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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEFSEC_chr3_128148481_128413646 | 128211837 | CTTTTTCT others(7): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG02055.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0026a0001c0003t0001g0204a0001c0003t0001g0206 | 3 | 272 | 0.0110 | -14 | c.317 others(33): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128252165 | AGAGCCCT others(7): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0089 | 1 | 272 | 0.0037 | -14 | c.524 others(31): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128270344 | CGGACCCC others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 272 | 0.0037 | -14 | c.786 others(31): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128368209 | ATCACCTG others(7): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 272 | 0.0037 | -14 | c.160 others(33): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 6/6 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128368435 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(147): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0042others(147): Show | 150 | 272 | 0.5515 | -14 | c.160 others(35): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127965106 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 342 | 0.0029 | -14 | c.147 others(33): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108625772 | CTCTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03710.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(1): Show | 4 | 272 | 0.0147 | -14 | c.556 others(31): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108625774 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(103): Show | 108 | 272 | 0.3971 | -14 | c.556 others(31): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36150962 | TGTGTGTG others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0155a0001c0001t0004g0248a0001c0001t0005g0021others(20): Show | 23 | 346 | 0.0665 | -14 | c.-29 others(25): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2291 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36209635 | GGGCTGCA others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(332): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0080a0001c0001t0001g0082a0001c0001t0001g0086others(332): Show | 335 | 346 | 0.9682 | -14 | c.879 others(33): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36219800 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02698.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0023 | a0001c0001t0001g0278a0001c0001t0015g0245a0001c0001t0015g0246others(2): Show | 5 | 346 | 0.0145 | -14 | c.879 others(33): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36229956 | GGTACAGC others(7): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp2 others(59): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0080a0001c0001t0001g0089a0001c0001t0001g0092others(59): Show | 62 | 346 | 0.1792 | -14 | c.879 others(31): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36248994 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 346 | 0.0029 | -14 | c.930 others(31): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105583351 | GGTTCTCT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(288): Show | 382 | 428 | 0.8925 | -14 | c.-19 others(25): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1859 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105583358 | TGGGGTCC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 2 | 428 | 0.0047 | -14 | c.-19 others(25): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1866 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89835585 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01496.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0120others(27): Show | 30 | 284 | 0.1056 | -14 | c.411 others(33): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89898035 | TTCTAGCT others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171a0001c0001t0004g0172a0001c0001t0004g0173others(1): Show | 4 | 284 | 0.0141 | -14 | c.410 others(33): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89917084 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0001t0014a0001c0004t0006 | a0001c0001t0010g0237a0001c0001t0014g0240a0001c0004t0006g0284 | 3 | 284 | 0.0106 | -14 | c.410 others(33): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47325923 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA20752.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0072a0001c0006t0002g0092 | 2 | 356 | 0.0056 | -14 | c.-24 others(31): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47441354 | TTGTGTGT others(7): Show |
T | downstream_gene_variant | MODIFIER | NA18984.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0226 | 1 | 356 | 0.0028 | -14 | c.*64 others(23): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 43 | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29994133 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02922.hp2 others(4): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0009 | a0001c0001t0001a0004c0004t0002a0007c0009t0002 | a0001c0001t0001g0156a0004c0004t0002g0097a0004c0004t0002g0098others(4): Show | 7 | 248 | 0.0282 | -14 | c.924 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 248 | 0.0040 | -14 | c.104 others(33): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30097037 | CATATACA others(7): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 248 | 0.0040 | -14 | c.432 others(33): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43524509 | CGTGTGTG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0217 | 1 | 290 | 0.0035 | -14 | c.*43 others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4268 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02622.hp2 HG02735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0038 | a0001c0001t0001a0002c0038t0001 | a0001c0001t0001g0039a0001c0001t0001g0047a0001c0001t0001g0050others(3): Show | 6 | 290 | 0.0207 | -14 | c.287 others(31): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43689349 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0247 | 1 | 290 | 0.0035 | -14 | c.103 others(33): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43760213 | AAAAAAAG others(7): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG01934.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(3): Show | 6 | 290 | 0.0207 | -14 | c.441 others(31): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 5/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43766316 | AGCCACCA others(7): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0092 | 1 | 290 | 0.0035 | -14 | c.352 others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43784555 | ATACACAT others(7): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01943.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0072a0003c0003t0001g0214 | 2 | 290 | 0.0069 | -14 | c.-7- others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43784641 | ACACATAT others(7): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0111a0002c0002t0004g0288 | 2 | 290 | 0.0069 | -14 | c.-7- others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43784672 | TATATACA others(7): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0254 | 1 | 290 | 0.0035 | -14 | c.-7- others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63562445 | TTATTTAT others(7): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp2 HG01192.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0226a0001c0001t0001g0227others(15): Show | 25 | 374 | 0.0668 | -14 | c.149 others(31): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB7_chr1_63518525_63577693 | 63569505 | AGGGAACT others(7): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 374 | 0.0027 | -14 | c.170 others(32): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32860493 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(33): Show |
a0001a0004a0005others(9): Show | a0001c0001a0004c0004a0005c0008others(9): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0003others(10): Show | a0001c0001t0001g0061a0001c0001t0001g0088a0001c0001t0001g0242others(33): Show | 36 | 284 | 0.1268 | -14 | c.-11 others(31): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCC1_chr3_128996304_129045742 | 129045278 | AGAATGGC others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0038 | 1 | 354 | 0.0028 | -14 | c.*54 others(25): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 4537 | chr3 | TogoVar | ||||||
EFEMP1_chr2_55860967_55928782 | 55904971 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(204): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(172): Show | 207 | 350 | 0.5914 | -14 | c.517 others(33): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908588 | GAGAGAGA others(7): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0317 | 1 | 344 | 0.0029 | -14 | c.128 others(33): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908592 | GAGAGAGA others(7): Show |
G | intron_variant | MODIFIER | HG03710.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 344 | 0.0058 | -14 | c.128 others(33): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52496208 | CCACACAC others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0074 | 1 | 396 | 0.0025 | -14 | c.*38 others(25): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 3872 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
EFHC2_chrX_44142872_44348672 | 44209019 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0084a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | 221 | 0.0136 | -14 | c.175 others(35): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0167a0001c0001t0004g0150 | 2 | 221 | 0.0091 | -14 | c.607 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282633 | GGGGTGGG others(7): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01496.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0005a0002c0002t0002a0003c0003t0002 | a0001c0001t0005g0192a0001c0001t0005g0212a0002c0002t0002g0077others(3): Show | 6 | 221 | 0.0272 | -14 | c.232 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44294249 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0118 | 1 | 221 | 0.0045 | -14 | c.231 others(33): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232677264 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0287 | 1 | 382 | 0.0026 | -14 | c.586 others(31): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232687348 | AAAAAAAA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0002g0142others(53): Show | 56 | 382 | 0.1466 | -14 | c.*56 others(25): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4573 | chr2 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15405939 | TCCAGTGC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(109): Show | 154 | 424 | 0.3632 | -14 | c.-40 others(25): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 3948 | chr1 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15433516 | AGCCGATA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0153 | 2 | 424 | 0.0047 | -14 | c.*47 others(25): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 3178 | chr1 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15434992 | CTGTCTTC others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(164): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0042others(129): Show | 167 | 424 | 0.3939 | -14 | c.*62 others(25): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 4654 | chr1 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82185169 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 368 | 0.0027 | -14 | c.175 others(35): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT others(7): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0159 | 1 | 294 | 0.0034 | -14 | c.*31 others(23): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 318 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |