| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TRAPPC9_chr8_139722725_140462744 | 140196027 | ACACCTGT others(792): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0021 | 1 | 98 | 0.0102 | -799 | c.255 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
| ZNF701_chr19_52565287_52592174 | 52569713 | CGCCCAGG others(792): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0195 | a0002c0003t0195g0061 | 1 | 456 | 0.0022 | -799 | c.-68 others(12): Show |
ZNF701 | ENSG00000167562.14 | transcript | ENST00000391785.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113435403 | TGTAGAGT others(791): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0005 | a0004c0005t0099 | a0004c0005t0099g0085 | 1 | 262 | 0.0038 | -798 | c.380 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89429102 | ACGCTCAG others(791): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01433.hp2 HG02129.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0160a0002c0002t0002g0143a0002c0002t0002g0262others(2): Show | 5 | 310 | 0.0161 | -798 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89429236 | ACGTTCTA others(791): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 310 | 0.0032 | -798 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82975306 | GGACTCCA others(791): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG03209.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0037 | a0001c0001t0004g0257a0001c0001t0004g0258a0001c0001t0037g0259 | 3 | 266 | 0.0113 | -798 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 88000135 | CGTGCGCG others(791): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp2 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0122a0001c0010t0007g0123 | 2 | 352 | 0.0057 | -798 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BANP_chr16_87946434_88082316 | 88000186 | TTGCACGG others(791): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0002 | a0002c0019 | a0002c0019t0017a0002c0019t0018 | a0002c0019t0017g0086a0002c0019t0018g0085 | 2 | 352 | 0.0057 | -798 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BANP_chr16_87946434_88082316 | 88000190 | ACGGCTGT others(791): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01069.hp2 others(21): Show |
a0001a0002 | a0001c0004a0001c0020a0001c0026others(1): Show | a0001c0004t0004a0001c0020t0007a0001c0026t0004others(1): Show | a0001c0004t0004g0060a0001c0004t0004g0061a0001c0004t0004g0062others(21): Show | 24 | 352 | 0.0682 | -798 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BANP_chr16_87946434_88082316 | 88000311 | TCCAGACA others(791): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01109.hp2 others(9): Show |
a0001a0002 | a0001c0004a0002c0018 | a0001c0004t0004a0001c0004t0012a0002c0018t0016 | a0001c0004t0004g0131a0001c0004t0004g0137a0001c0004t0004g0138others(9): Show | 12 | 352 | 0.0341 | -798 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2105565 | ACCACTGG others(791): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03225.hp1 |
a0001a0003 | a0001c0015a0001c0017a0003c0016 | a0001c0015t0034a0001c0017t0006a0003c0016t0011 | a0001c0015t0034g0075a0001c0017t0006g0006a0003c0016t0011g0082 | 3 | 104 | 0.0289 | -798 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHMP1A_chr16_89639435_89662708 | 89647539 | AGTGGAGA others(791): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036a0001c0001t0004g0038a0001c0001t0004g0039 | 3 | 392 | 0.0077 | -798 | c.253 others(16): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2279728 | GAGAGAGA others(791): Show |
G | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 50 | 0.0200 | -798 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 455384 | CGTGAGGA others(791): Show |
C | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0017 | 1 | 88 | 0.0114 | -798 | c.269 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
| FGGY_chr1_59292094_59767730 | 59380136 | TATGGCTG others(791): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG03453.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0114a0001c0001t0002g0031a0001c0001t0002g0032others(2): Show | 5 | 166 | 0.0301 | -798 | c.554 others(17): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 77136713 | AGCTAAAA others(791): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0035a0001c0001t0002g0121a0001c0001t0003g0093 | 3 | 128 | 0.0234 | -798 | c.155 others(23): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79504886 | CGTGGGAG others(791): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0290 | 1 | 322 | 0.0031 | -798 | c.278 others(21): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745552 | GCCCGGGG others(791): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0063 | a0001c0001t0031g0104a0001c0001t0063g0075 | 2 | 366 | 0.0055 | -798 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PPP1R14C_chr6_150138044_150255392 | 150246209 | CTTTACTT others(791): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0300 | 1 | 312 | 0.0032 | -798 | c.424 others(17): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43280731 | TTCCTCCT others(791): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0043 | 1 | 280 | 0.0036 | -798 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SUGP1_chr19_19271033_19325509 | 19299573 | GGGGTTTC others(791): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0059 | 2 | 332 | 0.0060 | -798 | c.887 others(17): Show |
SUGP1 | ENSG00000105705.16 | transcript | ENST00000247001.10 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| VHL_chr3_10136778_10158667 | 10148384 | GGCTCACT others(791): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0075 | 1 | 408 | 0.0025 | -798 | c.464 others(16): Show |
VHL | ENSG00000134086.9 | transcript | ENST00000256474.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18381605 | TTGAACCT others(790): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG02896.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0043a0001c0004t0038a0002c0003t0052 | a0001c0002t0043g0101a0001c0004t0038g0139a0002c0003t0052g0024 | 3 | 200 | 0.0150 | -797 | c.214 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| CACNB2_chr10_18335709_18548557 | 18381605 | TTGAACCT others(790): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG02896.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0047a0001c0004t0028a0002c0003t0070 | a0001c0002t0047g0186a0001c0004t0028g0187a0002c0003t0070g0185 | 3 | 302 | 0.0099 | -797 | c.52- others(17): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
| LIMS1_chr2_108529470_108692246 | 108691449 | TTTTTTTT others(790): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0073a0001c0004t0013g0074 | 2 | 246 | 0.0081 | -797 | c.*74 others(11): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 4204 | chr2 | TogoVar | ||||||
| MSI2_chr17_57251523_57689689 | 57413340 | GGGATGTA others(790): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0022a0001c0001t0072 | a0001c0001t0019g0070a0001c0001t0022g0073a0001c0001t0072g0145 | 3 | 168 | 0.0179 | -797 | c.405 others(19): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(790): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 366 | 0.0027 | -797 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744702 | GGGGGTCG others(790): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 366 | 0.0027 | -797 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744724 | TTCGCCGT others(790): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02895.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0044 | a0001c0001t0002g0151a0001c0001t0002g0158a0001c0001t0002g0183others(2): Show | 5 | 366 | 0.0137 | -797 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744784 | GCCGTGGA others(790): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 366 | 0.0027 | -797 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745012 | TCCGTGGA others(790): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034a0001c0001t0003g0036 | 2 | 366 | 0.0055 | -797 | 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 | 746204 | CTCTCCGT others(790): Show |
C | intron_variant | MODIFIER | HG00099.hp2 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019a0002c0002t0003g0021 | 2 | 366 | 0.0055 | -797 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746888 | TTCGCCGT others(790): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0263 | 1 | 366 | 0.0027 | -797 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SAP30BP_chr17_75662338_75713059 | 75709415 | CGCGCCAC others(790): Show |
C | downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 370 | 0.0027 | -797 | c.*28 others(11): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 1357 | chr17 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668427 | CACCCTCC others(790): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0226 | 1 | 262 | 0.0038 | -797 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SYNM_chr15_99100080_99140593 | 99116396 | ACTGCCCC others(790): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(100): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0007a0003c0003others(14): Show | a0001c0001t0003a0001c0007t0001a0001c0007t0009others(19): Show | a0001c0001t0003g0160a0001c0007t0001g0094a0001c0007t0009g0090others(61): Show | 103 | 420 | 0.2452 | -797 | c.935 others(17): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ZFAND6_chr15_80054676_80143393 | 80133428 | CAGGTGAT others(790): Show |
C | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 374 | 0.0027 | -797 | c.478 others(17): Show |
ZFAND6 | ENSG00000086666.19 | transcript | ENST00000261749.11 | protein_coding | 6/6 | chr15 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82974968 | TATGGAGA others(789): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0221 | 1 | 266 | 0.0038 | -796 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113955256 | CATCTGGC others(789): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0039a0001c0001t0108others(1): Show | a0001c0001t0022g0053a0001c0001t0022g0168a0001c0001t0022g0182others(3): Show | 8 | 414 | 0.0193 | -796 | c.*72 others(10): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 721 | chr13 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79473629 | GTTGCAAG others(789): Show |
G | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0252 | 1 | 322 | 0.0031 | -796 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79473746 | GTTGTGAG others(789): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0011 | a0011c0049 | a0011c0049t0002 | a0011c0049t0002g0306 | 1 | 322 | 0.0031 | -796 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287475 | TCTCTCCA others(789): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0048 | 1 | 133 | 0.0075 | -796 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| BMPR2_chr2_202371327_202572749 | 202479394 | CTGGCAGA others(788): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0143 | 1 | 224 | 0.0045 | -795 | c.418 others(19): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BRF1_chr14_105204286_105306001 | 105276667 | CGGCCCTC others(788): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 72 | 0.0139 | -795 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276713 | CGAGAGGC others(788): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0014 | 2 | 72 | 0.0278 | -795 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277838 | AGAGGGAG others(788): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0034 | 1 | 50 | 0.0200 | -795 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2279495 | GGGGAGAG others(788): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 50 | 0.0200 | -795 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| LITAFD_chr16_8877351_8890350 | 8879085 | ACCCAGGC others(788): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 406 | 0.0049 | -795 | c.-35 others(11): Show |
LITAFD | ENSG00000283516.2 | transcript | ENST00000636296.2 | protein_coding | 3265 | chr16 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685993 | GAGAACAG others(788): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 362 | 0.0028 | -795 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686258 | CAGAACAG others(788): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02083.hp2 HG02165.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0148a0001c0001t0002g0018others(6): Show | 9 | 362 | 0.0249 | -795 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar |