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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(654): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0071 | 1 | 156 | 0.0064 | 661 | c.358 others(678): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(654): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 30 | 0.0333 | 661 | c.433 others(678): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCTTC others(654): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0131 | 1 | 131 | 0.0076 | 661 | c.773 others(676): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(654): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00621.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 others(13): Show |
19 | 127 | 0.1496 | 661 | c.255 others(680): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(654): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0018 | a0011c0018t0019 | a0011c0018t0019g0183 | 1 | 140 | 0.0071 | 661 | c.*48 others(672): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3287456 | C | CGCCCCGC others(654): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0023 | a0010c0023t0025 | a0010c0023t0025g0007 | 1 | 205 | 0.0049 | 661 | c.438 others(680): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(654): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(67): Show |
a0002a0005a0008others(2): Show | a0002c0002a0002c0009a0002c0010others(5): Show | a0002c0002t0001a0002c0009t0001a0002c0010t0001others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 others(7): Show |
70 | 71 | 0.9859 | 661 | c.-25 others(672): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(654): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 2 | 0.5000 | 661 | c.-25 others(672): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(654): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp1 |
a0001a0002 | a0001c0006a0002c0024 | a0001c0006t0002a0002c0024t0002 | a0001c0006t0002g0022 a0002c0024t0002g0021 |
2 | 3 | 0.6667 | 661 | c.-25 others(672): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(654): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 7 | 8 | 0.8750 | 661 | c.-25 others(672): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 467526 | G | GTCAGGGA others(654): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 289 | 0.0035 | 661 | c.809 others(678): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(654): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 3 | 0.3333 | 661 | c.159 others(678): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467191 | A | AGAGCGCG others(654): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0180 | 1 | 340 | 0.0029 | 661 | c.72+ others(676): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467191 | A | AGAGCGCG others(654): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0181 | 1 | 340 | 0.0029 | 661 | c.72+ others(676): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467191 | A | AGAGCGCG others(654): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(26): Show |
a0003a0014a0023others(1): Show | a0003c0003a0003c0063a0014c0016others(2): Show | a0003c0003t0001a0003c0063t0001a0014c0016t0001others(2): Show | a0003c0003t0001g0005 a0003c0003t0001g0174 a0003c0003t0001g0175 others(25): Show |
29 | 368 | 0.0788 | 661 | c.72+ others(676): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467191 | A | AGAGCGCG others(654): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0182 a0003c0003t0001g0183 |
2 | 341 | 0.0059 | 661 | c.72+ others(676): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467200 | C | CAGGGAGC others(654): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0211 | 1 | 380 | 0.0026 | 661 | c.72+ others(676): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467288 | G | GCCAGGGA others(654): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0212 | 1 | 380 | 0.0026 | 661 | c.72+ others(674): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106467492 | G | GCCATGAC others(654): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0139 | 1 | 321 | 0.0031 | 661 | c.72+ others(674): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665328 | T | TTTCTTTT others(654): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0106 | 1 | 193 | 0.0052 | 661 | c.348 others(680): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43280872 | C | CCCTCCTG others(654): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0193 | 1 | 265 | 0.0038 | 661 | c.484 others(680): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(654): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 40 | 0.0250 | 661 | c.77- others(678): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(654): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 45 | 0.0222 | 661 | c.22+ others(678): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(654): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0240 | 1 | 6 | 0.1667 | 661 | c.949 others(676): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(654): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 6 | 0.1667 | 661 | c.949 others(676): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45531241 | A | AGGGGGAG others(654): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 315 | 0.0032 | 661 | c.949 others(676): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55500919 | A | ATATTATA others(654): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0151 | 1 | 334 | 0.0030 | 661 | c.*17 others(680): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(654): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 661 | c.*12 others(672): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965130 | A | ACCCCAAT others(654): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0138 | 1 | 176 | 0.0057 | 661 | c.72+ others(678): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(654): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0009 others(4): Show |
7 | 13 | 0.5385 | 661 | c.142 others(682): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273438 | A | ACATCAGA others(654): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0315 | 1 | 381 | 0.0026 | 661 | c.228 others(680): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THNSL2_chr2_88165346_88191627 | 88181086 | G | GAGAGCTA others(654): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 50 | 0.0200 | 661 | c.803 others(678): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
THNSL2_chr2_88165346_88191627 | 88181115 | T | TCTCTCCT others(654): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 1 | 49 | 0.0204 | 661 | c.803 others(678): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(654): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19066.hp1 |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0001a0008c0007t0003 | a0002c0002t0001g0023 a0008c0007t0003g0060 |
2 | 11 | 0.1818 | 661 | c.-25 others(680): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(654): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 10 | 0.1000 | 661 | c.-25 others(680): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321813 | A | ACACGCAC others(654): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02055.hp1 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0007c0015t0001 | a0001c0001t0001g0127 a0007c0015t0001g0128 a0007c0015t0001g0129 |
3 | 409 | 0.0073 | 661 | c.961 others(676): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(654): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 230 | 0.0043 | 661 | c.961 others(676): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(654): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 230 | 0.0043 | 661 | c.961 others(676): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028634 | C | CCTCGTAA others(654): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19000.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0085 a0003c0003t0001g0087 |
2 | 192 | 0.0104 | 661 | c.225 others(680): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTTGGGGG others(654): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0214 | 1 | 269 | 0.0037 | 661 | c.218 others(676): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGAGGCT others(654): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0180 | 1 | 74 | 0.0135 | 661 | c.218 others(678): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(654): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG02965.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0026 | a0001c0001t0015g0036 a0001c0001t0026g0029 |
4 | 5 | 0.8000 | 661 | c.-32 others(672): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(654): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 NA18941.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0004g0004 a0001c0001t0008g0011 a0001c0001t0010g0010 others(1): Show |
6 | 7 | 0.8571 | 661 | c.-32 others(672): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292824 | G | GTGCCCGG others(654): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0376 | 1 | 309 | 0.0032 | 661 | c.339 others(678): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293000 | A | ACAAGTTA others(654): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 258 | 0.0039 | 661 | c.339 others(678): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293584 | T | TCAGCCAC others(654): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 263 | 0.0038 | 661 | c.339 others(678): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(654): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 240 | 0.0042 | 661 | c.340 others(678): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501081 | G | GGGCCCTC others(654): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0029 | a0001c0029t0010 | a0001c0029t0010g0289 | 1 | 303 | 0.0033 | 661 | c.268 others(680): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(654): Show |
intron_variant | MODIFIER | HG02717.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0193 a0001c0004t0002g0073 |
2 | 73 | 0.0274 | 661 | c.205 others(680): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(654): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0207 a0001c0001t0001g0223 others(2): Show |
6 | 14 | 0.4286 | 661 | c.4-1 others(674): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |