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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(1197): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 323 | 0.0031 | 1204 | c.-16 others(1215): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79886450 | C | CGGGGACA others(1197): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 312 | 0.0032 | 1204 | c.625 others(1223): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1197): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 |
a0010a0049 | a0010c0008a0049c0067 | a0010c0008t0001a0049c0067t0001 | a0010c0008t0001g0066a0049c0067t0001g0065 | 2 | 388 | 0.0052 | 1204 | c.-38 others(1223): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(1197): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 290 | 0.0035 | 1204 | c.129 others(1221): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1197): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18612.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0090a0001c0001t0004g0082others(2): Show | 5 | 318 | 0.0157 | 1204 | c.-49 others(1215): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1197): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 140 | 0.0071 | 1204 | c.133 others(1223): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1197): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 140 | 0.0071 | 1204 | c.133 others(1223): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1197): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0056 | 1 | 140 | 0.0071 | 1204 | c.133 others(1223): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1197): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 360 | 0.0028 | 1204 | c.456 others(1219): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1197): Show |
intron_variant | MODIFIER | HG01978.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0015a0001c0001t0015g0043 | 2 | 68 | 0.0294 | 1204 | c.61+ others(1223): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1197): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 68 | 0.0147 | 1204 | c.61+ others(1223): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(1197): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0284 | 1 | 295 | 0.0034 | 1204 | c.126 others(1223): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1197): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0073 | a0001c0073t0038 | a0001c0073t0038g0079 | 1 | 204 | 0.0049 | 1204 | c.248 others(1223): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1197): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0198 | 1 | 204 | 0.0049 | 1204 | c.248 others(1223): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1197): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0023 | a0001c0023t0008 | a0001c0023t0008g0034 | 1 | 204 | 0.0049 | 1204 | c.248 others(1223): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1197): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0209 | 2 | 420 | 0.0048 | 1204 | c.107 others(1221): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1197): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19009.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0043a0001c0001t0005g0238a0001c0001t0009g0262 | 3 | 324 | 0.0093 | 1204 | c.857 others(1221): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1197): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG02572.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0076a0001c0001t0001g0088others(5): Show | 8 | 324 | 0.0247 | 1204 | c.857 others(1221): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1197): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 324 | 0.0031 | 1204 | c.857 others(1221): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TIMM17A_chr1_201950503_201975664 | 201951089 | G | GTGACACA others(1197): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 468 | 0.0021 | 1204 | c.-44 others(1215): Show |
TIMM17A | ENSG00000134375.11 | transcript | ENST00000367287.5 | protein_coding | 4413 | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(1197): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0029 | 1 | 314 | 0.0032 | 1204 | c.189 others(1221): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(1197): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 94 | 0.0106 | 1204 | c.79+ others(1221): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTGCCT others(1197): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 114 | 0.0088 | 1204 | c.215 others(1221): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TOLLIP_chr11_1269371_1314632 | 1287633 | G | GCCTCCCC others(1197): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 348 | 0.0029 | 1204 | c.519 others(1219): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1197): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 388 | 0.0026 | 1204 | c.-23 others(1221): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870359 | A | ACACACCA others(1197): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 338 | 0.0030 | 1204 | c.*35 others(1223): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871113 | A | ACCACACA others(1197): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 338 | 0.0030 | 1204 | c.*35 others(1223): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1197): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 202 | 0.0099 | 1204 | c.*53 others(1215): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1197): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 228 | 0.0044 | 1204 | c.127 others(1221): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1617177 | G | GCATTCTG others(1198): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0065a0001c0001t0030g0034 | 2 | 106 | 0.0189 | 1205 | c.100 others(1226): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(1198): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 184 | 0.0054 | 1205 | c.784 others(1220): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAGAAAGA others(1198): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 258 | 0.0039 | 1205 | c.403 others(1220): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AAATATAT others(1198): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0085 | 4 | 208 | 0.0192 | 1205 | c.192 others(1224): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1198): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0121 | 1 | 208 | 0.0048 | 1205 | c.192 others(1224): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1198): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0028 | 1 | 148 | 0.0068 | 1205 | c.183 others(1224): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1198): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0161 | a0002c0161t0003 | a0002c0161t0003g0246 | 1 | 252 | 0.0040 | 1205 | c.118 others(1224): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1198): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0018 | a0018c0132 | a0018c0132t0001 | a0018c0132t0001g0219 | 1 | 316 | 0.0032 | 1205 | c.*49 others(1216): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1198): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0008 | a0008c0138 | a0008c0138t0001 | a0008c0138t0001g0218 | 1 | 316 | 0.0032 | 1205 | c.*49 others(1216): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(1198): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0205 | 1 | 289 | 0.0035 | 1205 | c.269 others(1224): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FBXW10B_chr17_15578886_15624704 | 15607864 | T | TAGAAAAT others(1198): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01952.hp1 HG01993.hp1 others(4): Show |
a0011a0014 | a0011c0026a0014c0011 | a0011c0026t0019a0011c0026t0089a0014c0011t0023others(3): Show | a0011c0026t0019g0326a0011c0026t0089g0418a0014c0011t0023g0273others(4): Show | 7 | 452 | 0.0155 | 1205 | c.112 others(1222): Show |
FBXW10B | ENSG00000241322.11 | transcript | ENST00000395906.8 | protein_coding | 5/11 | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1198): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 402 | 0.0025 | 1205 | c.292 others(1224): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1198): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19011.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013 | 2 | 388 | 0.0052 | 1205 | c.-38 others(1224): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1198): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0040 | a0040c0075 | a0040c0075t0001 | a0040c0075t0001g0097 | 1 | 388 | 0.0026 | 1205 | c.-38 others(1224): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1198): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0102 | 1 | 334 | 0.0030 | 1205 | c.-28 others(1224): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1198): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0171 | 1 | 384 | 0.0026 | 1205 | c.160 others(1222): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(1198): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0012 | 1 | 402 | 0.0025 | 1205 | c.*57 others(1216): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1198): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 304 | 0.0033 | 1205 | c.347 others(1220): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1198): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0059 | a0001c0008t0059g0029 | 1 | 204 | 0.0049 | 1205 | c.248 others(1224): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1198): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0017 | a0003c0017t0086 | a0003c0017t0086g0096 | 1 | 204 | 0.0049 | 1205 | c.248 others(1224): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1198): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0051 | a0001c0051t0046 | a0001c0051t0046g0060 | 1 | 204 | 0.0049 | 1205 | c.248 others(1224): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar |