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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPF19_chr11_60885547_60911585 | 60904296 | ATTATAAA others(27): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 350 | 0.0029 | -34 | c.20- others(47): Show |
PRPF19 | ENSG00000110107.9 | transcript | ENST00000227524.9 | protein_coding | 1/15 | chr11 | TogoVar | ||||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(27): Show |
A | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 426 | 0.0024 | -34 | c.750 others(49): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRR23C_chr3_139037102_139049892 | 139047999 | GATATATA others(27): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 426 | 0.0047 | -34 | c.-34 others(45): Show |
PRR23C | ENSG00000233701.3 | transcript | ENST00000413199.1 | protein_coding | 3108 | chr3 | TogoVar | ||||||
PRR36_chr19_7863719_7879390 | 7877955 | TATATATA others(27): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01928.hp2 HG01952.hp1 others(4): Show |
a0001a0028 | a0001c0001a0028c0030 | a0001c0001t0001a0028c0030t0002 | a0001c0001t0001g0001a0028c0030t0002g0053 | 7 | 386 | 0.0181 | -34 | c.-37 others(45): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3566 | chr19 | TogoVar | ||||||
PRR36_chr19_7863719_7879390 | 7878084 | ATATACGC others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0006a0005c0011others(2): Show | a0001c0001t0001a0004c0006t0001a0005c0011t0001others(2): Show | a0001c0001t0001g0001a0004c0006t0001g0009a0005c0011t0001g0014others(2): Show | 8 | 386 | 0.0207 | -34 | c.-38 others(45): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3695 | chr19 | TogoVar | ||||||
PRRC1_chr5_127512640_127560085 | 127558847 | TTGCCCAG others(27): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 340 | 0.0029 | -34 | c.*69 others(45): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 3763 | chr5 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346636 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0034 | 1 | 448 | 0.0022 | -34 | c.*41 others(45): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3688 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346638 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0016a0002c0001t0001g0184 | 2 | 448 | 0.0045 | -34 | c.*41 others(45): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3686 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346640 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 | 1 | 448 | 0.0022 | -34 | c.*41 others(45): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3684 | chr7 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118299741 | TAAAATAA others(27): Show |
T | intron_variant | MODIFIER | HG03831.hp1 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086a0002c0002t0001g0089 | 2 | 364 | 0.0055 | -34 | c.163 others(51): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40399871 | CTTTCTTT others(27): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0068 | 1 | 306 | 0.0033 | -34 | c.185 others(51): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 228 | 0.0044 | -34 | c.163 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865264 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 228 | 0.0044 | -34 | c.163 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSMC3IP_chr17_42567310_42582729 | 42574712 | CCTCCTTC others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(32): Show | 303 | 388 | 0.7809 | -34 | c.226 others(49): Show |
PSMC3IP | ENSG00000131470.15 | transcript | ENST00000393795.8 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PSMC6_chr14_52702200_52733590 | 52711011 | TGAGTGTT others(27): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(92): Show | 155 | 398 | 0.3895 | -34 | c.259 others(47): Show |
PSMC6 | ENSG00000100519.12 | transcript | ENST00000445930.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 245678 | GTGTTTGC others(27): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 450 | 0.0022 | -34 | c.396 others(49): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231165024 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0250a0001c0001t0001g0264a0001c0001t0001g0287others(3): Show | 6 | 364 | 0.0165 | -34 | c.248 others(51): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTGER1_chr19_14467466_14480354 | 14472645 | CCGCCCTT others(27): Show |
C | frameshift_variant | HIGH | HG02165.hp1 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0027 | 1 | 408 | 0.0025 | -34 | c.109 others(43): Show |
p.Arg others(5): Show |
PTGER1 | ENSG00000160951.4 | transcript | ENST00000292513.4 | protein_coding | 3/3 | 1233/1413 | 1090/1209 | 364/402 | chr19 | TogoVar | ||
PTGIR_chr19_46615468_46630089 | 46619515 | AAGAAAGA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01934.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005a0001c0003t0001g0009a0001c0003t0001g0012 | 9 | 420 | 0.0214 | -34 | c.*17 others(45): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 952 | chr19 | TogoVar | ||||||
PTGIR_chr19_46615468_46630089 | 46619527 | AAGAAAGA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004 | 1 | 420 | 0.0024 | -34 | c.*17 others(45): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 940 | chr19 | TogoVar | ||||||
PTGIR_chr19_46615468_46630089 | 46619531 | AAGAAAGA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0025 | 1 | 420 | 0.0024 | -34 | c.*17 others(45): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 936 | chr19 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(27): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0121 | 1 | 354 | 0.0028 | -34 | c.*70 others(43): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 707 | chr1 | TogoVar | |||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(27): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0137a0001c0001t0138 | a0001c0001t0137g0241a0001c0001t0138g0011 | 2 | 354 | 0.0057 | -34 | c.*70 others(43): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 705 | chr1 | TogoVar | |||||
PTPN14_chr1_214343700_214556602 | 214373558 | AACACACA others(27): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02630.hp2 HG03471.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0026a0001c0001t0176a0001c0001t0177others(3): Show | a0001c0001t0026g0192a0001c0001t0176g0265a0001c0001t0177g0271others(3): Show | 6 | 272 | 0.0221 | -34 | c.290 others(51): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 15/18 | chr1 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12870329 | ATGTATAT others(27): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 370 | 0.0027 | -34 | c.70- others(51): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12870342 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194a0001c0001t0002g0220a0001c0001t0002g0221others(1): Show | 4 | 370 | 0.0108 | -34 | c.70- others(51): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12870350 | TGTGTATA others(27): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 370 | 0.0027 | -34 | c.70- others(51): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8684452 | TCCTCTTT others(27): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0015 | 1 | 34 | 0.0294 | -34 | c.65- others(51): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8934419 | GTGTATAT others(27): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0017 | a0001c0001t0001g0006a0001c0010t0017g0016 | 2 | 34 | 0.0588 | -34 | c.-10 others(55): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9595287 | ATTATATA others(27): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 |
a0001a0005 | a0001c0004a0005c0015 | a0001c0004t0003a0005c0015t0010 | a0001c0004t0003g0001a0005c0015t0010g0026 | 2 | 34 | 0.0588 | -34 | c.-28 others(55): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 7/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9845133 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0002g0013others(16): Show | 19 | 34 | 0.5588 | -34 | c.-36 others(55): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 5/45 | chr9 | TogoVar | ||||||
PTPRE_chr10_127902103_128090855 | 128020023 | TGTGTGTG others(27): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG06807.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0019 | a0001c0001t0001g0172a0001c0001t0001g0227a0001c0002t0019g0214 | 3 | 304 | 0.0099 | -34 | c.-7- others(51): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61853992 | TGTGCTGA others(27): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0022 | 1 | 94 | 0.0106 | -34 | c.190 others(55): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8240798 | GAGAGAGA others(27): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | -34 | c.230 others(53): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 14/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PTPRQ_chr12_80439235_80685273 | 80552645 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(8): Show |
a0005a0015a0018others(2): Show | a0005c0004a0005c0044a0015c0045others(3): Show | a0005c0004t0001a0005c0004t0002a0005c0044t0002others(4): Show | a0005c0004t0001g0033a0005c0004t0001g0166a0005c0004t0002g0117others(7): Show | 11 | 178 | 0.0618 | -34 | c.428 others(53): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PTPRQ_chr12_80439235_80685273 | 80558134 | TTTTCTTT others(27): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0015 | a0015c0045 | a0015c0045t0002 | a0015c0045t0002g0162 | 1 | 178 | 0.0056 | -34 | c.428 others(53): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PTPRT_chr20_42067756_43194906 | 42276496 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0009 | 1 | 62 | 0.0161 | -34 | c.217 others(53): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42278073 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG02155.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0004 | a0001c0003t0003a0002c0001t0011a0002c0004t0002others(1): Show | a0001c0003t0003g0033a0002c0001t0011g0019a0002c0001t0011g0020others(2): Show | 5 | 62 | 0.0807 | -34 | c.217 others(53): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42541514 | ATAGTAAA others(27): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0007others(26): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(49): Show | a0001c0002t0002g0031a0001c0002t0002g0058a0001c0002t0003g0040others(57): Show | 60 | 62 | 0.9677 | -34 | c.115 others(55): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | ||||||
PTTG1IP2_chr7_90464639_90518397 | 90518278 | GCTGCTAG others(27): Show |
G | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 384 | 0.0026 | -34 | c.*50 others(45): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 4882 | chr7 | TogoVar | ||||||
PTTG1IP_chr21_44844598_44878690 | 44863057 | CAGACACA others(27): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0204a0001c0001t0003g0132a0001c0001t0006g0017others(21): Show | 31 | 444 | 0.0698 | -34 | c.169 others(51): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30942191 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 334 | 0.0030 | -34 | c.299 others(50): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51577988 | AAAGAAAG others(27): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0015 | a0015c0044 | a0015c0044t0001 | a0015c0044t0001g0061 | 1 | 122 | 0.0082 | -34 | c.308 others(53): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1675785 | CACAGTTT others(27): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(70): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0186others(70): Show | 73 | 322 | 0.2267 | -34 | c.848 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 8/22 | chr2 | TogoVar | ||||||
PYDC1_chr16_31210962_31222135 | 31221910 | CAGAAGGG others(27): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 346 | 0.0029 | -34 | c.-49 others(45): Show |
PYDC1 | ENSG00000169900.8 | transcript | ENST00000302964.4 | protein_coding | 4776 | chr16 | TogoVar | ||||||
QSER1_chr11_32887811_32985270 | 32973241 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0013 | 1 | 236 | 0.0042 | -34 | c.520 others(50): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB11FIP1_chr8_37853618_37904497 | 37895245 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0026 | a0006c0026t0005 | a0006c0026t0005g0016 | 1 | 264 | 0.0038 | -34 | c.371 others(51): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445552 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01433.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0025a0001c0009t0024 | a0001c0001t0025g0054a0001c0009t0024g0017a0001c0009t0024g0018 | 3 | 310 | 0.0097 | -34 | c.336 others(53): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58596697 | TATATTAT others(27): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00639.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0088others(30): Show | 33 | 220 | 0.1500 | -34 | c.24+ others(51): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB3GAP1_chr2_135047292_135175710 | 135081346 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0120 | 1 | 280 | 0.0036 | -34 | c.151 others(51): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |