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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELAC2_chr17_12986612_13023027 | 12988925 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 NA18963.hp1 NA18963.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0027 | a0001c0001t0004g0009 a0001c0001t0004g0022 a0001c0001t0004g0058 others(2): Show |
6 | 298 | 0.0201 | 9 | c.*38 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2686 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13009990 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0005a0002c0002t0023a0002c0007t0016 | a0002c0002t0005g0005 a0002c0002t0005g0091 a0002c0002t0005g0096 others(6): Show |
16 | 320 | 0.0500 | 9 | c.738 others(24): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 8/23 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13022550 | C | CTTCCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03209.hp2 HG03831.hp2 |
a0002 | a0002c0002a0002c0007a0002c0008 | a0002c0002t0005a0002c0007t0016a0002c0008t0011 | a0002c0002t0005g0091 a0002c0007t0016g0081 a0002c0008t0011g0021 |
3 | 223 | 0.0135 | 9 | c.-46 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4524 | chr17 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86953180 | G | GATTTATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00639.hp1 others(77): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 others(77): Show |
80 | 194 | 0.4124 | 9 | c.311 others(26): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86993234 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0037 others(37): Show |
40 | 157 | 0.2548 | 9 | c.190 others(28): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG01928.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0153 others(19): Show |
22 | 49 | 0.4490 | 9 | c.488 others(26): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23830625 | C | CACACACA others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0002 | a0001c0001t0010g0005 a0001c0001t0010g0008 a0001c0002t0002g0018 others(4): Show |
7 | 341 | 0.0205 | 9 | c.-48 others(20): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4386 | chr9 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139092399 | T | TAACATAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01256.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0223 a0001c0001t0001g0225 others(7): Show |
10 | 338 | 0.0296 | 9 | c.239 others(28): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139150967 | T | TGAGCCGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(104): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(104): Show |
107 | 340 | 0.3147 | 9 | c.-25 others(30): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37375836 | C | CCCTCCTC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01099.hp1 HG02818.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0024a0001c0002t0066a0001c0002t0067others(5): Show | a0001c0001t0024g0255 a0001c0001t0024g0256 a0001c0002t0066g0233 others(6): Show |
9 | 177 | 0.0508 | 9 | c.-31 others(18): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 3/3 | 303 | chr22 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96210597 | A | ACACACCC others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01993.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 others(1): Show |
4 | 338 | 0.0118 | 9 | c.-2- others(26): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96210598 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03492.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0325 others(2): Show |
5 | 340 | 0.0147 | 9 | c.-2- others(26): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ELK3_chr12_96189375_96274824 | 96228416 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0296 a0001c0001t0001g0329 a0001c0001t0001g0331 others(7): Show |
10 | 80 | 0.1250 | 9 | c.207 others(26): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK4_chr1_205602943_205637011 | 205604005 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(30): Show |
37 | 66 | 0.5606 | 9 | c.*12 others(22): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 3937 | chr1 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95948429 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp2 HG01496.hp1 others(44): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0002others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0006t0004others(9): Show | a0001c0003t0004g0006 a0001c0003t0004g0040 a0001c0003t0005g0031 others(41): Show |
47 | 113 | 0.4159 | 9 | c.148 others(26): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95963725 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01496.hp1 HG02258.hp2 others(19): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0004a0001c0003t0005a0001c0006t0004others(2): Show | a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006 others(16): Show |
22 | 269 | 0.0818 | 9 | c.-20 others(20): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1875 | chr5 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18462367 | G | GTGTGTGG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01943.hp1 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0181 others(3): Show |
6 | 224 | 0.0268 | 9 | c.470 others(24): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18482763 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG02145.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 others(13): Show |
16 | 209 | 0.0766 | 9 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18482794 | T | TTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02896.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176 |
3 | 138 | 0.0217 | 9 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18482794 | T | TTGTTGCT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02148.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0155 others(3): Show |
6 | 141 | 0.0426 | 9 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18524439 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02896.hp1 HG02922.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0011 | a0001c0001t0001a0001c0005t0007a0005c0011t0001 | a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0169 others(2): Show |
5 | 77 | 0.0649 | 9 | c.-23 others(20): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 2370 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36899684 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01261.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 others(1): Show |
4 | 11 | 0.3636 | 9 | c.143 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37221705 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01123.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0002g0030 others(26): Show |
29 | 87 | 0.3333 | 9 | c.780 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 10/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37331333 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG02886.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0004g0063 a0001c0001t0006g0004 a0001c0001t0008g0059 others(6): Show |
9 | 15 | 0.6000 | 9 | c.78+ others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37449431 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 others(15): Show |
18 | 20 | 0.9000 | 9 | c.-83 others(18): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 568 | chr7 | TogoVar | |||||||
ELMO3_chr16_67194131_67209004 | 67195890 | A | ACAGCAGC others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 HG02622.hp2 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0001 | a0001c0001t0001g0005 a0002c0015t0001g0001 |
8 | 302 | 0.0265 | 9 | c.-34 others(20): Show |
ELMO3 | ENSG00000102890.16 | transcript | ENST00000393997.8 | protein_coding | 3240 | chr16 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107599740 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01981.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0002g0089 others(6): Show |
9 | 173 | 0.0520 | 9 | c.-86 others(26): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107655573 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0002g0193 a0001c0001t0002g0253 a0001c0001t0009g0225 others(3): Show |
6 | 66 | 0.0909 | 9 | c.699 others(24): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85364826 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01169.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0001g0128 others(5): Show |
13 | 335 | 0.0388 | 9 | c.199 others(26): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73951647 | C | CACAACAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0171 others(8): Show |
16 | 111 | 0.1441 | 9 | c.148 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73975355 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG02109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(13): Show |
19 | 190 | 0.1000 | 9 | c.-33 others(20): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3165 | chr8 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978304 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 NA18989.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0103 |
3 | 341 | 0.0088 | 9 | c.*54 others(20): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2454 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110069131 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01496.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0063 a0001c0001t0001g0138 a0001c0001t0001g0144 others(28): Show |
31 | 189 | 0.1640 | 9 | c.222 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110090600 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01981.hp1 HG02148.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0278 a0001c0001t0002g0033 a0001c0001t0002g0175 others(8): Show |
11 | 173 | 0.0636 | 9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110094443 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0118 a0001c0001t0001g0189 a0001c0001t0001g0220 others(15): Show |
18 | 201 | 0.0896 | 9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36166319 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02647.hp1 others(4): Show |
a0004a0007 | a0004c0004a0007c0005 | a0004c0004t0009a0004c0004t0016a0004c0004t0041others(2): Show | a0004c0004t0009g0267 a0004c0004t0009g0272 a0004c0004t0016g0271 others(4): Show |
7 | 146 | 0.0479 | 9 | c.195 others(26): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31593227 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01123.hp2 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0027 others(48): Show |
51 | 57 | 0.8947 | 9 | c.382 others(26): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47514055 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(119): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(70): Show |
122 | 184 | 0.6630 | 9 | c.-46 others(18): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 344 | chr3 | TogoVar | |||||||
EMC1_chr1_19210660_19256524 | 19245627 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(139): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0006a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 others(95): Show |
142 | 261 | 0.5441 | 9 | c.96- others(22): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093823 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG02071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068 a0001c0001t0001g0260 a0001c0001t0001g0269 others(16): Show |
19 | 265 | 0.0717 | 9 | c.356 others(26): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0033 others(3): Show |
7 | 164 | 0.0427 | 9 | c.259 others(26): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99830546 | C | CTTTTTGT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01884.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0049 a0001c0003t0001g0169 a0001c0003t0001g0211 others(21): Show |
24 | 282 | 0.0851 | 9 | c.68- others(26): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99892986 | T | TTGGTTGT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(119): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(26): Show | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 others(118): Show |
122 | 286 | 0.4266 | 9 | c.548 others(26): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927869 | A | AGTGGTGG others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp1 HG03579.hp2 others(2): Show |
a0001a0003 | a0001c0003a0001c0005a0003c0002 | a0001c0003t0001a0001c0005t0001a0003c0002t0001 | a0001c0003t0001g0047 a0001c0003t0001g0049 a0001c0003t0001g0211 others(2): Show |
5 | 273 | 0.0183 | 9 | c.190 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927895 | T | TGGGGGTG others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01169.hp2 others(12): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0004t0004others(4): Show | a0001c0003t0001g0044 a0001c0003t0001g0055 a0001c0003t0001g0056 others(12): Show |
15 | 34 | 0.4412 | 9 | c.190 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927940 | T | TGGTGGTG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02273.hp2 NA18991.hp2 others(1): Show |
a0003 | a0003c0002a0003c0010 | a0003c0002t0001a0003c0002t0006a0003c0010t0006 | a0003c0002t0001g0220 a0003c0002t0006g0098 a0003c0002t0006g0230 others(1): Show |
4 | 285 | 0.0140 | 9 | c.190 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928207 | T | TGGTGGTG others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0013 | a0001c0003t0001g0044 a0001c0003t0001g0055 a0001c0003t0001g0056 others(2): Show |
5 | 286 | 0.0175 | 9 | c.190 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML2_chr19_45604400_45644397 | 45611499 | C | CTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02280.hp2 others(9): Show |
a0001a0005a0012 | a0001c0001a0005c0005a0012c0022 | a0001c0001t0001a0005c0005t0001a0012c0022t0002 | a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0154 others(8): Show |
12 | 79 | 0.1519 | 9 | c.182 others(28): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 18/18 | chr19 | TogoVar | |||||||
EML2_chr19_45604400_45644397 | 45615519 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0001a0003a0016others(1): Show | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(54): Show |
68 | 166 | 0.4096 | 9 | c.159 others(26): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 16/18 | chr19 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0121 a0001c0001t0002g0186 a0001c0001t0002g0331 others(56): Show |
59 | 105 | 0.5619 | 9 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |