| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(1036): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0275 | 1 | 295 | 0.0034 | 1043 | c.126 others(1062): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1036): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0116 | 1 | 334 | 0.0030 | 1043 | c.45- others(1058): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1036): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0292 | 1 | 334 | 0.0030 | 1043 | c.45- others(1058): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCCAC others(1036): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0010 | a0001c0010t0091 | a0001c0010t0091g0275 | 1 | 280 | 0.0036 | 1043 | c.89- others(1056): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1036): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0166 | 1 | 214 | 0.0047 | 1043 | c.206 others(1062): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1036): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 NA19054.hp1 NA19057.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019a0001c0003t0001g0103 | 3 | 422 | 0.0071 | 1043 | c.*64 others(1054): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(1036): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 94 | 0.0106 | 1043 | c.79+ others(1060): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129828829 | A | AGGGAGGG others(1036): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 94 | 0.0106 | 1043 | c.79+ others(1060): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1036): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG03688.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 360 | 0.0083 | 1043 | c.*24 others(1054): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
| TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(1036): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0167 | 1 | 238 | 0.0042 | 1043 | c.392 others(1060): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1036): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(1036): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 394 | 0.0025 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169203 | T | TCCTCCCT others(1036): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0038 | 1 | 115 | 0.0087 | 1043 | c.*82 others(1052): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 740 | chrX | TogoVar | ||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1036): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 274 | 0.0037 | 1043 | c.*51 others(1054): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1037): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0039 | a0001c0039t0008 | a0001c0039t0008g0301 | 1 | 306 | 0.0033 | 1044 | c.130 others(1063): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1037): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 248 | 0.0040 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1037): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 248 | 0.0040 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1037): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0067 | a0001c0067t0004 | a0001c0067t0004g0074 | 1 | 248 | 0.0040 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ANXA2_chr15_60342151_60402986 | 60349979 | G | GGAAGGCA others(1037): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 334 | 0.0030 | 1044 | c.838 others(1059): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
| APBA2_chr15_28880974_29123315 | 29063023 | G | GAGTTGAT others(1037): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0014 | a0002c0014t0035 | a0002c0014t0035g0191 | 1 | 204 | 0.0049 | 1044 | c.951 others(1061): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1037): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 238 | 0.0042 | 1044 | c.787 others(1059): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
| ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1037): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0246 | 1 | 298 | 0.0034 | 1044 | c.173 others(1061): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1037): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 318 | 0.0031 | 1044 | c.285 others(1063): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ASAP2_chr2_9201812_9410678 | 9406082 | T | TGTGTCAC others(1037): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 210 | 0.0048 | 1044 | c.*27 others(1055): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 405 | chr2 | TogoVar | ||||||
| C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1037): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 326 | 0.0031 | 1044 | c.327 others(1061): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1037): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 354 | 0.0028 | 1044 | c.-22 others(1061): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1037): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0079 | a0002c0003t0079g0289 | 1 | 334 | 0.0030 | 1044 | c.-25 others(1055): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 650785 | T | TGTGACTG others(1037): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0024 | 1 | 91 | 0.0110 | 1044 | c.177 others(1063): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1037): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 290 | 0.0035 | 1044 | c.162 others(1063): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18973.hp1 NA19078.hp1 others(2): Show |
a0001a0006 | a0001c0002a0006c0017 | a0001c0002t0001a0006c0017t0001 | a0001c0002t0001g0028a0001c0002t0001g0131a0006c0017t0001g0147 | 5 | 400 | 0.0125 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 400 | 0.0025 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp1 NA18951.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0034a0001c0002t0001g0055others(2): Show | 13 | 400 | 0.0325 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18994.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 2 | 400 | 0.0050 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1037): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0110 | 2 | 400 | 0.0050 | 1044 | c.102 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1037): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 400 | 0.0025 | 1044 | c.102 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1037): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18957.hp2 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0007 | 2 | 155 | 0.0129 | 1044 | c.488 others(1059): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316126 | G | GACACACA others(1037): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0024 | a0024c0032 | a0024c0032t0001 | a0024c0032t0001g0108 | 1 | 155 | 0.0065 | 1044 | c.487 others(1059): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1037): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 350 | 0.0029 | 1044 | c.94- others(1057): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1037): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 314 | 0.0032 | 1044 | c.-25 others(1061): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ICA1_chr7_8108184_8267167 | 8152671 | T | TCTCCTTC others(1037): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 274 | 0.0037 | 1044 | c.804 others(1061): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(1037): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0065 | 1 | 440 | 0.0023 | 1044 | c.103 others(1061): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406082 | T | TGTGTCAC others(1037): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0165 | 1 | 276 | 0.0036 | 1044 | c.*75 others(1053): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 751 | chr2 | TogoVar | |||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(1037): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0269 | 1 | 284 | 0.0035 | 1044 | c.126 others(1061): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
| LRRC7_chr1_69562922_70149364 | 69916118 | T | TATATACA others(1037): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0055 | 1 | 108 | 0.0093 | 1044 | c.648 others(1063): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1037): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0007 | a0007c0018 | a0007c0018t0026 | a0007c0018t0026g0033 | 1 | 276 | 0.0036 | 1044 | c.100 others(1063): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(1037): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057a0001c0001t0005g0060 | 2 | 318 | 0.0063 | 1044 | c.-49 others(1055): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar |