TATATTAT others(182): Show |
T | intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040a0003c0001t0001g0011 | 2 | 74 | 0.0270 | -189 | c.202 others(19): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| C2CD4C_chr19_400445_414147 | 404223 | GGGGGACG others(182): Show |
G | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0079 | 1 | 322 | 0.0031 | -189 | c.*26 others(11): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1221 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53922011 | TCCCCAGG others(182): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0188a0001c0001t0001g0279others(8): Show | 11 | 364 | 0.0302 | -189 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53923252 | GTCCCAGG others(182): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 364 | 0.0028 | -189 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85769001 | TAGTATAT others(182): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 146 | 0.0069 | -189 | c.89- others(17): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88933252 | GCACGCCT others(182): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02896.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0080a0001c0001t0001g0201a0001c0002t0005g0005others(1): Show | 4 | 284 | 0.0141 | -189 | c.152 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CCNF_chr16_2424447_2463854 | 2442465 | TTATTATA others(182): Show |
T | intron_variant | MODIFIER | HG03017.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0100 | 2 | 276 | 0.0073 | -189 | c.778 others(16): Show |
CCNF | ENSG00000162063.13 | transcript | ENST00000397066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61783674 | TTGTGCCC others(182): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0046 | a0001c0007t0046g0066 | 1 | 106 | 0.0094 | -189 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96827127 | ATTATATG others(182): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03704.hp2 |
a0001a0058 | a0001c0001a0058c0084 | a0001c0001t0001a0058c0084t0001 | a0001c0001t0001g0091a0058c0084t0001g0129 | 2 | 268 | 0.0075 | -189 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |