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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZFYVE9_chr1_52137089_52351634 | 52348035 | A | ATGT | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02896.hp2 NA20300.hp1 |
a0001a0002a0018 | a0001c0001a0002c0002a0018c0013 | a0001c0001t0002a0002c0002t0001a0018c0013t0001 | a0001c0001t0002g0200 a0002c0002t0001g0018 a0018c0013t0001g0019 |
3 | 208 | 0.0144 | 3 | c.*18 others(14): Show |
ZFYVE9 | ENSG00000157077.16 | transcript | ENST00000287727.8 | protein_coding | 1402 | chr1 | TogoVar | |||||||
ZFY_chrY_2930381_2987506 | 2938154 | A | ATTT | intron_variant | MODIFIER | NA18612.hp1 NA18944.hp1 NA18966.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(7): Show |
10 | 47 | 0.2128 | 3 | c.-29 others(20): Show |
ZFY | ENSG00000067646.12 | transcript | ENST00000155093.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
ZFY_chrY_2930381_2987506 | 2956685 | A | ACCC | intron_variant | MODIFIER | HG00642.hp1 NA18989.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0002g0085 |
3 | 24 | 0.1250 | 3 | c.61+ others(18): Show |
ZFY | ENSG00000067646.12 | transcript | ENST00000155093.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
ZFY_chrY_2930381_2987506 | 2977180 | C | CAAA | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0058 others(11): Show |
14 | 35 | 0.4000 | 3 | c.108 others(20): Show |
ZFY | ENSG00000067646.12 | transcript | ENST00000155093.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
ZGLP1_chr19_10299803_10314815 | 10301479 | G | GTTT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0072 others(6): Show |
15 | 131 | 0.1145 | 3 | c.*36 others(14): Show |
ZGLP1 | ENSG00000220201.8 | transcript | ENST00000707000.1 | protein_coding | 3323 | chr19 | TogoVar | |||||||
ZGLP1_chr19_10299803_10314815 | 10306101 | A | ATAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 others(19): Show |
124 | 429 | 0.2890 | 3 | c.504 others(18): Show |
ZGLP1 | ENSG00000220201.8 | transcript | ENST00000707000.1 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZGLP1_chr19_10299803_10314815 | 10311703 | A | ATTT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01978.hp1 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
13 | 303 | 0.0429 | 3 | c.-22 others(14): Show |
ZGLP1 | ENSG00000220201.8 | transcript | ENST00000707000.1 | protein_coding | 1889 | chr19 | TogoVar | |||||||
ZGLP1_chr19_10299803_10314815 | 10312172 | A | ATTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01257.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0083 others(2): Show |
12 | 206 | 0.0583 | 3 | c.-26 others(14): Show |
ZGLP1 | ENSG00000220201.8 | transcript | ENST00000707000.1 | protein_coding | 2358 | chr19 | TogoVar | |||||||
ZGPAT_chr20_63703039_63741142 | 63724363 | T | TAAA | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0172 others(7): Show |
10 | 108 | 0.0926 | 3 | c.585 others(20): Show |
ZGPAT | ENSG00000197114.12 | transcript | ENST00000355969.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZGPAT_chr20_63703039_63741142 | 63731346 | T | TTGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(236): Show |
267 | 344 | 0.7762 | 3 | c.585 others(20): Show |
ZGPAT | ENSG00000197114.12 | transcript | ENST00000355969.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZGRF1_chr4_112534339_112641909 | 112535210 | C | CAAA | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02145.hp1 HG02922.hp1 others(4): Show |
a0002a0008a0010 | a0002c0002a0008c0010a0010c0012 | a0002c0002t0002a0008c0010t0002a0010c0012t0002 | a0002c0002t0002g0004 a0002c0002t0002g0131 a0002c0002t0002g0142 others(4): Show |
7 | 185 | 0.0378 | 3 | c.*43 others(14): Show |
ZGRF1 | ENSG00000138658.16 | transcript | ENST00000505019.6 | protein_coding | 4128 | chr4 | TogoVar | |||||||
ZGRF1_chr4_112534339_112641909 | 112535236 | A | AAAC | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 others(7): Show |
10 | 211 | 0.0474 | 3 | c.*43 others(14): Show |
ZGRF1 | ENSG00000138658.16 | transcript | ENST00000505019.6 | protein_coding | 4102 | chr4 | TogoVar | |||||||
ZGRF1_chr4_112534339_112641909 | 112546072 | G | GTAA | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02717.hp1 others(7): Show |
a0001a0018a0020 | a0001c0001a0018c0027a0020c0032 | a0001c0001t0001a0018c0027t0001a0020c0032t0001 | a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0088 others(6): Show |
10 | 67 | 0.1493 | 3 | c.559 others(22): Show |
ZGRF1 | ENSG00000138658.16 | transcript | ENST00000505019.6 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
ZGRF1_chr4_112534339_112641909 | 112561911 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01257.hp2 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0002a0004c0004t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0253 a0001c0001t0001g0276 others(12): Show |
18 | 83 | 0.2169 | 3 | c.469 others(20): Show |
ZGRF1 | ENSG00000138658.16 | transcript | ENST00000505019.6 | protein_coding | 18/27 | chr4 | TogoVar | |||||||
ZHX1_chr8_123243456_123279286 | 123249837 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 a0001c0001t0004g0030 a0001c0001t0004g0131 others(1): Show |
8 | 176 | 0.0455 | 3 | c.*48 others(12): Show |
ZHX1 | ENSG00000165156.15 | transcript | ENST00000395571.8 | protein_coding | 4/4 | 3487 | chr8 | TogoVar | ||||||
ZHX1_chr8_123243456_123279286 | 123256911 | C | CATT | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02647.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0004c0005t0003 | a0001c0001t0002g0092 a0001c0001t0003g0007 a0001c0001t0003g0137 others(4): Show |
11 | 268 | 0.0410 | 3 | c.-22 others(20): Show |
ZHX1 | ENSG00000165156.15 | transcript | ENST00000395571.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
ZHX1_chr8_123243456_123279286 | 123272973 | A | ATTT | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02809.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0003 | a0001c0001t0003g0007 a0001c0001t0003g0137 a0001c0001t0003g0138 others(2): Show |
9 | 242 | 0.0372 | 3 | c.-34 others(22): Show |
ZHX1 | ENSG00000165156.15 | transcript | ENST00000395571.8 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
ZHX2_chr8_122776655_122979510 | 122850639 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0050 others(37): Show |
40 | 132 | 0.3030 | 3 | c.-28 others(24): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122871728 | C | CAAA | intron_variant | MODIFIER | HG02080.hp1 HG02257.hp2 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0060 a0001c0002t0001g0013 a0001c0002t0004g0052 others(3): Show |
6 | 55 | 0.1091 | 3 | c.-22 others(22): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122930556 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0035a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0035g0068 a0001c0002t0001g0122 a0001c0002t0002g0131 others(10): Show |
13 | 146 | 0.0890 | 3 | c.-21 others(24): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122932310 | A | ATTC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(105): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(105): Show |
108 | 284 | 0.3803 | 3 | c.-21 others(24): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122937933 | G | GTTT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01981.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(6): Show | a0001c0001t0001g0041 a0001c0001t0005g0273 a0001c0001t0005g0283 others(10): Show |
13 | 69 | 0.1884 | 3 | c.-21 others(24): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122945436 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0183 a0001c0001t0001g0250 a0001c0001t0005g0274 others(12): Show |
15 | 59 | 0.2542 | 3 | c.-21 others(22): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122955069 | C | CGGG | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0013a0001c0002t0026others(14): Show | a0001c0001t0001g0092 a0001c0001t0001g0166 a0001c0002t0013g0262 others(17): Show |
20 | 150 | 0.1333 | 3 | c.*4+ others(18): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122955839 | A | ATTT | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0161 a0001c0001t0005g0263 a0001c0001t0010g0056 others(4): Show |
7 | 160 | 0.0438 | 3 | c.*4+ others(18): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX2_chr8_122776655_122979510 | 122971611 | C | CAAA | intron_variant | MODIFIER | HG01928.hp1 HG01928.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0002g0078 others(9): Show |
12 | 73 | 0.1644 | 3 | c.*5- others(18): Show |
ZHX2 | ENSG00000178764.8 | transcript | ENST00000314393.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZHX3_chr20_41173455_41322731 | 41189959 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(276): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0032 others(275): Show |
279 | 358 | 0.7793 | 3 | c.286 others(22): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
ZHX3_chr20_41173455_41322731 | 41238992 | C | CTTT | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01361.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0139 others(11): Show |
14 | 175 | 0.0800 | 3 | c.-15 others(24): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
ZHX3_chr20_41173455_41322731 | 41292013 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0152 a0001c0001t0001g0240 a0001c0001t0001g0271 others(71): Show |
74 | 143 | 0.5175 | 3 | c.-24 others(24): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
ZHX3_chr20_41173455_41322731 | 41299871 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0018a0001c0001t0028others(5): Show | a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0007g0045 others(18): Show |
21 | 261 | 0.0805 | 3 | c.-24 others(24): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
ZHX3_chr20_41173455_41322731 | 41322086 | T | TATC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(273): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0032 others(272): Show |
276 | 358 | 0.7710 | 3 | c.-48 others(14): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 4356 | chr20 | TogoVar | |||||||
ZIC2_chr13_99976784_99991765 | 99977575 | C | CTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0014 others(3): Show |
11 | 162 | 0.0679 | 3 | c.-44 others(14): Show |
ZIC2 | ENSG00000043355.12 | transcript | ENST00000376335.8 | protein_coding | 4208 | chr13 | TogoVar | |||||||
ZIC2_chr13_99976784_99991765 | 99982753 | C | CCCA | disruptive_inframe_insertion | MODERATE | HG01192.hp2 HG01243.hp2 HG01981.hp1 others(22): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0006 a0002c0002t0003g0003 a0002c0002t0003g0006 others(5): Show |
25 | 441 | 0.0567 | 3 | c.716 others(10): Show |
p.His others(6): Show |
ZIC2 | ENSG00000043355.12 | transcript | ENST00000376335.8 | protein_coding | 1/3 | 1000/2963 | 719/1599 | 240/532 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
ZIC2_chr13_99976784_99991765 | 99985836 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0013 | a0001c0001t0006g0005 a0001c0001t0012g0004 a0001c0001t0013g0005 |
17 | 270 | 0.0630 | 3 | c.*16 others(12): Show |
ZIC2 | ENSG00000043355.12 | transcript | ENST00000376335.8 | protein_coding | 3/3 | 171 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ZIC5_chr13_99957964_99976767 | 99970413 | T | TGGC | disruptive_inframe_insertion | MODERATE | HG02080.hp1 HG02738.hp1 HG02970.hp2 others(4): Show |
a0007a0008 | a0007c0008a0008c0019 | a0007c0008t0001a0007c0008t0002a0007c0008t0003others(4): Show | a0007c0008t0001g0143 a0007c0008t0002g0141 a0007c0008t0003g0140 others(4): Show |
7 | 248 | 0.0282 | 3 | c.118 others(12): Show |
p.Pro others(6): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 1354/4497 | 1190/1920 | 397/639 | chr13 | TogoVar | |||
ZIM2_chr19_56769547_56845726 | 56772631 | T | TAAA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03139.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0154 a0001c0001t0001g0171 others(5): Show |
8 | 34 | 0.2353 | 3 | c.*20 others(14): Show |
ZIM2 | ENSG00000269699.7 | transcript | ENST00000629319.3 | protein_coding | 1915 | chr19 | TogoVar | |||||||
ZIM2_chr19_56769547_56845726 | 56836969 | C | CAAA | intron_variant | MODIFIER | HG02004.hp2 HG02056.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0003a0001c0003t0001a0002c0004t0001others(2): Show | a0001c0001t0003g0097 a0001c0003t0001g0290 a0001c0003t0001g0295 others(5): Show |
8 | 24 | 0.3333 | 3 | c.-31 others(20): Show |
ZIM2 | ENSG00000269699.7 | transcript | ENST00000629319.3 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
ZKSCAN1_chr7_100010596_100046689 | 100021116 | C | CTTT | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01109.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0219 others(21): Show |
28 | 178 | 0.1573 | 3 | c.-88 others(20): Show |
ZKSCAN1 | ENSG00000106261.17 | transcript | ENST00000324306.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZKSCAN1_chr7_100010596_100046689 | 100025318 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(68): Show |
96 | 341 | 0.2815 | 3 | c.580 others(20): Show |
ZKSCAN1 | ENSG00000106261.17 | transcript | ENST00000324306.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZKSCAN1_chr7_100010596_100046689 | 100031273 | A | ATTT | intron_variant | MODIFIER | HG00438.hp2 HG01261.hp1 HG01952.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0189 others(16): Show |
20 | 57 | 0.3509 | 3 | c.799 others(18): Show |
ZKSCAN1 | ENSG00000106261.17 | transcript | ENST00000324306.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZKSCAN2_chr16_25231001_25262845 | 25232065 | C | CTTT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01256.hp1 others(41): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0014a0002c0002t0002a0002c0002t0042others(8): Show | a0001c0001t0014g0070 a0002c0002t0002g0002 a0002c0002t0002g0153 others(19): Show |
44 | 178 | 0.2472 | 3 | c.*77 others(14): Show |
ZKSCAN2 | ENSG00000155592.16 | transcript | ENST00000328086.12 | protein_coding | 3935 | chr16 | TogoVar | |||||||
ZKSCAN2_chr16_25231001_25262845 | 25248317 | A | AAAC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(131): Show |
a0002a0004a0006others(6): Show | a0002c0002a0002c0010a0004c0004others(9): Show | a0002c0002t0002a0002c0002t0017a0002c0002t0019others(23): Show | a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0026 others(59): Show |
134 | 388 | 0.3454 | 3 | c.806 others(18): Show |
ZKSCAN2 | ENSG00000155592.16 | transcript | ENST00000328086.12 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
ZKSCAN2_chr16_25231001_25262845 | 25257930 | A | AGGG | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00733.hp1 others(36): Show |
a0001a0017a0020 | a0001c0001a0001c0005a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(22): Show |
39 | 116 | 0.3362 | 3 | c.-80 others(12): Show |
ZKSCAN2 | ENSG00000155592.16 | transcript | ENST00000328086.12 | protein_coding | 86 | chr16 | TogoVar | |||||||
ZKSCAN3_chr6_28344947_28374172 | 28367885 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp2 others(46): Show |
a0002 | a0002c0005 | a0002c0005t0004a0002c0005t0005a0002c0005t0013 | a0002c0005t0004g0016 a0002c0005t0004g0029 a0002c0005t0004g0030 others(25): Show |
49 | 135 | 0.3630 | 3 | c.*16 others(14): Show |
ZKSCAN3 | ENSG00000189298.14 | transcript | ENST00000252211.7 | protein_coding | 6/6 | 1613 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZKSCAN4_chr6_28236697_28257269 | 28237918 | A | ATTT | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03130.hp1 HG03225.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0003t0003a0002c0002t0003others(1): Show | a0001c0001t0004g0005 a0001c0003t0003g0081 a0002c0002t0003g0004 others(1): Show |
7 | 204 | 0.0343 | 3 | c.*71 others(14): Show |
ZKSCAN4 | ENSG00000187626.9 | transcript | ENST00000377294.3 | protein_coding | 3778 | chr6 | TogoVar | |||||||
ZKSCAN4_chr6_28236697_28257269 | 28241620 | T | TATC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp2 others(115): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0077 a0001c0001t0004g0005 a0001c0001t0004g0034 others(24): Show |
118 | 418 | 0.2823 | 3 | c.*34 others(14): Show |
ZKSCAN4 | ENSG00000187626.9 | transcript | ENST00000377294.3 | protein_coding | 76 | chr6 | TogoVar | |||||||
ZKSCAN5_chr7_99499662_99539700 | 99518670 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01192.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0100 others(4): Show |
7 | 145 | 0.0483 | 3 | c.554 others(20): Show |
ZKSCAN5 | ENSG00000196652.12 | transcript | ENST00000326775.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZKSCAN7_chr3_44550193_44577158 | 44558782 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01123.hp1 others(31): Show |
a0003a0009a0010 | a0003c0003a0009c0009a0010c0010 | a0003c0003t0002a0003c0003t0004a0003c0003t0006others(2): Show | a0003c0003t0002g0003 a0003c0003t0002g0011 a0003c0003t0002g0017 others(12): Show |
34 | 100 | 0.3400 | 3 | c.423 others(20): Show |
ZKSCAN7 | ENSG00000196345.13 | transcript | ENST00000426540.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZMAT1_chrX_101877290_101937027 | 101931877 | T | TGCC | disruptive_inframe_insertion | MODERATE | HG02451.hp1 NA18971.hp1 NA18975.hp2 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0002a0003c0003t0006a0007c0007t0001 | a0003c0003t0002g0155 a0003c0003t0006g0157 a0007c0007t0001g0156 |
3 | 248 | 0.0121 | 3 | c.129 others(10): Show |
p.Ala others(5): Show |
ZMAT1 | ENSG00000166432.16 | transcript | ENST00000651725.2 | protein_coding | 1/6 | 150/3327 | 131/2088 | 44/695 | chrX | TogoVar | |||
ZMAT2_chr5_140695447_140711686 | 140701024 | G | GTGC | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 14 | 378 | 0.0370 | 3 | c.112 others(18): Show |
ZMAT2 | ENSG00000146007.11 | transcript | ENST00000274712.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |