view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENDOG_chr9_128813500_128827676 | 128813542 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(12): Show | 114 | 420 | 0.2714 | 8 | c.-51 others(19): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 4957 | chr9 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47728252 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0091others(1): Show | 7 | 422 | 0.0166 | 8 | c.-28 others(19): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2763 | chr12 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47728284 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0028 | 3 | 422 | 0.0071 | 8 | c.-28 others(19): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2795 | chr12 | TogoVar | |||||||
ENDOU_chr12_47704734_47730490 | 47728284 | C | CACACAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp1 NA18969.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0002 | a0001c0001t0002g0117a0004c0006t0002g0048a0004c0006t0002g0123 | 4 | 422 | 0.0095 | 8 | c.-28 others(19): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 2795 | chr12 | TogoVar | |||||||
ENDOV_chr17_80410167_80443086 | 80437322 | C | CCCCAAAG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0105a0001c0001t0013g0130a0001c0001t0013g0135others(1): Show | 4 | 420 | 0.0095 | 8 | c.*11 others(19): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 10/10 | 1190 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENG_chr9_127810016_127859658 | 127837774 | G | GCATCCAT others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG04228.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0226a0001c0001t0001g0263 | 3 | 344 | 0.0087 | 8 | c.219 others(25): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127843732 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01975.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070a0001c0001t0001g0310a0001c0001t0001g0316others(5): Show | 9 | 344 | 0.0262 | 8 | c.68- others(21): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENO2_chr12_6909580_6928697 | 6925117 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02809.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0001a0001c0001t0007g0001a0001c0001t0008g0104others(2): Show | 6 | 376 | 0.0160 | 8 | c.*23 others(19): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1421 | chr12 | TogoVar | |||||||
ENO2_chr12_6909580_6928697 | 6925141 | T | TGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0006 | 3 | 376 | 0.0080 | 8 | c.*23 others(19): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1445 | chr12 | TogoVar | |||||||
ENO4_chr10_116844499_116887601 | 116863356 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0046a0001c0001t0001g0082others(26): Show | 36 | 400 | 0.0900 | 8 | c.990 others(23): Show |
ENO4 | ENSG00000188316.16 | transcript | ENST00000341276.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENO4_chr10_116844499_116887601 | 116875561 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0218a0001c0001t0001g0239a0001c0001t0001g0323others(10): Show | 14 | 400 | 0.0350 | 8 | c.134 others(25): Show |
ENO4 | ENSG00000188316.16 | transcript | ENST00000341276.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENO4_chr10_116844499_116887601 | 116882969 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0023a0001c0002t0005 | a0001c0001t0009g0037a0001c0001t0009g0310a0001c0001t0009g0313others(3): Show | 6 | 400 | 0.0150 | 8 | c.*13 others(19): Show |
ENO4 | ENSG00000188316.16 | transcript | ENST00000341276.11 | protein_coding | 369 | chr10 | TogoVar | |||||||
ENOPH1_chr4_82425590_82466177 | 82458077 | A | AGGCGGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(219): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(175): Show | 222 | 366 | 0.6066 | 8 | c.646 others(25): Show |
ENOPH1 | ENSG00000145293.17 | transcript | ENST00000273920.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 683766 | A | ACATTGTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0018a0002c0002t0002 | a0001c0001t0002g0017a0001c0001t0002g0022a0001c0001t0002g0029others(21): Show | 24 | 418 | 0.0574 | 8 | c.742 others(23): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 10/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 701939 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01074.hp2 others(33): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0008 | a0001c0003t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0001c0003t0001g0138a0001c0003t0001g0139a0001c0003t0001g0234others(32): Show | 36 | 418 | 0.0861 | 8 | c.193 others(25): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706801 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(1): Show | a0001c0001t0001g0084a0001c0001t0002g0017a0001c0001t0002g0036others(10): Show | 13 | 418 | 0.0311 | 8 | c.85- others(21): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706801 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02004.hp1 HG02083.hp1 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0013a0003c0004t0003g0347a0003c0004t0003g0348others(13): Show | 17 | 418 | 0.0407 | 8 | c.85- others(21): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0029others(19): Show | 22 | 418 | 0.0526 | 8 | c.85- others(21): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 712650 | C | CGGCGGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 NA18965.hp1 NA18986.hp2 others(4): Show |
a0002a0003 | a0002c0005a0003c0007 | a0002c0005t0001a0003c0007t0002 | a0002c0005t0001g0094a0003c0007t0002g0354a0003c0007t0002g0362others(4): Show | 7 | 418 | 0.0168 | 8 | c.-71 others(15): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 21 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 713470 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(3): Show | a0001c0001t0001g0152a0001c0001t0012g0106a0001c0001t0020g0236others(7): Show | 10 | 418 | 0.0239 | 8 | c.-88 others(17): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247877 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19063.hp2 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0008a0001c0001t0003g0012a0001c0001t0005g0155others(1): Show | 4 | 188 | 0.0213 | 8 | c.161 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43362156 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03540.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0006others(1): Show | a0001c0001t0003g0118a0001c0001t0004g0003a0001c0002t0006g0158others(1): Show | 4 | 188 | 0.0213 | 8 | c.209 others(23): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 5/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43467522 | A | ATTTAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01243.hp1 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0098a0001c0001t0002g0036a0001c0001t0002g0050others(66): Show | 69 | 188 | 0.3670 | 8 | c.-75 others(27): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616166 | C | CTATATAG others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02135.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0063a0001c0001t0003g0123a0001c0001t0004g0044others(20): Show | 23 | 188 | 0.1223 | 8 | c.-21 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616173 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02135.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0063a0001c0001t0003g0123a0001c0001t0004g0044others(19): Show | 22 | 188 | 0.1170 | 8 | c.-21 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43630858 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01258.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0058a0001c0001t0002g0074a0001c0001t0002g0076others(28): Show | 31 | 188 | 0.1649 | 8 | c.-21 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43630860 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0098a0001c0001t0002g0022a0001c0001t0002g0061others(16): Show | 19 | 188 | 0.1011 | 8 | c.-21 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43685873 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0025others(1): Show | a0001c0001t0003g0123a0001c0001t0004g0124a0001c0001t0025g0125others(1): Show | 4 | 188 | 0.0213 | 8 | c.-28 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43719302 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp1 HG01515.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0065a0001c0001t0004g0003a0001c0001t0004g0116others(10): Show | 13 | 188 | 0.0692 | 8 | c.-28 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43756973 | A | AACAACAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0021a0001c0001t0004g0044a0001c0001t0004g0045others(7): Show | 10 | 188 | 0.0532 | 8 | c.-28 others(29): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130617502 | T | TTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 NA18948.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0107a0001c0001t0001g0135 | 3 | 154 | 0.0195 | 8 | c.*78 others(19): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 4822 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130630964 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG03098.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0037others(6): Show | 9 | 154 | 0.0584 | 8 | c.152 others(25): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 13/14 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130632364 | C | CGGGGGGG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 154 | 0.0065 | 8 | c.142 others(25): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 12/14 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130638431 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0122 | 2 | 154 | 0.0130 | 8 | c.113 others(27): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 10/14 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130707507 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 154 | 0.0065 | 8 | c.-38 others(25): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 3/14 | chrX | TogoVar | |||||||
ENOX2_chrX_130617325_130908209 | 130840522 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 154 | 0.0065 | 8 | c.-18 others(29): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 2/14 | chrX | TogoVar | |||||||
ENPEP_chr4_110471155_110570285 | 110558032 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0001t0001g0176a0001c0001t0001g0211a0002c0002t0001g0086others(7): Show | 11 | 312 | 0.0353 | 8 | c.264 others(27): Show |
ENPEP | ENSG00000138792.10 | transcript | ENST00000265162.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ENPEP_chr4_110471155_110570285 | 110558270 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02647.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0005a0002c0002t0005a0006c0008t0021 | a0001c0001t0005g0067a0001c0001t0005g0179a0001c0001t0005g0180others(2): Show | 5 | 312 | 0.0160 | 8 | c.264 others(27): Show |
ENPEP | ENSG00000138792.10 | transcript | ENST00000265162.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131817754 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02074.hp2 HG02486.hp1 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0187others(20): Show | 23 | 292 | 0.0788 | 8 | c.240 others(25): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131837172 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02135.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0082a0001c0001t0003g0248a0001c0001t0003g0251others(10): Show | 13 | 292 | 0.0445 | 8 | c.241 others(27): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131887725 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02647.hp1 others(4): Show |
a0002a0010 | a0002c0002a0010c0022 | a0002c0002t0010a0002c0002t0026a0002c0002t0045others(1): Show | a0002c0002t0010g0001a0002c0002t0010g0180a0002c0002t0010g0234others(3): Show | 7 | 292 | 0.0240 | 8 | c.260 others(27): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131896227 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02622.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0071 | a0001c0001t0002g0097a0001c0001t0002g0170a0001c0001t0071g0143 | 3 | 292 | 0.0103 | 8 | c.*57 others(19): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1073 | chr6 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119569738 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02015.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0219a0001c0006t0001g0299a0001c0006t0001g0300others(1): Show | 4 | 340 | 0.0118 | 8 | c.191 others(25): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119569742 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01109.hp1 others(23): Show |
a0001a0010a0011 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0085a0001c0001t0001g0095a0001c0001t0001g0113others(23): Show | 26 | 340 | 0.0765 | 8 | c.191 others(25): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119605428 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(58): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0082others(56): Show | 61 | 340 | 0.1794 | 8 | c.833 others(25): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 9/24 | chr8 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119610903 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0015 | a0001c0002t0001a0001c0004t0003a0001c0015t0001 | a0001c0002t0001g0012a0001c0002t0001g0037a0001c0002t0001g0038others(6): Show | 9 | 340 | 0.0265 | 8 | c.778 others(25): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 8/24 | chr8 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119634191 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02165.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078 | 3 | 340 | 0.0088 | 8 | c.136 others(25): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 2/24 | chr8 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131646274 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(10): Show | 13 | 278 | 0.0468 | 8 | c.155 others(25): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131678907 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01074.hp1 others(27): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0050a0001c0001t0001g0111others(27): Show | 30 | 278 | 0.1079 | 8 | c.101 others(27): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131678958 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG02027.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0145a0001c0001t0001g0191a0001c0001t0001g0256others(1): Show | 4 | 278 | 0.0144 | 8 | c.101 others(27): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |