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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(972): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 326 | 0.0031 | 979 | c.327 others(996): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539364 | G | GGACTTAA others(972): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0102 | 1 | 104 | 0.0096 | 979 | c.139 others(1000): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(972): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0235a0001c0004t0001g0237 | 2 | 370 | 0.0054 | 979 | c.891 others(994): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0180a0002c0002t0013g0179 | 2 | 320 | 0.0063 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp1 others(23): Show |
a0002a0005 | a0002c0002a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0002c0002t0001g0027a0002c0002t0001g0108a0002c0002t0001g0110others(23): Show | 26 | 320 | 0.0813 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 320 | 0.0031 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0030 | 1 | 320 | 0.0031 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 320 | 0.0031 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(972): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0302a0001c0001t0018g0256 | 2 | 320 | 0.0063 | 979 | c.380 others(996): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(972): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 358 | 0.0028 | 979 | c.236 others(998): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(972): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01515.hp1 HG02004.hp1 others(2): Show |
a0001a0013 | a0001c0001a0013c0020 | a0001c0001t0003a0013c0020t0003 | a0001c0001t0003g0002a0001c0001t0003g0055a0001c0001t0003g0080others(2): Show | 5 | 358 | 0.0140 | 979 | c.236 others(998): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634674 | C | CCCTTCCT others(972): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 250 | 0.0040 | 979 | c.105 others(996): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137669339 | C | CTCACCGA others(972): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0150 | 1 | 170 | 0.0059 | 979 | c.22- others(996): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(972): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0392 | 1 | 418 | 0.0024 | 979 | c.119 others(998): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGGA others(972): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0303 | 1 | 308 | 0.0033 | 979 | c.157 others(996): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680628 | T | TCCCTCTC others(972): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 76 | 0.0132 | 979 | c.150 others(998): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294683 | T | TCTATCCA others(972): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 388 | 0.0026 | 979 | c.105 others(996): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323494 | A | ATATGGAA others(972): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 323 | 0.0031 | 979 | c.-15 others(990): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1475 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323498 | A | AATATATA others(972): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 323 | 0.0031 | 979 | c.-15 others(990): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1471 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323498 | A | AATATATA others(972): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 323 | 0.0031 | 979 | c.-15 others(990): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1471 | chr21 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149942 | C | CCTCTCCT others(972): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0240 | 1 | 308 | 0.0033 | 979 | c.*71 others(990): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4351 | chr1 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237121 | G | GGGAGAGG others(972): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 979 | c.-41 others(990): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3973 | chr11 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478087 | A | AGGGGGAG others(972): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0023 | 1 | 163 | 0.0061 | 979 | c.525 others(996): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(972): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0015 | 1 | 318 | 0.0031 | 979 | c.-49 others(990): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(972): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0101 | 1 | 250 | 0.0040 | 979 | c.225 others(996): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(972): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 208 | 0.0048 | 979 | c.279 others(994): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(972): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02155.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126a0001c0002t0001g0148a0001c0002t0001g0149others(2): Show | 5 | 208 | 0.0240 | 979 | c.279 others(994): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 82089 | G | GCCCCTTC others(972): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0337 | 1 | 350 | 0.0029 | 979 | c.*46 others(990): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3296 | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949166 | G | GGCCTCCT others(972): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 242 | 0.0041 | 979 | c.360 others(998): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATTCTCTC others(972): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0036 | 1 | 68 | 0.0147 | 979 | c.62- others(998): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353988 | T | TGTCTATG others(972): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0051 | 1 | 346 | 0.0029 | 979 | c.176 others(998): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(972): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02886.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0033a0003c0004t0001g0192a0003c0004t0001g0222 | 3 | 308 | 0.0097 | 979 | c.371 others(996): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(972): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0032 | 1 | 188 | 0.0053 | 979 | c.147 others(996): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(972): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 312 | 0.0032 | 979 | c.306 others(998): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492359 | G | GCCCTCCC others(972): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0008 | a0001c0008t0057 | a0001c0008t0057g0113 | 1 | 295 | 0.0034 | 979 | c.126 others(998): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(972): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 67 | 0.0149 | 979 | c.159 others(996): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(972): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0166 | 1 | 322 | 0.0031 | 979 | c.597 others(996): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859170 | T | TTTGATAG others(972): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0002g0098a0001c0001t0003g0026others(4): Show | 7 | 112 | 0.0625 | 979 | c.638 others(998): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46860199 | C | CATAGAGG others(972): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 112 | 0.0089 | 979 | c.638 others(998): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(972): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 392 | 0.0026 | 979 | c.228 others(998): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(972): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 392 | 0.0026 | 979 | c.228 others(998): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(972): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 | 1 | 94 | 0.0106 | 979 | c.79+ others(996): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(972): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 94 | 0.0106 | 979 | c.79+ others(996): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(972): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 94 | 0.0106 | 979 | c.79+ others(996): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(972): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0076 | 1 | 94 | 0.0106 | 979 | c.79+ others(996): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(972): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 94 | 0.0106 | 979 | c.79+ others(996): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(972): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 394 | 0.0025 | 979 | c.129 others(996): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(972): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0108 | 1 | 202 | 0.0050 | 979 | c.*53 others(990): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169884 | C | CCACCTCT others(972): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 115 | 0.0087 | 979 | c.*14 others(988): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 59 | chrX | TogoVar | ||||||
ZNF595_chr4_48321_93208 | 73241 | A | ATTAGAAA others(972): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 308 | 0.0033 | 979 | c.227 others(998): Show |
ZNF595 | ENSG00000272602.6 | transcript | ENST00000610261.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |