| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PPP1R15B_chr1_204398381_204416817 | 204412722 | TTGAGACG others(914): Show |
T | upstream_gene_variant | MODIFIER | NA18985.hp2 NA19077.hp2 |
a0004a0011 | a0004c0009a0011c0012 | a0004c0009t0001a0011c0012t0002 | a0004c0009t0001g0020a0011c0012t0002g0035 | 2 | 394 | 0.0051 | -921 | c.-22 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 906 | chr1 | TogoVar | ||||||
| TAF11L14_chr5_17629460_17640053 | 17639132 | ATTTAGGG others(914): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02155.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 6 | 398 | 0.0151 | -921 | c.*40 others(11): Show |
TAF11L14 | ENSG00000250782.1 | transcript | ENST00000512227.1 | protein_coding | 4080 | chr5 | TogoVar | ||||||
| AVL9_chr7_32490489_32593726 | 32510327 | GCACAGTC others(913): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028a0001c0001t0036 | a0001c0001t0024g0284a0001c0001t0024g0287a0001c0001t0024g0288others(3): Show | 6 | 330 | 0.0182 | -920 | c.93+ others(17): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82975039 | CCAGGGCC others(913): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0014a0001c0011t0030 | a0001c0003t0014g0194a0001c0011t0030g0143 | 2 | 266 | 0.0075 | -920 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| COL11A2_chr6_33157694_33197467 | 33158143 | GTGAAGTG others(913): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(108): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0027a0001c0031others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0015others(43): Show | 111 | 367 | 0.3025 | -920 | c.*46 others(11): Show |
COL11A2 | ENSG00000204248.12 | transcript | ENST00000341947.7 | protein_coding | 4550 | chr6 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(913): Show |
T | upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 344 | 0.0029 | -920 | c.-18 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346013 | CGGCTGAG others(913): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 288 | 0.0035 | -920 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| MAPK8IP3_chr16_1701195_1775351 | 1737086 | GTGTGAGT others(913): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0012 | 1 | 330 | 0.0030 | -920 | c.603 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(913): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -920 | c.*27 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| PPP1R15B_chr1_204398381_204416817 | 204412723 | TGAGACGG others(913): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013 | a0001c0002t0002g0002a0001c0002t0013g0032 | 2 | 394 | 0.0051 | -920 | c.-22 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 907 | chr1 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827242 | CCACTGAG others(912): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02559.hp1 NA20300.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0002a0002c0001t0001 | a0001c0004t0002g0029a0002c0001t0001g0085a0002c0001t0001g0178 | 3 | 200 | 0.0150 | -919 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1459909 | CAGCAAAC others(911): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0034 | 1 | 106 | 0.0094 | -918 | c.101 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940593 | ATGTGTGG others(911): Show |
A | intron_variant | MODIFIER | HG02074.hp1 NA18946.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0233a0001c0001t0002g0264others(1): Show | 4 | 326 | 0.0123 | -918 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32864316 | ACTAATTT others(911): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | -918 | c.94- others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566336 | TCTGTCTG others(911): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 340 | 0.0029 | -918 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43496021 | GGTGATGG others(911): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0136 | 1 | 250 | 0.0040 | -918 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MTMR1_chrX_150688396_150770108 | 150759458 | ATCTGGAG others(911): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0072a0001c0001t0001g0082 | 3 | 270 | 0.0111 | -918 | c.185 others(19): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(911): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -918 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085876 | CCGGGGAA others(911): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02148.hp1 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058a0001c0002t0002g0055a0001c0002t0002g0062 | 3 | 67 | 0.0448 | -918 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114086021 | GTCCTCGC others(911): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0010 | 1 | 67 | 0.0149 | -918 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114086038 | CCGGGGAA others(911): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 | 1 | 67 | 0.0149 | -918 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| ZNF512B_chr20_63951704_63974930 | 63964828 | CACCACTG others(911): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0045a0001c0005t0002g0046a0001c0005t0002g0160others(1): Show | 6 | 356 | 0.0169 | -918 | c.103 others(17): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806501 | TCCCCCCT others(910): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 314 | 0.0032 | -917 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2215 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806501 | TCCCCCCT others(910): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18951.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0065a0002c0003t0002g0035 | 3 | 319 | 0.0094 | -917 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2691 | chr2 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291354 | TCCGTGTC others(910): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0165 | 1 | 284 | 0.0035 | -917 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291455 | CCCCGTGT others(910): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 284 | 0.0035 | -917 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104833906 | CTGCACAG others(909): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(40): Show |
a0002a0003a0012others(1): Show | a0002c0011a0002c0015a0002c0037others(8): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(23): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263others(40): Show | 43 | 318 | 0.1352 | -916 | c.131 others(19): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 11/49 | chr9 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888932 | GGTCTGTG others(909): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02486.hp1 HG02559.hp1 others(19): Show |
a0001a0003a0021 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0004a0001c0002t0001a0001c0003t0001others(16): Show | a0001c0001t0004g0138a0001c0002t0001g0048a0001c0002t0001g0049others(19): Show | 22 | 363 | 0.0606 | -916 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | chr8 | TogoVar | ||||||
| C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(909): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00735.hp2 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0005t0002a0001c0006t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0065others(23): Show | 31 | 320 | 0.0969 | -916 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 170943 | CAGCACCA others(909): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049a0001c0001t0006g0050 | 2 | 339 | 0.0059 | -916 | c.453 others(16): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806496 | CTCCCTCC others(909): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 314 | 0.0032 | -916 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2210 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806496 | CTCCCTCC others(909): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 319 | 0.0031 | -916 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2696 | chr2 | TogoVar | ||||||
| SFXN1_chr5_175473560_175534742 | 175496756 | GAATCCCT others(909): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0134 | 1 | 372 | 0.0027 | -916 | c.164 others(17): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79920303 | GGGGAGAG others(909): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0182a0001c0001t0009g0264 | 2 | 352 | 0.0057 | -916 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235693 | CCTCCCGG others(908): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0033a0002c0002t0038 | a0001c0007t0033g0041a0002c0002t0038g0048 | 2 | 106 | 0.0189 | -915 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ARHGEF38_chr4_105547620_105685914 | 105580519 | GTGGTTCT others(908): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0113 | 1 | 186 | 0.0054 | -915 | c.197 others(17): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CDC23_chr5_138182650_138218323 | 138196835 | CTCCCAAA others(908): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0039a0001c0001t0001g0167others(2): Show | 8 | 392 | 0.0204 | -915 | c.101 others(18): Show |
CDC23 | ENSG00000094880.11 | transcript | ENST00000394886.7 | protein_coding | 9/15 | chr5 | TogoVar | ||||||
| CPEB1_chr15_82538201_82652363 | 82645354 | TGTTGGCC others(908): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0109 | 1 | 354 | 0.0028 | -915 | c.-98 others(16): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322468 | TCCGGCGA others(908): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0020 | a0001c0020t0008 | a0001c0020t0008g0074 | 1 | 88 | 0.0114 | -915 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| OR5P3_chr11_7819818_7835840 | 7825116 | TTCAACAT others(908): Show |
T | frameshift_variant others(2): Show |
HIGH | HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show |
a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0007a0000c0005t0005g0029a0000c0005t0005g0030 | 12 | 422 | 0.0284 | -915 | c.-21 others(10): Show |
p.Met others(3): Show |
OR5P3 | ENSG00000182334.3 | transcript | ENST00000641167.1 | protein_coding | 2/2 | 894/1193 | 1/936 | 1/311 | chr11 | TogoVar | ||
| SCEL_chr13_77530706_77650263 | 77597135 | TGTATGAA others(908): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02109.hp1 | a0013 | a0013c0013 | a0013c0013t0002 | a0013c0013t0002g0199 | 1 | 356 | 0.0028 | -915 | c.753 others(15): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 13/33 | chr13 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235686 | CCCTCTGC others(907): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0049 | 1 | 106 | 0.0094 | -914 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1541576 | TCACAGCC others(907): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 106 | 0.0094 | -914 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186271 | GGGGAACA others(907): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(4): Show | 7 | 350 | 0.0200 | -914 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2718 | chr16 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1561784 | ACTGTGTG others(906): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -913 | c.123 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GCM1_chr6_53121961_53153841 | 53125289 | GTGCAGTG others(906): Show |
G | downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 412 | 0.0024 | -913 | c.*20 others(11): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 1671 | chr6 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745441 | CGGGGGTC others(906): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 366 | 0.0027 | -913 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746747 | GCCCGGGG others(906): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0041 | 1 | 366 | 0.0027 | -913 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC38A1_chr12_46178063_46274043 | 46237377 | GGTCTTTT others(906): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0109a0001c0001t0122 | a0001c0001t0038g0298a0001c0001t0038g0299a0001c0001t0109g0261others(1): Show | 4 | 330 | 0.0121 | -913 | c.122 others(17): Show |
SLC38A1 | ENSG00000111371.16 | transcript | ENST00000398637.10 | protein_coding | 3/16 | chr12 | TogoVar | ||||||
| TTC29_chr4_146701617_146950864 | 146809025 | GTACCAAA others(906): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01257.hp1 others(25): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0054a0003c0004t0001g0073a0003c0004t0001g0083others(25): Show | 28 | 292 | 0.0959 | -913 | c.110 others(19): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 10/12 | chr4 | TogoVar |