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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FABP2_chr4_119312250_119327138 | 119319647 | C | CATA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0008others(4): Show | a0001c0001t0002g0041a0001c0003t0001g0030a0001c0003t0008g0029others(4): Show | 30 | 420 | 0.0714 | 3 | c.241 others(14): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | C | CATAATA | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02055.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0004t0003others(1): Show | a0001c0001t0002g0011a0001c0001t0012g0024a0001c0004t0003g0014others(2): Show | 16 | 420 | 0.0381 | 6 | c.241 others(18): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | C | CATAATAA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(92): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0018a0001c0001t0002g0048others(6): Show | 95 | 420 | 0.2262 | 9 | c.241 others(21): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | C | CATAATAA others(5): Show |
splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG01109.hp1 HG01168.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0044a0001c0001t0004g0046others(2): Show | 33 | 420 | 0.0786 | 12 | c.241 others(24): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | C | CATAATAA others(8): Show |
splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG03471.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0019a0001c0001t0004g0047 | 4 | 420 | 0.0095 | 15 | c.241 others(27): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | CATA | C | splice_region_variant others(1): Show |
LOW | HG01975.hp2 HG02083.hp1 HG02109.hp1 others(37): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0003t0001g0009a0001c0003t0001g0026a0001c0004t0001g0007others(3): Show | 40 | 420 | 0.0952 | -3 | c.241 others(14): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | CATAATA | C | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02615.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0021a0001c0001t0009g0020 | 6 | 420 | 0.0143 | -6 | c.241 others(18): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319650 | A | C | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 420 | 0.0024 | 0 | c.241 others(5): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
FABP4_chr8_81473419_81488233 | 81480601 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 406 | 0.0025 | 0 | c.74- others(4): Show |
FABP4 | ENSG00000170323.9 | transcript | ENST00000256104.5 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
FABP7_chr6_122774716_122789074 | 122781200 | T | C | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 5 | 480 | 0.0104 | 0 | c.348 others(5): Show |
FABP7 | ENSG00000164434.12 | transcript | ENST00000368444.8 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
FABP7_chr6_122774716_122789074 | 122783709 | C | A | splice_region_variant others(1): Show |
LOW | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 480 | 0.0021 | 0 | c.349 others(5): Show |
FABP7 | ENSG00000164434.12 | transcript | ENST00000368444.8 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
FABP9_chr8_81453253_81466579 | 81458431 | T | C | splice_region_variant others(1): Show |
LOW | NA18952.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0028 | 1 | 430 | 0.0023 | 0 | c.351 others(3): Show |
p.Glu others(6): Show |
FABP9 | ENSG00000205186.4 | transcript | ENST00000379071.4 | protein_coding | 4/4 | 407/585 | 351/399 | 117/132 | chr8 | TogoVar | ||
FABP9_chr8_81453253_81466579 | 81458437 | A | G | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01167.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0013a0001c0002t0001g0014a0001c0002t0001g0021others(1): Show | 12 | 430 | 0.0279 | 0 | c.349 others(5): Show |
FABP9 | ENSG00000205186.4 | transcript | ENST00000379071.4 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61863792 | C | T | splice_region_variant others(1): Show |
LOW | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 280 | 0.0036 | 0 | c.115 others(6): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
FADS3_chr11_61868526_61896545 | 61876460 | G | C | splice_region_variant others(1): Show |
LOW | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 418 | 0.0024 | 0 | c.984 others(5): Show |
FADS3 | ENSG00000221968.9 | transcript | ENST00000278829.7 | protein_coding | 8/11 | chr11 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74877301 | CT | C | splice_region_variant | LOW | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(40): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0011a0002c0002others(9): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0004g0100a0001c0001t0005g0007a0001c0001t0005g0013others(37): Show | 43 | 440 | 0.0977 | -1 | c.*10 others(6): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74877301 | CTT | C | splice_region_variant | LOW | HG00438.hp2 HG00621.hp2 HG02040.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0013a0002c0002t0003others(5): Show | a0001c0001t0003g0011a0001c0001t0003g0024a0001c0001t0003g0103others(20): Show | 25 | 440 | 0.0568 | -2 | c.*10 others(13): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74878480 | G | A | splice_region_variant others(1): Show |
LOW | HG02015.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0057 | 1 | 440 | 0.0023 | 0 | c.961 others(5): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50475685 | G | A | splice_region_variant others(1): Show |
LOW | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0033 | 1 | 190 | 0.0053 | 0 | c.165 others(6): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 17/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50491713 | A | C | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02965.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0109a0001c0001t0001g0110 | 3 | 190 | 0.0158 | 0 | c.157 others(6): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 16/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50655526 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01175.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0002t0001g0047a0001c0002t0001g0048a0001c0002t0001g0049others(8): Show | 11 | 190 | 0.0579 | 0 | c.660 others(3): Show |
p.Val others(6): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 8/19 | 1116/6821 | 660/1953 | 220/650 | chr1 | TogoVar | ||
FAF2_chr5_176443385_176515074 | 176498911 | C | T | splice_region_variant others(1): Show |
LOW | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 372 | 0.0027 | 0 | c.840 others(5): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 8/10 | chr5 | TogoVar | ||||||
FAHD2A_chr2_95397708_95421616 | 95406933 | C | T | splice_region_variant others(1): Show |
LOW | HG02027.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 354 | 0.0057 | 0 | c.246 others(5): Show |
FAHD2A | ENSG00000115042.10 | transcript | ENST00000233379.9 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAHD2B_chr2_97078583_97099882 | 97086196 | C | T | splice_region_variant others(1): Show |
LOW | NA18945.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0116 | 1 | 414 | 0.0024 | 0 | c.465 others(3): Show |
p.Glu others(6): Show |
FAHD2B | ENSG00000144199.12 | transcript | ENST00000414820.6 | protein_coding | 5/9 | 779/1431 | 465/945 | 155/314 | chr2 | TogoVar | ||
FAHD2B_chr2_97078583_97099882 | 97086206 | G | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 414 | 0.0024 | 0 | c.463 others(5): Show |
FAHD2B | ENSG00000144199.12 | transcript | ENST00000414820.6 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80181163 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02055.hp2 HG02109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0044others(10): Show | 21 | 428 | 0.0491 | 0 | c.118 others(6): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 13/13 | chr15 | TogoVar | ||||||
FAIM2_chr12_49861896_49908900 | 49897549 | GTCACCAG others(26): Show |
G | disruptive_inframe_deletion others(1): Show |
MODERATE | HG00738.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0227 | 1 | 436 | 0.0023 | -33 | c.317 others(40): Show |
p.Val others(19): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 4/12 | 457/4667 | 317/951 | 106/316 | chr12 | TogoVar | ||
FAIM_chr3_138603771_138638376 | 138629155 | C | T | missense_variant others(1): Show |
MODERATE | NA18982.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0185 | 1 | 368 | 0.0027 | 0 | c.455 others(3): Show |
p.Ala others(6): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 5/6 | 638/1086 | 455/606 | 152/201 | chr3 | TogoVar | ||
FAM104A_chr17_73202365_73237394 | 73232083 | C | T | splice_region_variant others(1): Show |
LOW | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 400 | 0.0025 | 0 | c.221 others(5): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
FAM114A1_chr4_38862806_38950739 | 38878425 | T | C | missense_variant others(1): Show |
MODERATE | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(73): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0016others(23): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(43): Show | a0002c0003t0001g0120a0002c0003t0001g0122a0002c0003t0001g0126others(73): Show | 76 | 372 | 0.2043 | 0 | c.347 others(3): Show |
p.Leu others(6): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3/15 | 533/4060 | 347/1692 | 116/563 | chr4 | TogoVar | ||
FAM114A1_chr4_38862806_38950739 | 38905522 | G | T | missense_variant others(1): Show |
MODERATE | HG04115.hp2 | a0015 | a0015c0047 | a0015c0047t0009 | a0015c0047t0009g0155 | 1 | 372 | 0.0027 | 0 | c.437 others(3): Show |
p.Gly others(6): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 5/15 | 623/4060 | 437/1692 | 146/563 | chr4 | TogoVar | ||
FAM114A1_chr4_38862806_38950739 | 38931443 | C | T | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0008 | a0008c0014 | a0008c0014t0023 | a0008c0014t0023g0305 | 1 | 372 | 0.0027 | 0 | c.116 others(6): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 10/14 | chr4 | TogoVar | ||||||
FAM114A1_chr4_38862806_38950739 | 38932379 | G | A | splice_region_variant others(1): Show |
LOW | HG02622.hp1 HG02622.hp2 HG02647.hp1 others(9): Show |
a0005a0008a0012 | a0005c0012a0005c0015a0005c0030others(3): Show | a0005c0012t0001a0005c0012t0033a0005c0012t0034others(8): Show | a0005c0012t0001g0029a0005c0012t0033g0341a0005c0012t0034g0023others(9): Show | 12 | 372 | 0.0323 | 0 | c.146 others(6): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 12/14 | chr4 | TogoVar | ||||||
FAM114A2_chr5_153985148_154043910 | 154002251 | T | C | missense_variant others(1): Show |
MODERATE | HG02622.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0186 | 1 | 344 | 0.0029 | 0 | c.125 others(4): Show |
p.Gln others(6): Show |
FAM114A2 | ENSG00000055147.19 | transcript | ENST00000351797.9 | protein_coding | 11/14 | 1324/4414 | 1256/1518 | 419/505 | chr5 | TogoVar | ||
FAM117A_chr17_49705332_49769131 | 49710332 | T | G | splice_region_variant | LOW | HG02809.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0063a0001c0001t0005g0296 | 2 | 336 | 0.0060 | 0 | c.*92 others(4): Show |
FAM117A | ENSG00000121104.8 | transcript | ENST00000240364.7 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45310188 | G | A | splice_region_variant others(1): Show |
LOW | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 416 | 0.0024 | 0 | c.-10 others(5): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45327999 | TGGAGGCC others(321): Show |
T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(225): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(167): Show | 228 | 416 | 0.5481 | -328 | c.522 others(13): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328066 | A | G | splice_region_variant others(1): Show |
LOW | NA19083.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0119 | 1 | 416 | 0.0024 | 0 | c.522 others(5): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328067 | T | C | splice_region_variant others(1): Show |
LOW | NA18945.hp1 NA18967.hp2 NA18990.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126a0002c0002t0002g0127a0002c0002t0002g0128others(1): Show | 4 | 416 | 0.0096 | 0 | c.522 others(5): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45332715 | G | A | splice_region_variant others(1): Show |
LOW | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0208 | 1 | 416 | 0.0024 | 0 | c.937 others(5): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 6/8 | chr22 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126261482 | G | A | missense_variant others(1): Show |
MODERATE | HG02572.hp2 HG02809.hp1 HG06807.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0261a0002c0003t0001g0262a0002c0003t0001g0264 | 3 | 346 | 0.0087 | 0 | c.104 others(4): Show |
p.Arg others(6): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 8/9 | 1165/2016 | 1040/1056 | 347/351 | chr11 | TogoVar | ||
FAM120AOS_chr9_93438332_93458581 | 93450603 | C | CA | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG02055.hp2 HG02135.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0020a0001c0001t0040a0003c0003t0020 | a0001c0001t0020g0070a0001c0001t0040g0068a0001c0001t0040g0069others(3): Show | 6 | 422 | 0.0142 | 1 | c.564 others(6): Show |
FAM120AOS | ENSG00000188938.17 | transcript | ENST00000375412.11 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
FAM120C_chrX_54063324_54188254 | 54091307 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(186): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0022others(184): Show | 189 | 190 | 0.9947 | 0 | c.242 others(6): Show |
FAM120C | ENSG00000184083.12 | transcript | ENST00000375180.7 | protein_coding | 11/15 | chrX | TogoVar | ||||||
FAM124B_chr2_224373698_224407107 | 224380206 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002others(2): Show | a0001c0003t0001a0001c0003t0010a0001c0005t0001others(5): Show | a0001c0003t0001g0026a0001c0003t0001g0038a0001c0003t0001g0124others(64): Show | 104 | 442 | 0.2353 | 0 | c.735 others(3): Show |
p.Val others(6): Show |
FAM124B | ENSG00000124019.10 | transcript | ENST00000409685.4 | protein_coding | 2/2 | 1074/2582 | 735/1368 | 245/455 | chr2 | TogoVar | ||
FAM131C_chr1_16052769_16078651 | 16059496 | T | C | missense_variant others(1): Show |
MODERATE | HG01884.hp2 HG02257.hp1 HG02622.hp1 others(2): Show |
a0007 | a0007c0008a0007c0014 | a0007c0008t0013a0007c0014t0028 | a0007c0008t0013g0037a0007c0008t0013g0113a0007c0008t0013g0114others(1): Show | 5 | 376 | 0.0133 | 0 | c.560 others(3): Show |
p.Gln others(6): Show |
FAM131C | ENSG00000185519.9 | transcript | ENST00000375662.5 | protein_coding | 6/7 | 769/1720 | 560/843 | 187/280 | chr1 | TogoVar | ||
FAM131C_chr1_16052769_16078651 | 16062190 | C | A | missense_variant others(1): Show |
MODERATE | HG00642.hp2 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0089 | 1 | 376 | 0.0027 | 0 | c.177 others(3): Show |
p.Arg others(5): Show |
FAM131C | ENSG00000185519.9 | transcript | ENST00000375662.5 | protein_coding | 4/7 | 386/1720 | 177/843 | 59/280 | chr1 | TogoVar | ||
FAM131C_chr1_16052769_16078651 | 16062532 | G | A | splice_region_variant others(1): Show |
LOW | HG03669.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0132 | 1 | 376 | 0.0027 | 0 | c.141 others(3): Show |
p.Asp others(5): Show |
FAM131C | ENSG00000185519.9 | transcript | ENST00000375662.5 | protein_coding | 3/7 | 350/1720 | 141/843 | 47/280 | chr1 | TogoVar | ||
FAM131C_chr1_16052769_16078651 | 16062541 | CAAGAG | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0005 | a0005c0005 | a0005c0005t0010a0005c0005t0018a0005c0005t0031 | a0005c0005t0010g0016a0005c0005t0010g0057a0005c0005t0010g0058others(3): Show | 9 | 376 | 0.0239 | -5 | c.139 others(17): Show |
FAM131C | ENSG00000185519.9 | transcript | ENST00000375662.5 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
FAM135B_chr8_138125023_138502261 | 138137267 | A | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(187): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0004a0001c0005others(28): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0018others(72): Show | a0001c0003t0003g0016a0001c0003t0003g0023a0001c0003t0003g0026others(187): Show | 190 | 212 | 0.8962 | 0 | c.390 others(6): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 18/19 | chr8 | TogoVar | ||||||
FAM135B_chr8_138125023_138502261 | 138148521 | A | G | splice_region_variant others(1): Show |
LOW | HG01106.hp2 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0170 | 1 | 212 | 0.0047 | 0 | c.344 others(4): Show |
p.Asp others(7): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 14/20 | 4057/7401 | 3447/4221 | 1149/1406 | chr8 | TogoVar |