| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HNRNPF_chr10_43380618_43414186 | 43391144 | CTAGCCGG others(1239): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 362 | 0.0028 | -1246 | c.-53 others(17): Show |
HNRNPF | ENSG00000169813.17 | transcript | ENST00000682386.1 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
| SLC9A4_chr2_102468226_102538972 | 102493191 | TTCTGAGC others(1238): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02886.hp2 HG03209.hp2 |
a0001a0002 | a0001c0005a0002c0012 | a0001c0005t0027a0002c0012t0011 | a0001c0005t0027g0058 a0002c0012t0011g0057 a0002c0012t0011g0059 |
3 | 380 | 0.0079 | -1245 | c.721 others(18): Show |
SLC9A4 | ENSG00000180251.5 | transcript | ENST00000295269.5 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1343274 | CCCCTGTT others(1238): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG04115.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0120 a0004c0004t0001g0150 a0004c0004t0001g0151 |
3 | 185 | 0.0162 | -1245 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112864142 | CCAGCGGG others(1237): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0010 | a0002c0010t0010 | a0002c0010t0010g0222 | 1 | 250 | 0.0040 | -1244 | c.299 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| LAPTM4B_chr8_97770788_97858013 | 97849837 | CTGTGTGT others(1237): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0041 a0001c0001t0006g0082 a0001c0001t0006g0118 others(3): Show |
6 | 378 | 0.0159 | -1244 | c.604 others(16): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NLRC4_chr2_32219453_32269886 | 32253978 | AAAAAAAG others(1237): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0381 a0001c0003t0001g0382 |
2 | 392 | 0.0051 | -1244 | c.1+1 others(13): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237976 | GCCTCCCG others(1236): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0030a0001c0003t0032 | a0001c0001t0030g0034 a0001c0003t0032g0071 |
2 | 87 | 0.0230 | -1243 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| FOXN3_chr14_89151177_89422233 | 89360723 | ACCACCAC others(1236): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 226 | 0.0044 | -1243 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
| RPUSD2_chr15_40564299_40579949 | 40578378 | TTTTTTGT others(1236): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 390 | 0.0051 | -1243 | c.*41 others(11): Show |
RPUSD2 | ENSG00000166133.18 | transcript | ENST00000315616.12 | protein_coding | 3430 | chr15 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 991497 | AGACCCCC others(1235): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0031 | 1 | 37 | 0.0270 | -1242 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085103 | GTCCTCGC others(1235): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 48 | 0.0208 | -1242 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1889417 | GAGTGGGG others(1234): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0198 | 1 | 362 | 0.0028 | -1241 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| BATF2_chr11_64982945_65001971 | 64983922 | ATTGTACC others(1234): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0012g0052 |
4 | 402 | 0.0100 | -1241 | c.*39 others(11): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4022 | chr11 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 357468 | GGAGTGGA others(1233): Show |
G | intron_variant | MODIFIER | HG01175.hp1 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0025 a0003c0004t0004g0003 |
2 | 228 | 0.0088 | -1240 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565690 | ACTCTGTC others(1233): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 308 | 0.0032 | -1240 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168572119 | GCATCCCC others(1233): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01081.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(5): Show | a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0136 others(20): Show |
23 | 177 | 0.1299 | -1240 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| TMEM269_chr1_42779991_42805827 | 42804588 | CAACCTTC others(1232): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0107 a0001c0001t0006g0027 |
2 | 408 | 0.0049 | -1239 | c.*63 others(11): Show |
TMEM269 | ENSG00000274386.6 | transcript | ENST00000637012.2 | protein_coding | 3762 | chr1 | TogoVar | |||||||
| ATP9B_chr18_79064394_79383283 | 79297746 | ACTTAGGA others(1231): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(45): Show |
a0001a0002a0006others(2): Show | a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0011others(10): Show | a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 others(45): Show |
48 | 296 | 0.1622 | -1238 | c.141 others(19): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | chr18 | TogoVar | |||||||
| DCX_chrX_111288779_111417192 | 111314868 | CAAAATGT others(1231): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG02965.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032a0001c0001t0041others(1): Show | a0001c0001t0014g0042 a0001c0001t0032g0002 a0001c0001t0041g0058 others(1): Show |
4 | 181 | 0.0221 | -1238 | c.947 others(17): Show |
DCX | ENSG00000077279.21 | transcript | ENST00000636035.2 | protein_coding | 5/6 | chrX | TogoVar | |||||||
| MTA1_chr14_105414827_105475729 | 105428173 | CAGCCCCC others(1231): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0018 | 1 | 302 | 0.0033 | -1238 | c.28+ others(15): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| SRGAP2B_chr1_144882288_145100328 | 144882440 | GCAAAAAG others(1231): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 54 | 0.0185 | -1238 | c.*84 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4847 | chr1 | TogoVar | |||||||
| ITPK1_chr14_92931914_93120925 | 92977548 | GGGGGAGG others(1230): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0089 | a0001c0001t0080g0021 a0001c0001t0089g0028 |
2 | 242 | 0.0083 | -1237 | c.364 others(19): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
| RAB7A_chr3_128721183_128819798 | 128746721 | GGGTTTCA others(1230): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 others(1): Show |
4 | 312 | 0.0128 | -1237 | c.-9+ others(17): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DGCR2_chr22_19031286_19127412 | 19094390 | ACTCCAGT others(1229): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 342 | 0.0029 | -1236 | c.80- others(15): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
| RGS7BP_chr5_64501015_64617319 | 64550460 | TACCCCAT others(1229): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 278 | 0.0036 | -1236 | c.333 others(19): Show |
RGS7BP | ENSG00000186479.5 | transcript | ENST00000334025.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 260846 | CCAGAGCA others(1229): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 a0002c0003t0003g0103 |
2 | 165 | 0.0121 | -1236 | c.*44 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3765 | chr5 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(1228): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02280.hp1 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0200 a0002c0002t0001g0020 a0002c0002t0002g0188 |
3 | 139 | 0.0216 | -1235 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637297 | TCATGAGG others(1227): Show |
T | intron_variant | MODIFIER | NA19003.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0074 a0002c0002t0002g0182 |
2 | 215 | 0.0093 | -1234 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TAF2_chr8_119725774_119837841 | 119772873 | GTTGCAGT others(1227): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show |
4 | 320 | 0.0125 | -1234 | c.236 others(19): Show |
TAF2 | ENSG00000064313.13 | transcript | ENST00000378164.7 | protein_coding | 18/25 | chr8 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142316097 | AGCGCCTC others(1227): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(8): Show |
a0007a0009a0014 | a0007c0007a0009c0019a0014c0018 | a0007c0007t0001a0007c0007t0002a0007c0007t0004others(2): Show | a0007c0007t0001g0012 a0007c0007t0002g0003 a0007c0007t0002g0033 others(8): Show |
11 | 236 | 0.0466 | -1234 | c.984 others(17): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
| LRRC9_chr14_59915144_60071817 | 60039897 | ATTTAGTG others(1226): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0161 | 1 | 320 | 0.0031 | -1233 | c.399 others(19): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 29/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| TCERG1L_chr10_131087391_131316721 | 131190444 | CCAAAAAA others(1226): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0082 others(30): Show |
33 | 322 | 0.1025 | -1233 | c.857 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1225): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG02895.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0006a0002c0002t0005others(3): Show | a0001c0001t0003g0159 a0001c0001t0006g0230 a0002c0002t0005g0160 others(5): Show |
8 | 193 | 0.0415 | -1232 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1990944 | CGAGCACC others(1225): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0085 a0002c0002t0001g0003 a0002c0002t0001g0004 others(54): Show |
57 | 262 | 0.2176 | -1232 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
| PHYHD1_chr9_128915982_128947038 | 128938646 | CTCCTGAC others(1225): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(91): Show |
a0001a0003a0005 | a0001c0002a0003c0004a0005c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0021 others(64): Show |
94 | 402 | 0.2338 | -1232 | c.457 others(15): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PHYHD1_chr9_128915982_128947038 | 128938674 | CAGCCTCC others(1225): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0250 a0001c0002t0004g0258 |
2 | 402 | 0.0050 | -1232 | c.457 others(15): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
| SLC22A1_chr6_160116815_160163718 | 160125719 | GAGGATGT others(1225): Show |
G | intron_variant | MODIFIER | NA18949.hp1 NA18953.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0097 a0001c0002t0001g0105 others(2): Show |
6 | 411 | 0.0146 | -1232 | c.411 others(17): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
| AZI2_chr3_28316047_28353824 | 28350593 | CCCTGCTA others(1224): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0074 |
6 | 307 | 0.0195 | -1231 | c.-32 others(11): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1770 | chr3 | TogoVar | |||||||
| CNN2_chr19_1021608_1044065 | 1033679 | TGGGTGGG others(1224): Show |
T | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0052 | 1 | 388 | 0.0026 | -1231 | c.390 others(16): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| CTDSPL2_chr15_44422629_44534038 | 44464958 | GGCCTCCC others(1224): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 232 | 0.0043 | -1231 | c.186 others(17): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1990992 | TGGCCTCA others(1224): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 262 | 0.0038 | -1231 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79473939 | ATTGTAAA others(1224): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0052 | a0006c0052t0037 | a0006c0052t0037g0180 | 1 | 320 | 0.0031 | -1231 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79473975 | TGTCGACG others(1224): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0206 | 1 | 320 | 0.0031 | -1231 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| OSBPL1A_chr18_24157052_24402824 | 24323398 | CAAAAATT others(1224): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0055 others(103): Show |
106 | 204 | 0.5196 | -1231 | c.626 others(17): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 7/27 | chr18 | TogoVar | |||||||
| ZCWPW2_chr3_28343721_28531358 | 28350593 | CCCTGCTA others(1224): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0024a0002c0003t0014 | a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 others(3): Show |
6 | 208 | 0.0288 | -1231 | c.-13 others(19): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393499 | AGGTGGTC others(1224): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0157 | a0002c0003t0157g0080 | 1 | 328 | 0.0030 | -1231 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943234 | CTCTCACC others(1223): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG04204.hp2 others(1): Show |
a0002 | a0002c0004a0002c0009a0002c0024 | a0002c0004t0021a0002c0009t0031a0002c0009t0032others(1): Show | a0002c0004t0021g0050 a0002c0009t0031g0009 a0002c0009t0032g0026 others(1): Show |
4 | 83 | 0.0482 | -1230 | c.*62 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2618 | chr20 | TogoVar | |||||||
| CNN2_chr19_1021608_1044065 | 1033655 | AGTGTCTG others(1223): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00735.hp1 others(38): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0003a0001c0003t0031a0001c0004t0003others(6): Show | a0001c0003t0003g0013 a0001c0003t0031g0013 a0001c0004t0003g0003 others(17): Show |
41 | 242 | 0.1694 | -1230 | c.390 others(16): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| CREB1_chr2_207524962_207610988 | 207609758 | TAGAAAAC others(1223): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(274): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(263): Show |
277 | 306 | 0.9052 | -1230 | c.*12 others(13): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 3771 | chr2 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 287581 | TCTCTCCA others(1223): Show |
T | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 130 | 0.0077 | -1230 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar |