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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1714): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01943.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0271 others(12): Show |
15 | 106 | 0.1415 | 1721 | c.124 others(1740): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1714): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0145 | 1 | 92 | 0.0109 | 1721 | c.124 others(1740): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1714): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0006g0005 a0001c0001t0006g0087 a0001c0001t0006g0088 others(10): Show |
14 | 105 | 0.1333 | 1721 | c.124 others(1740): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1714): Show |
intron_variant | MODIFIER | HG02970.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0074 a0001c0001t0013g0080 |
2 | 93 | 0.0215 | 1721 | c.124 others(1740): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693561 | T | TCCACCTC others(1714): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0015 | 1 | 46 | 0.0217 | 1721 | c.299 others(1738): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1714): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18995.hp1 NA19063.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0068 a0002c0001t0001g0065 a0002c0001t0001g0073 |
3 | 20 | 0.1500 | 1721 | c.-28 others(1740): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1714): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0070 | 1 | 18 | 0.0556 | 1721 | c.-28 others(1740): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCTCCAC others(1715): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0108 | 1 | 40 | 0.0250 | 1722 | c.179 others(1743): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111247 | A | AACCTGCC others(1715): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0300 | 1 | 256 | 0.0039 | 1722 | c.401 others(1739): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111471 | G | GGACACCT others(1715): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 265 | 0.0075 | 1722 | c.401 others(1739): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(1715): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0328 | 1 | 195 | 0.0051 | 1722 | c.648 others(1739): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1715): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0208 | 1 | 42 | 0.0238 | 1722 | c.179 others(1737): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(1715): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0031 | 1 | 64 | 0.0156 | 1722 | c.139 others(1743): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648195 | G | GACCCAGT others(1715): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 352 | 0.0028 | 1722 | c.253 others(1737): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648435 | C | CGCCGACG others(1715): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 354 | 0.0028 | 1722 | c.252 others(1737): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1715): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0080 | a0002c0080t0001 | a0002c0080t0001g0240 | 1 | 236 | 0.0042 | 1722 | c.268 others(1741): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(1715): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0222 | 1 | 207 | 0.0048 | 1722 | c.724 others(1741): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619009 | C | CGCTCCCC others(1715): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 165 | 0.0061 | 1722 | c.-10 others(1741): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1715): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 |
a0001a0005 | a0001c0008a0005c0018 | a0001c0008t0007a0005c0018t0006 | a0001c0008t0007g0039 a0005c0018t0006g0110 |
2 | 4 | 0.5000 | 1722 | c.219 others(1741): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1715): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 |
a0002 | a0002c0012 | a0002c0012t0009 | a0002c0012t0009g0091 a0002c0012t0009g0092 |
2 | 4 | 0.5000 | 1722 | c.219 others(1741): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(1715): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0058 | 1 | 260 | 0.0038 | 1722 | c.228 others(1739): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(1715): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0088 | 1 | 335 | 0.0030 | 1722 | c.-50 others(1733): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328039 | C | CCTGGACT others(1715): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 410 | 0.0024 | 1722 | c.522 others(1735): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0158 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0108 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0057 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0160 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0163 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1715): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 295 | 0.0034 | 1722 | c.522 others(1737): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1715): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0018a0002c0001t0019 | a0001c0005t0018g0089 a0002c0001t0019g0066 |
2 | 25 | 0.0800 | 1722 | c.366 others(1741): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1715): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01884.hp2 HG01978.hp1 others(10): Show |
a0001a0002a0007others(6): Show | a0001c0005a0001c0025a0001c0053others(8): Show | a0001c0005t0065a0001c0005t0066a0001c0025t0011others(10): Show | a0001c0005t0065g0006 a0001c0005t0066g0004 a0001c0025t0011g0077 others(10): Show |
13 | 36 | 0.3611 | 1722 | c.366 others(1741): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1715): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 47 | 0.0213 | 1722 | c.338 others(1741): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435565 | A | AGGGACGG others(1715): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0062 | 1 | 88 | 0.0114 | 1722 | c.-16 others(1743): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(1715): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0067 | a0067c0058 | a0067c0058t0001 | a0067c0058t0001g0129 | 1 | 83 | 0.0120 | 1722 | c.377 others(1739): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1024839 | T | TCTGTGGG others(1715): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0073 | 1 | 209 | 0.0048 | 1722 | c.142 others(1739): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 224 | 0.0045 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 224 | 0.0045 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0133 |
2 | 225 | 0.0089 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18970.hp1 NA19087.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 a0001c0003t0001g0140 a0001c0003t0001g0204 |
3 | 226 | 0.0133 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0075 |
2 | 225 | 0.0089 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0175 | 1 | 224 | 0.0045 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 224 | 0.0045 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | NA19030.hp2 NA21309.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0040 a0001c0008t0001g0041 |
2 | 225 | 0.0089 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 224 | 0.0045 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1715): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 a0001c0001t0002g0246 a0001c0001t0002g0248 others(3): Show |
6 | 229 | 0.0262 | 1722 | c.324 others(1739): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCTTCCCG others(1715): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0106 | 1 | 234 | 0.0043 | 1722 | c.126 others(1741): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(1715): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 19 | 0.0526 | 1722 | c.126 others(1741): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |