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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3C3_chr18_41950234_42092830 | 42009616 | CTACATTA others(83): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 340 | 0.0029 | -90 | c.117 others(109): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402540 | CCGCTCAC others(83): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0041 | 1 | 216 | 0.0046 | -90 | c.173 others(107): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLD5_chr1_242077986_242529697 | 242394404 | GTATATAT others(83): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0089 | 1 | 188 | 0.0053 | -90 | c.190 others(109): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394637 | TATATATG others(83): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0078a0001c0001t0040g0013 | 2 | 188 | 0.0106 | -90 | c.190 others(109): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 164809 | CACTAATG others(83): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01515.hp1 others(3): Show |
a0003a0035 | a0003c0009a0003c0056a0035c0060 | a0003c0009t0017a0003c0009t0119a0003c0009t0121others(2): Show | a0003c0009t0017g0088a0003c0009t0017g0093a0003c0009t0119g0049others(3): Show | 6 | 210 | 0.0286 | -90 | c.347 others(109): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | ||||||
PLEKHJ1_chr19_2228153_2241329 | 2240988 | AAGCTGCC others(83): Show |
A | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -90 | c.-48 others(101): Show |
PLEKHJ1 | ENSG00000104886.12 | transcript | ENST00000326631.7 | protein_coding | 4660 | chr19 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977926 | CACCACCC others(83): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0134 | 1 | 422 | 0.0024 | -90 | c.*33 others(101): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2062 | chr1 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349136 | TTCTTTCT others(83): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0378a0001c0001t0001g0379a0001c0001t0002g0130 | 3 | 436 | 0.0069 | -90 | c.*31 others(101): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2318 | chr19 | TogoVar | ||||||
PPP1R12B_chr1_202343699_202597702 | 202391570 | TTGAAGAT others(83): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01261.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0165a0001c0001t0001g0211a0001c0001t0001g0219others(24): Show | 27 | 254 | 0.1063 | -90 | c.292 others(109): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPP1R12C_chr19_55085918_55122637 | 55096864 | CGTCTTCG others(83): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 390 | 0.0026 | -90 | c.952 others(105): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101090833 | GACATATC others(83): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01074.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0131a0001c0001t0002g0027a0001c0001t0002g0050others(31): Show | 34 | 192 | 0.1771 | -90 | c.782 others(107): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151603340 | GTCCTCAC others(83): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01884.hp2 others(7): Show |
a0001a0004a0006 | a0001c0001a0004c0008a0006c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(3): Show | a0001c0001t0001g0027a0001c0001t0006g0060a0001c0001t0006g0085others(7): Show | 10 | 252 | 0.0397 | -90 | c.755 others(107): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151603453 | ACGCTCCG others(83): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0115a0001c0001t0001g0134a0001c0001t0009g0002 | 3 | 252 | 0.0119 | -90 | c.755 others(107): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151874171 | GATGTATA others(83): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0251 | 1 | 252 | 0.0040 | -90 | c.114 others(107): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799088 | GTGGTGGT others(83): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0064 | 1 | 178 | 0.0056 | -90 | c.185 others(109): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121586 | AGTTAAGG others(83): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 286 | 0.0035 | -90 | c.335 others(109): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2122637 | GGTGGTTA others(83): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA19010.hp2 NA19070.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0253a0001c0002t0001g0217a0001c0003t0001g0115 | 3 | 286 | 0.0105 | -90 | c.335 others(109): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123453 | GGGTTGTG others(83): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG03017.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0186a0001c0003t0003g0193 | 2 | 286 | 0.0070 | -90 | c.335 others(109): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51553886 | TATATAAT others(83): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG02615.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0046a0001c0001t0001g0054others(11): Show | 14 | 64 | 0.2188 | -90 | c.592 others(109): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRSS41_chr16_2793470_2810304 | 2802000 | CGGCTGGC others(83): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035a0002c0002t0001g0036 | 2 | 426 | 0.0047 | -90 | c.542 others(107): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73184267 | CCCTCCCG others(83): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02080.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0339a0001c0001t0002g0345a0001c0001t0002g0350others(14): Show | 17 | 378 | 0.0450 | -90 | c.481 others(107): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73184340 | GGGCAGAG others(83): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0006a0001c0001t0015a0001c0006t0006others(1): Show | a0001c0001t0006g0128a0001c0001t0006g0140a0001c0001t0006g0148others(16): Show | 19 | 378 | 0.0503 | -90 | c.481 others(107): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSG3_chr19_42716642_42745481 | 42719765 | AAATACCA others(83): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0201 | 1 | 368 | 0.0027 | -90 | c.*22 others(101): Show |
PSG3 | ENSG00000221826.10 | transcript | ENST00000327495.10 | protein_coding | 1876 | chr19 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972274 | AAGGGAAG others(83): Show |
A | intron_variant | MODIFIER | HG01361.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0147a0001c0001t0006g0328 | 2 | 334 | 0.0060 | -90 | c.150 others(109): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972377 | GGGAGGGG others(83): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18952.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0267a0001c0001t0005g0262a0001c0001t0007g0197others(1): Show | 4 | 334 | 0.0120 | -90 | c.150 others(109): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972379 | GAGGGGAG others(83): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0002g0143 | 2 | 334 | 0.0060 | -90 | c.150 others(109): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PUM2_chr2_20243737_20355844 | 20333264 | TGGCTCAT others(83): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 358 | 0.0028 | -90 | c.-18 others(107): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 1/20 | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114030382 | ACTCACAC others(83): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00733.hp2 others(27): Show |
a0001 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(27): Show | 30 | 67 | 0.4478 | -90 | c.373 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114030436 | GCTCACAC others(83): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA18954.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020a0001c0003t0003g0021a0001c0003t0003g0022others(1): Show | 4 | 67 | 0.0597 | -90 | c.373 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7029114 | ACACACAC others(83): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA18994.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0034 | a0001c0001t0001g0025a0002c0003t0034g0061 | 2 | 68 | 0.0294 | -90 | c.-15 others(109): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7229744 | AAGGAAGG others(83): Show |
A | intron_variant | MODIFIER | HG02148.hp1 HG02965.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0010g0037a0001c0001t0018g0052a0001c0001t0019g0055others(1): Show | 4 | 68 | 0.0588 | -90 | c.27+ others(109): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7229816 | AAGGAAGG others(83): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 68 | 0.0147 | -90 | c.27+ others(109): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79491102 | GGGAGGAG others(83): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 154 | 0.0065 | -90 | c.-31 others(109): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM19_chr12_113817057_113971325 | 113837018 | CACACACA others(83): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0229 | 1 | 356 | 0.0028 | -90 | c.278 others(109): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 23/23 | chr12 | TogoVar | ||||||
RBM8A_chr1_145916556_145932484 | 145928045 | GGGAGGCT others(83): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013a0001c0001t0008g0024 | 5 | 382 | 0.0131 | -90 | c.-70 others(99): Show |
RBM8A | ENSG00000265241.8 | transcript | ENST00000583313.7 | protein_coding | 562 | chr1 | TogoVar | ||||||
RCC1L_chr7_75037183_75078802 | 75053163 | GCTGGGGG others(83): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 270 | 0.0037 | -90 | c.123 others(107): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11414403 | TTATATAT others(83): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 | 1 | 402 | 0.0025 | -90 | c.637 others(107): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106467602 | AAGGCAGC others(83): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 382 | 0.0026 | -90 | c.72+ others(103): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106467811 | CGGCCTCA others(83): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0042 | a0042c0034 | a0042c0034t0077 | a0042c0034t0077g0377 | 1 | 382 | 0.0026 | -90 | c.72+ others(103): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107827146 | TGGCCCGG others(83): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18974.hp1 |
a0001a0044 | a0001c0043a0044c0042 | a0001c0043t0001a0044c0042t0004 | a0001c0043t0001g0364a0044c0042t0004g0365 | 2 | 374 | 0.0054 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107827405 | CGGCCTCG others(83): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 374 | 0.0027 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107827432 | GCGATGGC others(83): Show |
G | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 374 | 0.0027 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107827600 | CCGGCGGC others(83): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(106): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0010a0002c0014others(21): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0007others(35): Show | a0002c0003t0001g0171a0002c0003t0002g0093a0002c0003t0002g0110others(106): Show | 109 | 374 | 0.2914 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107827601 | CGGCGGCG others(83): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0367 | 1 | 374 | 0.0027 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107827711 | TGGCCCGG others(83): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0007 | a0007c0047 | a0007c0047t0002 | a0007c0047t0002g0219 | 1 | 374 | 0.0027 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107827946 | ATCATGGC others(83): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01361.hp2 others(4): Show |
a0003a0019 | a0003c0002a0019c0027 | a0003c0002t0003a0019c0027t0020 | a0003c0002t0003g0081a0003c0002t0003g0082a0003c0002t0003g0083others(4): Show | 7 | 374 | 0.0187 | -90 | c.72+ others(103): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107828332 | GGCGGCGG others(83): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0210 | 1 | 374 | 0.0027 | -90 | c.72+ others(105): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107829203 | CCATGGCT others(83): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02717.hp1 others(7): Show |
a0006 | a0006c0007a0006c0008 | a0006c0007t0005a0006c0008t0005a0006c0008t0012 | a0006c0007t0005g0196a0006c0007t0005g0210a0006c0008t0005g0204others(7): Show | 10 | 374 | 0.0267 | -90 | c.72+ others(105): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107829276 | CGGCCCGG others(83): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18974.hp1 NA18993.hp2 |
a0001a0003a0044 | a0001c0043a0003c0002a0044c0042 | a0001c0043t0001a0003c0002t0003a0044c0042t0004 | a0001c0043t0001g0364a0003c0002t0003g0059a0044c0042t0004g0365 | 3 | 374 | 0.0080 | -90 | c.72+ others(105): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD4_chr2_107821892_107897544 | 107829320 | TGGGCGCT others(83): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01123.hp1 others(10): Show |
a0002a0003a0004others(3): Show | a0002c0003a0003c0002a0004c0004others(3): Show | a0002c0003t0042a0003c0002t0003a0004c0004t0002others(3): Show | a0002c0003t0042g0139a0003c0002t0003g0077a0003c0002t0003g0081others(10): Show | 13 | 374 | 0.0348 | -90 | c.72+ others(105): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |