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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1198): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
a0001a0004a0008others(1): Show | a0001c0015a0004c0080a0008c0044others(1): Show | a0001c0015t0004a0004c0080t0054a0008c0044t0023others(1): Show | a0001c0015t0004g0150a0004c0080t0054g0080a0008c0044t0023g0068others(1): Show | 4 | 204 | 0.0196 | 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 | HG00558.hp2 NA18948.hp2 NA18990.hp2 |
a0006a0009 | a0006c0056a0006c0097a0009c0113 | a0006c0056t0002a0006c0097t0070a0009c0113t0064 | a0006c0056t0002g0162a0006c0097t0070g0048a0009c0113t0064g0023 | 3 | 204 | 0.0147 | 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 | HG02258.hp1 | a0004 | a0004c0027 | a0004c0027t0011 | a0004c0027t0011g0035 | 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.hp1 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(102): Show | a0001c0001t0001g0013a0001c0001t0001g0063a0001c0001t0001g0192others(110): Show | 113 | 204 | 0.5539 | 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 | HG00323.hp1 HG02738.hp2 HG04204.hp1 |
a0012a0013 | a0012c0078a0013c0099a0013c0100 | a0012c0078t0005a0013c0099t0013a0013c0100t0069 | a0012c0078t0005g0006a0013c0099t0013g0133a0013c0100t0069g0090 | 3 | 204 | 0.0147 | 1205 | c.248 others(1224): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1198): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 350 | 0.0029 | 1205 | c.440 others(1222): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1198): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 350 | 0.0029 | 1205 | c.440 others(1222): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1198): Show |
intron_variant | MODIFIER | HG00741.hp2 HG04228.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0042a0001c0005t0002g0258 | 2 | 350 | 0.0057 | 1205 | c.440 others(1222): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1198): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 258 | 0.0039 | 1205 | c.113 others(1224): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CACACAAA others(1198): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 324 | 0.0031 | 1205 | c.857 others(1222): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CACACAAA others(1198): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0149 | 1 | 324 | 0.0031 | 1205 | c.857 others(1222): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340261 | A | AATCATAA others(1198): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 416 | 0.0024 | 1205 | c.239 others(1220): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60349861 | G | GGGAGGCA others(1199): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 334 | 0.0030 | 1206 | c.838 others(1221): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1199): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0120 | 1 | 210 | 0.0048 | 1206 | c.273 others(1223): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176242137 | C | CTGCCATC others(1199): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 410 | 0.0024 | 1206 | c.197 others(1225): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1199): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0010 | a0001c0001t0002g0076a0001c0005t0010g0227 | 2 | 326 | 0.0061 | 1206 | c.-13 others(1225): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGTGGGT others(1199): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 338 | 0.0030 | 1206 | c.300 others(1223): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(1199): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0231 | a0001c0002t0015g0045a0001c0002t0231g0291 | 3 | 406 | 0.0074 | 1206 | c.122 others(1223): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(1199): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0230 | a0001c0002t0230g0290 | 1 | 406 | 0.0025 | 1206 | c.122 others(1223): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939822 | G | GAAAAGAA others(1199): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 258 | 0.0039 | 1206 | c.403 others(1221): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1199): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 258 | 0.0039 | 1206 | c.403 others(1221): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1199): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 258 | 0.0039 | 1206 | c.403 others(1221): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50412001 | T | TTTGCATT others(1199): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 248 | 0.0040 | 1206 | c.943 others(1223): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 4/27 | chrX | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1199): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02080.hp1 HG02717.hp2 others(10): Show |
a0001a0004a0010others(5): Show | a0001c0016a0001c0032a0004c0008others(7): Show | a0001c0016t0001a0001c0032t0006a0004c0008t0003others(7): Show | a0001c0016t0001g0186a0001c0016t0001g0187a0001c0032t0006g0192others(10): Show | 13 | 316 | 0.0411 | 1206 | c.*49 others(1217): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 399997 | T | TCCACCAC others(1199): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 256 | 0.0039 | 1206 | c.323 others(1223): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATACATA others(1199): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0177 | 1 | 292 | 0.0034 | 1206 | c.228 others(1223): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATACATA others(1199): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0284 | 1 | 369 | 0.0027 | 1206 | c.-49 others(1217): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896582 | G | GGTGTTGG others(1199): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 37 | 0.0270 | 1206 | c.161 others(1221): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896582 | G | GGTGTTGG others(1199): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 37 | 0.0270 | 1206 | c.161 others(1221): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896596 | G | GGTGTTGG others(1199): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 37 | 0.0270 | 1206 | c.161 others(1221): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896596 | G | GGTGTTGG others(1199): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 37 | 0.0270 | 1206 | c.161 others(1221): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574360 | A | AGGAGGCT others(1199): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0121a0001c0001t0002g0015a0001c0001t0002g0285others(7): Show | 11 | 418 | 0.0263 | 1206 | c.119 others(1225): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1199): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 418 | 0.0024 | 1206 | c.119 others(1225): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1199): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0303a0001c0001t0009g0325 | 2 | 418 | 0.0048 | 1206 | c.119 others(1225): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1199): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0337 | 1 | 418 | 0.0024 | 1206 | c.119 others(1225): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946641 | T | TATAAATA others(1199): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 344 | 0.0029 | 1206 | c.617 others(1223): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(1199): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0090 | 1 | 366 | 0.0027 | 1206 | c.666 others(1223): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1199): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0230 | 1 | 276 | 0.0036 | 1206 | c.*65 others(1217): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1199): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 276 | 0.0036 | 1206 | c.*65 others(1217): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1199): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02717.hp2 others(10): Show |
a0002a0007a0008others(3): Show | a0002c0003a0007c0009a0008c0012others(3): Show | a0002c0003t0001a0002c0003t0002a0007c0009t0007others(5): Show | a0002c0003t0001g0019a0002c0003t0001g0070a0002c0003t0001g0071others(9): Show | 13 | 388 | 0.0335 | 1206 | c.-38 others(1225): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(1199): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 330 | 0.0030 | 1206 | c.430 others(1221): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68207058 | C | CGGTGAAA others(1199): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0021a0001c0001t0002g0027others(20): Show | 29 | 328 | 0.0884 | 1206 | c.-77 others(1223): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68207058 | C | CGGTGAAA others(1199): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 328 | 0.0031 | 1206 | c.-77 others(1223): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68208124 | A | ATCACGCC others(1199): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 328 | 0.0031 | 1206 | c.-77 others(1223): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1199): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 | 1 | 296 | 0.0034 | 1206 | c.368 others(1223): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877243 | G | GGGAGGTT others(1199): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0075a0010c0018t0001g0076 | 2 | 274 | 0.0073 | 1206 | c.224 others(1225): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877445 | G | GGTTATGG others(1199): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 274 | 0.0037 | 1206 | c.224 others(1225): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544524 | G | GCACGGTG others(1199): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 286 | 0.0035 | 1206 | c.153 others(1225): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1199): Show |
intron_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0197a0002c0006t0002g0198 | 2 | 208 | 0.0096 | 1206 | c.279 others(1221): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1199): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0028 | a0028c0071 | a0028c0071t0012 | a0028c0071t0012g0093 | 1 | 134 | 0.0075 | 1206 | c.575 others(1227): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar |