| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1599): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 476 | 0.0021 | -1606 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316357 | AGCAGCAC others(1599): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp1 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(15): Show | a0001c0001t0001g0032a0001c0001t0001g0192a0001c0001t0001g0202others(34): Show | 55 | 476 | 0.1156 | -1606 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| SNRPC_chr6_34752505_34778857 | 34754663 | ACTGTAAT others(1598): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 368 | 0.0027 | -1605 | c.-28 others(11): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2841 | chr6 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237973 | TCTGCCTC others(1597): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0044 | 1 | 106 | 0.0094 | -1604 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143859419 | GCCCGGTA others(1596): Show |
G | frameshift_variant | HIGH | NA18942.hp2 | a0173 | a0173c0225 | a0173c0225t0005 | a0173c0225t0005g0107 | 1 | 424 | 0.0024 | -1603 | c.122 others(11): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13909/16005 | 12232/15267 | 4078/5088 | chr8 | TogoVar | ||
| NEDD8_chr14_24211857_24237367 | 24226232 | TTGTAATC others(1596): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 418 | 0.0024 | -1603 | c.18+ others(15): Show |
NEDD8 | ENSG00000129559.13 | transcript | ENST00000250495.10 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| RAB40B_chr17_82649973_82703698 | 82694108 | ACTCCAAA others(1596): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280a0001c0001t0001g0281a0001c0001t0001g0282 | 3 | 338 | 0.0089 | -1603 | c.142 others(17): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143859329 | TCGGCCTC others(1595): Show |
T | disruptive_inframe_deletion | MODERATE | HG00558.hp1 NA18956.hp1 NA18975.hp1 others(2): Show |
a0004a0137 | a0004c0011a0004c0234a0137c0297 | a0004c0011t0001a0004c0234t0005a0137c0297t0001 | a0004c0011t0001g0006a0004c0234t0005g0268a0137c0297t0001g0138 | 5 | 424 | 0.0118 | -1602 | c.123 others(11): Show |
p.Gly others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 12323/15267 | 4108/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143859717 | GGGCCAGG others(1595): Show |
G | conservative_inframe_deletion | MODERATE | HG02055.hp2 | a0101 | a0101c0168 | a0101c0168t0005 | a0101c0168t0005g0238 | 1 | 424 | 0.0024 | -1602 | c.119 others(11): Show |
p.Asp others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13611/16005 | 11935/15267 | 3979/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143860133 | TGGCCGGG others(1595): Show |
T | disruptive_inframe_deletion | MODERATE | HG00544.hp1 HG00733.hp2 HG02027.hp2 others(9): Show |
a0013a0020a0035others(4): Show | a0013c0014a0020c0032a0020c0223others(5): Show | a0013c0014t0008a0013c0014t0011a0020c0032t0008others(7): Show | a0013c0014t0008g0137a0013c0014t0011g0021a0020c0032t0008g0098others(8): Show | 12 | 424 | 0.0283 | -1602 | c.115 others(11): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 11519/15267 | 3840/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143861916 | GCCTCAGG others(1595): Show |
G | conservative_inframe_deletion | MODERATE | NA18997.hp2 | a0234 | a0234c0065 | a0234c0065t0005 | a0234c0065t0005g0291 | 1 | 424 | 0.0024 | -1602 | c.973 others(10): Show |
p.Cys others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11412/16005 | 9736/15267 | 3246/5088 | chr8 | TogoVar | ||
| ZC3H13_chr13_45949465_46057746 | 46000016 | GCTTAAAA others(1594): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 324 | 0.0031 | -1601 | c.944 others(17): Show |
ZC3H13 | ENSG00000123200.17 | transcript | ENST00000679008.1 | protein_coding | 8/18 | chr13 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1593): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01346.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0008others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0018others(7): Show | a0001c0001t0004g0007a0001c0001t0004g0093a0001c0001t0004g0107others(32): Show | 37 | 412 | 0.0898 | -1600 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765486 | TTAGGAAG others(1593): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0377 | 1 | 412 | 0.0024 | -1600 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| OR11H4_chr14_20234286_20249349 | 20236412 | ATAGTATA others(1593): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 2 | 439 | 0.0046 | -1600 | c.-29 others(11): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2873 | chr14 | TogoVar | ||||||
| CLIC2_chrX_155271211_155339614 | 155326050 | ACTACACA others(1592): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 258 | 0.0039 | -1599 | c.57+ others(15): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 1/5 | chrX | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143858534 | CGGCCGGG others(1592): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG02145.hp2 NA18972.hp1 others(1): Show |
a0065a0066a0078others(1): Show | a0065c0149a0066c0148a0078c0177others(1): Show | a0065c0149t0002a0066c0148t0007a0078c0177t0003others(1): Show | a0065c0149t0002g0219a0066c0148t0007g0218a0078c0177t0003g0339others(1): Show | 4 | 424 | 0.0094 | -1599 | c.131 others(11): Show |
p.His others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14794/16005 | 13121/15267 | 4374/5088 | chr8 | TogoVar | ||
| PRRG3_chrX_151690458_151710924 | 151708427 | GGGGTCAC others(1592): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0029a0001c0001t0095a0001c0001t0096others(5): Show | a0001c0001t0029g0029a0001c0001t0095g0004a0001c0001t0096g0031others(5): Show | 8 | 336 | 0.0238 | -1599 | c.*73 others(11): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 2504 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277035 | AGAGGGAG others(1591): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 50 | 0.0200 | -1598 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277749 | AGAGGGAG others(1591): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 50 | 0.0200 | -1598 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| EIF4ENIF1_chr22_31434367_31494842 | 31464496 | GGTGAAAC others(1591): Show |
G | intron_variant | MODIFIER | HG03704.hp2 HG04199.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325a0001c0003t0001g0343 | 2 | 366 | 0.0055 | -1598 | c.298 others(16): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | ||||||
| SPAG9_chr17_50957174_51125868 | 51123990 | AAGTGCTG others(1590): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 292 | 0.0034 | -1597 | c.-49 others(11): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3123 | chr17 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143863761 | GGGCGGCG others(1589): Show |
G | conservative_inframe_deletion | MODERATE | NA18995.hp1 NA19011.hp2 |
a0263a0281 | a0263c0100a0281c0132 | a0263c0100t0002a0281c0132t0002 | a0263c0100t0002g0284a0281c0132t0002g0303 | 2 | 424 | 0.0047 | -1596 | c.789 others(9): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 7897/15267 | 2633/5088 | chr8 | TogoVar | ||
| NXN_chr17_794310_984776 | 940960 | AGTGAACA others(1589): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0007 | a0001c0001t0007g0023a0001c0004t0007g0233 | 2 | 242 | 0.0083 | -1596 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76305142 | CATTTTAG others(1589): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02630.hp1 HG02647.hp1 others(3): Show |
a0013a0021a0039 | a0013c0029a0013c0032a0013c0087others(3): Show | a0013c0029t0009a0013c0032t0009a0013c0087t0040others(3): Show | a0013c0029t0009g0119a0013c0032t0009g0127a0013c0087t0040g0098others(3): Show | 6 | 166 | 0.0361 | -1596 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1444300 | CGGGGCAG others(1588): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0032 | a0004c0032t0008 | a0004c0032t0008g0108 | 1 | 130 | 0.0077 | -1595 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPB41_chr1_28909569_29125041 | 29024355 | CGAGCGTG others(1587): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0160a0001c0001t0015g0175 | 2 | 312 | 0.0064 | -1594 | c.112 others(19): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EYA4_chr6_133236357_133537128 | 133424630 | CCTGCCAA others(1587): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02602.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0002c0002t0001others(5): Show | a0001c0001t0002g0098a0001c0001t0013g0119a0002c0002t0001g0036others(13): Show | 16 | 264 | 0.0606 | -1594 | c.84- others(17): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143862171 | TGGCGGCG others(1586): Show |
T | conservative_inframe_deletion | MODERATE | NA19074.hp1 | a0195 | a0195c0231 | a0195c0231t0001 | a0195c0231t0001g0177 | 1 | 424 | 0.0024 | -1593 | c.949 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11157/16005 | 9490/15267 | 3164/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143862962 | CGGTAGGC others(1586): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00738.hp1 HG00741.hp1 others(27): Show |
a0007a0010a0014others(18): Show | a0007c0013a0007c0273a0010c0015others(21): Show | a0007c0013t0002a0007c0013t0006a0007c0013t0012others(24): Show | a0007c0013t0002g0134a0007c0013t0006g0133a0007c0013t0012g0132others(25): Show | 30 | 424 | 0.0708 | -1593 | c.869 others(10): Show |
p.Gln others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 10366/16005 | 8699/15267 | 2900/5088 | chr8 | TogoVar | ||
| KCNJ16_chr17_70070225_70140608 | 70106701 | CTTTCAGA others(1586): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 330 | 0.0030 | -1593 | c.-19 others(19): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MUC17_chr7_101015081_101063859 | 101038780 | CCACTCCG others(1586): Show |
C | disruptive_inframe_deletion | MODERATE | NA18982.hp1 | a0039 | a0039c0045 | a0039c0045t0003 | a0039c0045t0003g0137 | 1 | 366 | 0.0027 | -1593 | c.736 others(9): Show |
p.Thr others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 7420/14352 | 7365/13482 | 2455/4493 | chr7 | TogoVar | ||
| MUC17_chr7_101015081_101063859 | 101039275 | ATACCAGC others(1586): Show |
A | disruptive_inframe_deletion | MODERATE | HG01496.hp1 HG01943.hp1 HG01981.hp1 |
a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0015 | 3 | 366 | 0.0082 | -1593 | c.787 others(9): Show |
p.Ile others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 7929/14352 | 7874/13482 | 2625/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31028366 | ATCACAGG others(1586): Show |
A | disruptive_inframe_deletion | MODERATE | NA19080.hp2 | a0081 | a0081c0111 | a0081c0111t0003 | a0081c0111t0003g0221 | 1 | 461 | 0.0022 | -1593 | c.296 others(9): Show |
p.Ala others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3193/6019 | 2960/5322 | 987/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1585): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0283 | 1 | 366 | 0.0027 | -1592 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ULK4_chr3_41241599_41967103 | 41375326 | ACAATCCT others(1585): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02572.hp1 others(7): Show |
a0001a0003a0017 | a0001c0001a0003c0002a0017c0019 | a0001c0001t0001a0001c0001t0003a0003c0002t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0051others(7): Show | 10 | 72 | 0.1389 | -1592 | c.367 others(21): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | ||||||
| ODF1_chr8_102546589_102566018 | 102558704 | AAGAACAC others(1582): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 NA19043.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0026 | 3 | 460 | 0.0065 | -1589 | c.321 others(16): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1903278 | TTCATGAT others(1581): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137a0001c0001t0005g0222 | 2 | 264 | 0.0076 | -1588 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| SGSM2_chr17_2332501_2386054 | 2355299 | CCCCATAT others(1581): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 422 | 0.0024 | -1588 | c.134 others(17): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DLGAP1_chr18_3491032_4460307 | 3635343 | AGCCAGGA others(1580): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0021 | a0001c0001t0001g0004a0001c0001t0002g0008a0001c0003t0021g0027 | 3 | 80 | 0.0375 | -1587 | c.159 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343492 | GGCACTTT others(1579): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0106 | 1 | 190 | 0.0053 | -1586 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1344177 | TTTTCCCC others(1579): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0108 | 1 | 190 | 0.0053 | -1586 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1579): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0024 | a0001c0024t0120 | a0001c0024t0120g0274 | 1 | 346 | 0.0029 | -1586 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| HMCN1_chr1_185729391_186195949 | 185814580 | GAGTTACT others(1578): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
a0001a0008a0015others(1): Show | a0001c0001a0001c0027a0008c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(4): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | 92 | 0.0978 | -1585 | c.269 others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1577): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03669.hp2 HG04115.hp2 others(4): Show |
a0001a0005a0012 | a0001c0001a0001c0004a0005c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0119a0001c0001t0004g0037a0001c0001t0004g0043others(4): Show | 7 | 236 | 0.0297 | -1584 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395159 | CGTCCTCC others(1577): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0002g0048a0001c0001t0002g0148others(30): Show | 33 | 236 | 0.1398 | -1584 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154061921 | GGACCCCC others(1577): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0015a0001c0018others(2): Show | a0001c0003t0007a0001c0015t0017a0001c0018t0009others(2): Show | a0001c0003t0007g0024a0001c0015t0017g0036a0001c0018t0009g0023others(2): Show | 5 | 38 | 0.1316 | -1584 | c.243 others(18): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195786322 | GCTGAGGA others(1577): Show |
G | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0107 | a0107c0041 | a0107c0041t0001 | a0107c0041t0001g0179 | 1 | 249 | 0.0040 | -1584 | c.367 others(9): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5369/16756 | 3674/16239 | 1225/5412 | chr3 | TogoVar | ||
| NBPF20_chr1_145285005_145430603 | 145305893 | CTCCCACG others(1577): Show |
C | exon_loss_variant | HIGH | HG01358.hp2 NA19085.hp1 |
a0005a0006 | a0005c0002a0006c0006 | a0005c0002t0001a0006c0006t0003 | a0005c0002t0001g0003a0006c0006t0003g0002 | 2 | 6 | 0.3333 | -1584 | c.143 others(11): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/143 | 15732/19578 | chr1 | TogoVar | |||||
| ST3GAL4_chr11_126350686_126419638 | 126395959 | CCCGGGCT others(1577): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0106a0001c0001t0001g0215a0001c0001t0008g0214 | 3 | 324 | 0.0093 | -1584 | c.-60 others(18): Show |
ST3GAL4 | ENSG00000110080.20 | transcript | ENST00000444328.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |