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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR36_chr19_7863719_7879390 | 7877937 | TATATATA others(45): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01123.hp2 others(4): Show |
a0002a0003a0016 | a0002c0002a0003c0003a0016c0041 | a0002c0002t0001a0003c0003t0001a0016c0041t0001 | a0002c0002t0001g0005 a0003c0003t0001g0002 a0016c0041t0001g0041 |
7 | 384 | 0.0182 | -52 | c.-37 others(63): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3548 | chr19 | TogoVar | |||||||
PRSS33_chr16_2778953_2792560 | 2791399 | ATCTCTGC others(45): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 383 | 0.0078 | -52 | c.-39 others(63): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 3840 | chr16 | TogoVar | |||||||
PRSS58_chr7_142247143_142263058 | 142256306 | GGATGTTA others(45): Show |
G | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 404 | 0.0025 | -52 | c.41- others(65): Show |
PRSS58 | ENSG00000258223.6 | transcript | ENST00000547058.6 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
PSAPL1_chr4_7425285_7439930 | 7430729 | CTAGGCCC others(45): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0000 | 1 | 454 | 0.0022 | -52 | c.*25 others(63): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 1/1 | 2533 | chr4 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594195 | CATATTAT others(45): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 181 | 0.0055 | -52 | c.248 others(71): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752528 | AATTATAT others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0013a0001c0025 | a0001c0001t0021a0001c0013t0001a0001c0025t0023 | a0001c0001t0021g0136 a0001c0013t0001g0101 a0001c0025t0023g0162 |
3 | 216 | 0.0139 | -52 | c.217 others(73): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865244 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA21309.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0004c0009t0012 | a0001c0001t0002g0166 a0004c0009t0012g0151 |
2 | 219 | 0.0091 | -52 | c.163 others(71): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSMD1_chr2_231051867_231177827 | 231165024 | TTATATAT others(45): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 others(2): Show |
5 | 153 | 0.0327 | -52 | c.248 others(69): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTGER4_chr5_40674915_40698735 | 40697074 | GAAGGAAG others(45): Show |
G | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 404 | 0.0025 | -52 | c.*46 others(63): Show |
PTGER4 | ENSG00000171522.6 | transcript | ENST00000302472.4 | protein_coding | 3340 | chr5 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(45): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 1 | 214 | 0.0047 | -52 | c.*68 others(61): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 689 | chr1 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(45): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 285 | 0.0035 | -52 | c.*68 others(61): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 687 | chr1 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141395615 | CAGGATAG others(45): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018 | a0001c0001t0001g0066 a0001c0001t0001g0289 a0001c0001t0007g0067 others(1): Show |
4 | 322 | 0.0124 | -52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141395620 | TAGGTGCA others(45): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 322 | 0.0031 | -52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141395627 | ATGGGCCA others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0039 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0250 others(3): Show |
6 | 311 | 0.0193 | -52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141395672 | AAGGTGCG others(45): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0031 others(16): Show |
19 | 305 | 0.0623 | -52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12870284 | CATATACA others(45): Show |
C | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0243 | 1 | 314 | 0.0032 | -52 | c.70- others(69): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8782058 | CGTTTATG others(45): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01243.hp2 others(14): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0013g0022 others(14): Show |
17 | 24 | 0.7083 | -52 | c.-10 others(73): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 8289535 | CACATATA others(45): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0058 a0001c0001t0002g0037 a0001c0003t0001g0018 others(6): Show |
9 | 74 | 0.1216 | -52 | c.275 others(71): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRO_chr12_15317508_15603331 | 15513083 | AGAAAGAA others(45): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02683.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0003a0001c0008t0004 | a0001c0002t0001g0019 a0001c0002t0001g0140 a0001c0002t0001g0157 others(3): Show |
6 | 160 | 0.0375 | -52 | c.146 others(71): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42278268 | CTTCTCTG others(45): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01261.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0008others(6): Show | a0001c0002t0023a0001c0003t0001a0001c0003t0018others(9): Show | a0001c0002t0023g0044 a0001c0003t0001g0038 a0001c0003t0018g0046 others(9): Show |
12 | 62 | 0.1935 | -52 | c.217 others(71): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | |||||||
PUS1_chr12_131924276_131950896 | 131946143 | AGTGGTGC others(45): Show |
A | downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 380 | 0.0026 | -52 | c.*25 others(63): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 248 | chr12 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160121682 | CTGATTAC others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 382 | 0.0026 | -52 | c.-23 others(63): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 2233 | chr5 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132403984 | TGCTCCCG others(45): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(5): Show |
a0001a0003 | a0001c0009a0003c0008 | a0001c0009t0001a0003c0008t0001 | a0001c0009t0001g0021 a0001c0009t0001g0071 a0001c0009t0001g0121 others(3): Show |
8 | 360 | 0.0222 | -52 | c.126 others(67): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132403992 | TAGGACGG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(177): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0027 others(109): Show |
180 | 334 | 0.5389 | -52 | c.126 others(67): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1372257 | GCTCAGCA others(45): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0122 | 1 | 410 | 0.0024 | -52 | c.198 others(69): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1639031 | CGGGTCTC others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 others(264): Show |
267 | 320 | 0.8344 | -52 | c.407 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
RAB26_chr16_2143625_2159165 | 2157093 | ACCCCTTC others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02300.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0072 a0001c0001t0006g0044 a0001c0001t0008g0024 |
4 | 382 | 0.0105 | -52 | c.*36 others(63): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 2929 | chr16 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671657 | TGTACTCA others(45): Show |
T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0114 | 1 | 336 | 0.0030 | -52 | c.143 others(69): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42144868 | AGTGAGCC others(45): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0183 |
2 | 304 | 0.0066 | -52 | c.-89 others(70): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RASA1_chr5_87262883_87396916 | 87287762 | GCCATAGA others(45): Show |
G | intron_variant | MODIFIER | NA19074.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0276 | 1 | 279 | 0.0036 | -52 | c.539 others(71): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48459927 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0120 a0001c0001t0003g0121 |
4 | 300 | 0.0133 | -52 | c.210 others(68): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RBBP8NL_chr20_62405237_62432539 | 62406703 | ACCTCTGT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp1 NA19007.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0262 a0002c0002t0001g0006 |
2 | 422 | 0.0047 | -52 | c.*41 others(63): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3533 | chr20 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62417824 | CCCCCCCA others(45): Show |
C | intron_variant | MODIFIER | HG02738.hp2 NA19058.hp1 |
a0003a0011 | a0003c0003a0011c0015 | a0003c0003t0002a0011c0015t0002 | a0003c0003t0002g0122 a0011c0015t0002g0129 |
2 | 430 | 0.0047 | -52 | c.104 others(67): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62417877 | CCCCCCCA others(45): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0280 a0001c0001t0002g0166 |
2 | 430 | 0.0047 | -52 | c.104 others(67): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBFA_chr18_80029434_80055651 | 80032972 | GTTTTTCC others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0005a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(28): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(72): Show |
179 | 412 | 0.4345 | -52 | c.-15 others(63): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 1461 | chr18 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7009060 | CCCTTCCT others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0002g0004 others(5): Show |
8 | 64 | 0.1250 | -52 | c.-15 others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7186239 | TATATAAA others(45): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0037 | a0001c0001t0026g0051 a0001c0001t0037g0029 |
2 | 54 | 0.0370 | -52 | c.27+ others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7186267 | CATAAACA others(45): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0015others(2): Show | a0001c0001t0005g0058 a0001c0001t0014g0046 a0001c0001t0015g0045 others(2): Show |
5 | 55 | 0.0909 | -52 | c.27+ others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7504735 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0007g0097 |
2 | 230 | 0.0087 | -52 | c.88- others(69): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79349846 | GGAATGGG others(45): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 152 | 0.0066 | -52 | c.-17 others(73): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40592953 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0009 | a0002c0009t0014 | a0002c0009t0014g0077 | 1 | 265 | 0.0038 | -52 | c.-24 others(73): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30421054 | TTGTGCTG others(45): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 | 1 | 302 | 0.0033 | -52 | c.66+ others(69): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
RECQL4_chr8_144506288_144522833 | 144522160 | TGCCGGCC others(45): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 410 | 0.0024 | -52 | c.-44 others(63): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 4328 | chr8 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16524914 | GCGGGGGA others(45): Show |
G | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 292 | 0.0034 | -52 | c.458 others(71): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
REV1_chr2_99395477_99495017 | 99400191 | CAGTAGAG others(45): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03486.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0123 a0003c0003t0001g0124 |
2 | 322 | 0.0062 | -52 | c.*99 others(62): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 285 | chr2 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(45): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 144 | 0.0069 | -52 | c.925 others(71): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422611 | TACACATA others(45): Show |
T | intron_variant | MODIFIER | HG03831.hp1 NA18974.hp1 NA20805.hp1 |
a0002a0018 | a0002c0002a0018c0030 | a0002c0002t0001a0018c0030t0001 | a0002c0002t0001g0153 a0002c0002t0001g0227 a0018c0030t0001g0226 |
3 | 237 | 0.0127 | -52 | c.140 others(69): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47074224 | AAAGAAAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 295 | 0.0034 | -52 | c.-51 others(63): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4218 | chrX | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47074228 | AAAGAAAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 NA18941.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0003g0289 |
3 | 300 | 0.0100 | -52 | c.-51 others(63): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4214 | chrX | TogoVar | |||||||
RGPD2_chr2_87750960_87830796 | 87825402 | CAGGCCGA others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0106 a0001c0001t0001g0107 others(2): Show |
6 | 176 | 0.0341 | -52 | c.72+ others(65): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar |