| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PXMP4_chr20_33697758_33725310 | 33699054 | TCCCGGCC others(2233): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(30): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0005 | a0001c0001t0004a0001c0001t0017a0001c0001t0026others(7): Show | a0001c0001t0004g0013a0001c0001t0004g0030a0001c0001t0004g0031others(22): Show | 33 | 388 | 0.0851 | -2240 | c.*64 others(11): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 3703 | chr20 | TogoVar | |||||||
| RAB4A_chr1_229266111_229310894 | 229275813 | GCGGGGTT others(2232): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0180a0001c0001t0002g0181a0001c0001t0002g0231others(8): Show | 12 | 400 | 0.0300 | -2239 | c.31+ others(15): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SEMA6B_chr19_4537593_4564684 | 4560574 | GACCACAG others(2230): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp2 HG02280.hp2 others(12): Show |
a0001a0008a0010 | a0001c0001a0008c0022a0010c0024 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0045a0001c0001t0005g0358a0001c0001t0005g0362others(12): Show | 15 | 440 | 0.0341 | -2237 | c.-33 others(11): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 891 | chr19 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1106482 | GAGTGGAC others(2229): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 190 | 0.0053 | -2236 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MLXIP_chr12_122073756_122152344 | 122150109 | TTGAACTC others(2228): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 354 | 0.0028 | -2235 | c.*82 others(12): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 2766 | chr12 | TogoVar | |||||||
| GALM_chr2_38661114_38739765 | 38717695 | CTGGCCTT others(2226): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG04115.hp2 NA18943.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0004g0003others(8): Show | 11 | 328 | 0.0335 | -2233 | c.635 others(18): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC8A3_chr14_70039215_70193951 | 70105882 | AACACATC others(2226): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0247 | 1 | 296 | 0.0034 | -2233 | c.178 others(21): Show |
SLC8A3 | ENSG00000100678.20 | transcript | ENST00000356921.7 | protein_coding | 2/6 | chr14 | TogoVar | |||||||
| MLH3_chr14_75008775_75056467 | 75054235 | TAGCCAAA others(2225): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp2 HG03942.hp2 NA18953.hp2 others(3): Show |
a0007a0010 | a0007c0008a0010c0011 | a0007c0008t0004a0010c0011t0004a0010c0011t0013 | a0007c0008t0004g0007a0007c0008t0004g0034a0010c0011t0004g0217others(1): Show | 6 | 262 | 0.0229 | -2232 | c.-51 others(11): Show |
MLH3 | ENSG00000119684.16 | transcript | ENST00000355774.7 | protein_coding | 2769 | chr14 | TogoVar | |||||||
| ATP8B2_chr1_154320525_154356304 | 154351698 | ATCTTCCT others(2224): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 382 | 0.0026 | -2231 | c.*25 others(11): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 395 | chr1 | TogoVar | |||||||
| IQGAP3_chr1_156520405_156577565 | 156556912 | TAGAAATT others(2224): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(321): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0019a0001c0029others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(279): Show | 324 | 340 | 0.9529 | -2231 | c.112 others(18): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 11/37 | chr1 | TogoVar | |||||||
| TIAM1_chr21_31113418_31349261 | 31295611 | ATGCAACT others(2224): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 212 | 0.0047 | -2231 | c.-18 others(21): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 2/27 | chr21 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237976 | GCCTCCCG others(2223): Show |
G | intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0011 | 1 | 106 | 0.0094 | -2230 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ZNF564_chr19_12520373_12556482 | 12538363 | CGCCTGTA others(2222): Show |
C | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 412 | 0.0024 | -2229 | c.3+1 others(14): Show |
ZNF564 | ENSG00000249709.8 | transcript | ENST00000339282.12 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| MYO9B_chr19_17070777_17218286 | 17117775 | TAAAAATA others(2219): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0036 | a0003c0036t0003 | a0003c0036t0003g0012 | 1 | 262 | 0.0038 | -2226 | c.840 others(19): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1797531 | GCTCTGTC others(2217): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 |
a0001 | a0001c0030a0001c0037 | a0001c0030t0009a0001c0037t0009 | a0001c0030t0009g0105a0001c0037t0009g0201 | 2 | 390 | 0.0051 | -2224 | c.155 others(17): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400181 | AGAGTCGT others(2217): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -2224 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107223059 | CTGCCTCA others(2217): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0100others(8): Show | 11 | 260 | 0.0423 | -2224 | c.703 others(19): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
| ARRDC5_chr19_4885437_4907896 | 4885871 | GAAGGTGG others(2215): Show |
G | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 412 | 0.0024 | -2222 | c.*29 others(11): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4565 | chr19 | TogoVar | |||||||
| RIBC2_chr22_45408693_45437509 | 45419140 | CTTTAAAT others(2215): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 424 | 0.0024 | -2222 | c.556 others(16): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637082 | TGAGATAA others(2214): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 223 | 0.0045 | -2221 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429691 | CGGTCTGG others(2214): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 360 | 0.0028 | -2221 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430049 | TCAGCAGT others(2214): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0277 | 1 | 360 | 0.0028 | -2221 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SAAL1_chr11_18075292_18111082 | 18076345 | ATGGTGGC others(2214): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0001a0002c0008t0001g0040 | 5 | 284 | 0.0176 | -2221 | c.*18 others(11): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 3946 | chr11 | TogoVar | |||||||
| CYP4F11_chr19_15907377_15939529 | 15931723 | AGGAGAGG others(2213): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0007 | a0004c0007t0178 | a0004c0007t0178g0204 | 1 | 386 | 0.0026 | -2220 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637095 | GTGTCCCA others(2212): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0076 | 2 | 223 | 0.0090 | -2219 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1405156 | CGTCCTCC others(2212): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -2219 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1405170 | GTGTATTG others(2212): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -2219 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744757 | CCGGGGGT others(2212): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 366 | 0.0027 | -2219 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2121928 | CGTCATGG others(2212): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164a0001c0001t0002g0028 | 2 | 286 | 0.0070 | -2219 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MID1_chrX_10440556_10625585 | 10560823 | CCCCATCA others(2211): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0055others(13): Show | 16 | 165 | 0.0970 | -2218 | c.660 others(17): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/9 | chrX | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745156 | CCCGGGGT others(2211): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0310 | 1 | 366 | 0.0027 | -2218 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637160 | GTGTATGA others(2210): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 223 | 0.0045 | -2217 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ZDHHC13_chr11_19112168_19181415 | 19159517 | TTGCCACT others(2210): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02723.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259a0002c0002t0001g0260a0002c0002t0001g0261others(1): Show | 4 | 350 | 0.0114 | -2217 | c.110 others(18): Show |
ZDHHC13 | ENSG00000177054.14 | transcript | ENST00000446113.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ARHGAP42_chr11_100682288_100998941 | 100807056 | CAGGCTGG others(2207): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 286 | 0.0035 | -2214 | c.312 others(19): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ZNG1C_chr9_68236983_68305035 | 68289057 | TTAAAAAT others(2205): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02559.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119a0002c0002t0001g0304a0002c0002t0001g0305others(3): Show | 6 | 322 | 0.0186 | -2212 | c.816 others(17): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805548 | CGCAGGCC others(2204): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 319 | 0.0031 | -2211 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3644 | chr2 | TogoVar | |||||||
| SQSTM1_chr5_179815905_179843078 | 179826251 | CCCTCCTG others(2202): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 462 | 0.0022 | -2209 | c.754 others(17): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| EIF3E_chr8_108196216_108253717 | 108223721 | CTGCCACC others(2199): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011 | a0001c0001t0004g0021a0001c0001t0004g0167a0001c0001t0004g0170others(5): Show | 8 | 348 | 0.0230 | -2206 | c.722 others(17): Show |
EIF3E | ENSG00000104408.11 | transcript | ENST00000220849.10 | protein_coding | 7/12 | chr8 | TogoVar | |||||||
| RAB27B_chr18_54823477_54900516 | 54834719 | GAAGAGAT others(2199): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102 | 3 | 334 | 0.0090 | -2206 | c.-20 others(17): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| GABRG1_chr4_46030769_46129054 | 46053973 | CAATAGTC others(2198): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(136): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0001t0002g0152a0001c0002t0002g0001a0001c0002t0002g0042others(132): Show | 139 | 308 | 0.4513 | -2205 | c.916 others(17): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
| GCFC2_chr2_75657705_75715915 | 75681314 | GGAAGCAC others(2198): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 |
a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0053a0004c0003t0002g0069 | 2 | 404 | 0.0050 | -2205 | c.169 others(19): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 11/16 | chr2 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805204 | CCACCTTC others(2196): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 | 1 | 314 | 0.0032 | -2203 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 918 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805204 | CCACCTTC others(2196): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0146 | 1 | 319 | 0.0031 | -2203 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3988 | chr2 | TogoVar | |||||||
| TRNT1_chr3_3121940_3154023 | 3131463 | AAACTGGC others(2196): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013a0001c0001t0006g0132a0001c0001t0006g0211 | 8 | 402 | 0.0199 | -2203 | c.148 others(17): Show |
TRNT1 | ENSG00000072756.18 | transcript | ENST00000251607.11 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
| ATAD3A_chr1_1507162_1539685 | 1508183 | AGCCACAG others(2194): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0005a0006 | a0005c0009a0006c0017 | a0005c0009t0008a0006c0017t0008 | a0005c0009t0008g0045a0005c0009t0008g0046a0005c0009t0008g0047others(1): Show | 5 | 420 | 0.0119 | -2201 | c.-40 others(11): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 3978 | chr1 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132231473 | CAGAGGAG others(2194): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0016a0001c0017 | a0001c0001t0001a0001c0016t0001a0001c0017t0001 | a0001c0001t0001g0072a0001c0016t0001g0054a0001c0016t0001g0147others(2): Show | 5 | 183 | 0.0273 | -2201 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| RNF213_chr17_80255852_80403794 | 80313699 | GGATGGTG others(2193): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0026 | a0026c0100 | a0026c0100t0037 | a0026c0100t0037g0254 | 1 | 292 | 0.0034 | -2200 | c.281 others(18): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| ZFAND3_chr6_37814727_38159624 | 38157424 | TAAAAGGC others(2193): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 318 | 0.0031 | -2200 | c.*50 others(11): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2801 | chr6 | TogoVar | |||||||
| PRSS57_chr19_680546_700452 | 696664 | CTGGGATT others(2189): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068a0002c0003t0001g0069 | 2 | 442 | 0.0045 | -2196 | c.-34 others(11): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 1213 | chr19 | TogoVar | |||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2188): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0053a0001c0001t0003g0145a0001c0001t0004g0064others(11): Show | 14 | 256 | 0.0547 | -2195 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar |