| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SYNE2_chr14_63848004_64231433 | 63942423 | ATTCTTCT others(1345): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0009 | a0009c0010 | a0009c0010t0004 | a0009c0010t0004g0079 | 1 | 150 | 0.0067 | -1352 | c.408 others(16): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ZFAND3_chr6_37814727_38159624 | 37883448 | CAGACTAC others(1345): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01891.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(41): Show | 44 | 318 | 0.1384 | -1352 | c.72- others(17): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMAD1_chr4_145476853_145564176 | 145526563 | AGGACCCA others(1344): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020a0001c0001t0005g0021a0001c0001t0005g0043others(2): Show | 5 | 308 | 0.0162 | -1351 | c.400 others(19): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392933 | GGGCAGGT others(1344): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0041 | a0001c0001t0017g0171a0001c0001t0041g0175 | 2 | 346 | 0.0058 | -1351 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765355 | CTTGGGGA others(1343): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG02451.hp2 others(2): Show |
a0002a0004a0018 | a0002c0002a0004c0005a0018c0025 | a0002c0002t0002a0004c0005t0002a0018c0025t0016 | a0002c0002t0002g0078a0002c0002t0002g0141a0002c0002t0002g0155others(2): Show | 5 | 412 | 0.0121 | -1350 | 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 | 241765806 | GTGGGGAG others(1343): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0148 | 1 | 412 | 0.0024 | -1350 | 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 | 241766155 | GTTGGGGA others(1343): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082a0001c0001t0006g0083a0001c0001t0006g0172 | 3 | 412 | 0.0073 | -1350 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 991389 | AGACCCCC others(1343): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -1350 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOCK2_chr5_169632275_170088382 | 169825974 | GTTTTTTG others(1343): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0122 | 1 | 184 | 0.0054 | -1350 | c.270 others(21): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 26/51 | chr5 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89799877 | TCAGCTAC others(1343): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 334 | 0.0030 | -1350 | c.793 others(16): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 8/42 | chr16 | TogoVar | ||||||
| INSIG2_chr2_118083471_118115997 | 118093038 | AGGAGAGT others(1343): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0242 | 8 | 440 | 0.0182 | -1350 | c.-13 others(19): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(1343): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 67 | 0.0149 | -1350 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560674 | GCATTCTT others(1343): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 180 | 0.0056 | -1350 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| KIF19_chr17_74321226_74360820 | 74338330 | CTGCAAGC others(1342): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0018 | a0018c0055 | a0018c0055t0002 | a0018c0055t0002g0224 | 1 | 412 | 0.0024 | -1349 | c.121 others(17): Show |
KIF19 | ENSG00000196169.15 | transcript | ENST00000389916.5 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DHRS4L2_chr14_23983929_24011403 | 24010055 | GGTGGAGT others(1341): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 32 | 0.0313 | -1348 | c.*41 others(11): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3653 | chr14 | TogoVar | ||||||
| RPL26_chr17_8372516_8388193 | 8374178 | ATAGAAAA others(1341): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -1348 | c.*20 others(11): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 3337 | chr17 | TogoVar | ||||||
| GGTLC2_chr22_22639614_22652898 | 22640753 | TTTTTTTT others(1340): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01346.hp1 others(14): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0003c0031others(1): Show | a0001c0001t0016a0003c0005t0004a0003c0031t0004others(1): Show | a0001c0001t0016g0318a0003c0005t0004g0005a0003c0005t0004g0006others(8): Show | 17 | 412 | 0.0413 | -1347 | c.-39 others(11): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 3860 | chr22 | TogoVar | ||||||
| LRBA_chr4_150259435_151020284 | 150552261 | AGTCAAGT others(1339): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0171 | 1 | 180 | 0.0056 | -1346 | c.633 others(21): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 40/56 | chr4 | TogoVar | ||||||
| NLRP7_chr19_54918515_54952530 | 54942218 | TGCACTCC others(1338): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0017 | 1 | 419 | 0.0024 | -1345 | c.-39 others(16): Show |
NLRP7 | ENSG00000167634.12 | transcript | ENST00000592784.6 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| AGPAT4_chr6_161124967_161279061 | 161145006 | ATTTTATA others(1337): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0162 | 1 | 264 | 0.0038 | -1344 | c.843 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91735742 | AAGAGAAG others(1337): Show |
A | upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 271 | 0.0037 | -1344 | c.-51 others(11): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 3657 | chr14 | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1296798 | CCTGGCGG others(1337): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02622.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0002c0006others(4): Show | a0001c0002t0009a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0002t0009g0011a0002c0003t0001g0007a0002c0003t0001g0008others(7): Show | 10 | 159 | 0.0629 | -1344 | c.810 others(17): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DISP1_chr1_222810039_223010995 | 222836184 | TATTTTAC others(1337): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0174 | 1 | 348 | 0.0029 | -1344 | c.-15 others(21): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1990832 | CGAGCACC others(1337): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0004 | a0001c0003t0001g0074a0001c0007t0004g0078 | 2 | 264 | 0.0076 | -1344 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MTMR9_chr8_11279816_11333146 | 11290425 | GTGGTGCC others(1337): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212a0001c0001t0002g0263 | 2 | 348 | 0.0058 | -1344 | c.183 others(17): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 109142356 | ACCAGTCT others(1337): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0038 | 1 | 152 | 0.0066 | -1344 | c.516 others(18): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 32/34 | chr13 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42151240 | TCCTGGCT others(1337): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 306 | 0.0033 | -1344 | c.-89 others(17): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| SORL1_chr11_121447314_121638763 | 121480607 | CAGCTCCT others(1337): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0211 | 1 | 272 | 0.0037 | -1344 | c.528 others(17): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FKBP9_chr7_32952440_33011928 | 33007208 | CCAGGGCC others(1336): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0059 | 1 | 430 | 0.0023 | -1343 | c.*18 others(11): Show |
FKBP9 | ENSG00000122642.11 | transcript | ENST00000242209.9 | protein_coding | 281 | chr7 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393051 | CAGGTGGT others(1336): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0085 | a0001c0001t0001g0296a0001c0001t0085g0032 | 2 | 346 | 0.0058 | -1343 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393355 | CAGGTGGT others(1336): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(28): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0237a0001c0001t0001g0297a0001c0001t0002g0115others(28): Show | 31 | 346 | 0.0896 | -1343 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54423268 | GCAAAAGA others(1335): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp2 others(4): Show |
a0003a0005a0016others(2): Show | a0003c0003a0005c0005a0016c0012others(2): Show | a0003c0003t0001a0003c0003t0004a0005c0005t0004others(3): Show | a0003c0003t0001g0017a0003c0003t0001g0084a0003c0003t0004g0088others(4): Show | 7 | 102 | 0.0686 | -1342 | c.158 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54423268 | GCAAAAGA others(1335): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0006a0003c0003a0003c0005others(3): Show | a0002c0006t0005a0003c0003t0001a0003c0003t0002others(4): Show | a0002c0006t0005g0074a0003c0003t0001g0017a0003c0003t0002g0080others(4): Show | 7 | 94 | 0.0745 | -1342 | c.158 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
| YWHAE_chr17_1339275_1405222 | 1383078 | TGGTGGCT others(1334): Show |
T | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 373 | 0.0027 | -1341 | c.64+ others(17): Show |
YWHAE | ENSG00000108953.17 | transcript | ENST00000264335.13 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| MAP2K6_chr17_69409697_69558865 | 69421790 | GCCTCGGC others(1333): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 260 | 0.0039 | -1340 | c.16+ others(15): Show |
MAP2K6 | ENSG00000108984.16 | transcript | ENST00000590474.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RASGRP3_chr2_33471649_33569731 | 33546739 | TACATATA others(1333): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0215 | 1 | 370 | 0.0027 | -1340 | c.139 others(19): Show |
RASGRP3 | ENSG00000152689.18 | transcript | ENST00000403687.8 | protein_coding | 13/17 | chr2 | TogoVar | ||||||
| AGPAT4_chr6_161124967_161279061 | 161145011 | ATATGCTG others(1332): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0113a0001c0001t0026g0220 | 2 | 264 | 0.0076 | -1339 | c.843 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| SEMA6B_chr19_4537593_4564684 | 4561998 | CGGCCTCC others(1332): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 440 | 0.0023 | -1339 | c.-38 others(11): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 2315 | chr19 | TogoVar | ||||||
| TRIM52_chr5_181250147_181266143 | 181253074 | TGCCCAGG others(1332): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0002g0031a0001c0001t0002g0052a0001c0001t0006g0010others(25): Show | 114 | 410 | 0.2781 | -1339 | c.*23 others(11): Show |
TRIM52 | ENSG00000183718.6 | transcript | ENST00000688015.1 | protein_coding | 2072 | chr5 | TogoVar | ||||||
| NAA60_chr16_3438680_3491953 | 3445281 | TTTTTTTT others(1331): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 376 | 0.0027 | -1338 | c.-77 others(17): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TXN2_chr22_36462046_36486640 | 36471705 | CTGCCTGT others(1331): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 340 | 0.0029 | -1338 | c.387 others(17): Show |
TXN2 | ENSG00000100348.10 | transcript | ENST00000216185.7 | protein_coding | 3/3 | chr22 | TogoVar | ||||||
| ZNF597_chr16_3427414_3448504 | 3445281 | TTTTTTTT others(1331): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 2 | 410 | 0.0049 | -1338 | c.-33 others(11): Show |
ZNF597 | ENSG00000167981.7 | transcript | ENST00000301744.7 | protein_coding | 1778 | chr16 | TogoVar | ||||||
| AGPAT4_chr6_161124967_161279061 | 161145013 | ATGCTGCC others(1330): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0057a0001c0001t0058 | a0001c0001t0051g0024a0001c0001t0057g0171a0001c0001t0058g0032 | 3 | 264 | 0.0114 | -1337 | c.843 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
| CATSPERE_chr1_244456273_244645504 | 244516614 | TGAGTTCA others(1330): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0003g0189a0002c0004t0001g0082others(1): Show | 4 | 206 | 0.0194 | -1337 | c.430 others(16): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79920417 | TGGGGAGA others(1330): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0137 | 1 | 352 | 0.0028 | -1337 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| VCAN_chr5_83466744_83587302 | 83566057 | GGGTTAAG others(1330): Show |
G | intron_variant | MODIFIER | HG01123.hp2 | a0006 | a0006c0021 | a0006c0021t0004 | a0006c0021t0004g0091 | 1 | 350 | 0.0029 | -1337 | c.973 others(19): Show |
VCAN | ENSG00000038427.16 | transcript | ENST00000265077.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129855119 | GCTGCCCT others(1329): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0007a0001c0013t0017 | a0001c0001t0001g0013a0001c0001t0007g0029a0001c0013t0017g0028 | 3 | 94 | 0.0319 | -1336 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| ZNF506_chr19_19787711_19826750 | 19816630 | TTACAGGC others(1328): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0347 | 1 | 418 | 0.0024 | -1335 | c.3+3 others(13): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18597101 | TAAAAGGA others(1326): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(183): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(116): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0030others(183): Show | 186 | 228 | 0.8158 | -1333 | c.248 others(19): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292582 | TCCCGCGG others(1326): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0385 | 1 | 404 | 0.0025 | -1333 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |