Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 6508945 6508945 C > T ESPN NM_031475.2:c.1709C>T
NP_113663.2:p.Pro570Leu
79/9594 0.00422 5 non_synonymous Benign
View 1 6528302 6528302 T > C PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 NM_001042663.1:c.2762A>G
NM_001042665.1:c.2594A>G
NM_001042664.1:c.2594A>G
NM_001265593.1:c.2801A>G
NM_020631.4:c.2594A>G
NM_001265594.1:c.2594A>G
NM_001265592.1:c.2831A>G
NM_198681.3:c.2825A>G
NP_001036128.1:p.Gln921Arg
NP_001036130.1:p.Gln865Arg
NP_001036129.1:p.Gln865Arg
NP_001252522.1:p.Gln934Arg
NP_065682.2:p.Gln865Arg
NP_001252523.1:p.Gln865Arg
NP_001252521.1:p.Gln944Arg
NP_941374.2:p.Gln942Arg
91/11422 0.00403 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 7723407 7723407 C > - CAMTA1 NM_015215.2:c.806-5del
168/9594 0.00881 5 polypyrimidine_tract Benign
View 1 8420503 8420503 G > C RERE RERE RERE NM_012102.3:c.3064C>G
NM_001042682.1:c.1402C>G
NM_001042681.1:c.3064C>G
NP_036234.3:p.Pro1022Ala
NP_001036147.1:p.Pro468Ala
NP_001036146.1:p.Pro1022Ala
36/9594 0.00193 5 non_synonymous Benign
View 1 8526071 8526071 C > T RERE RERE NM_012102.3:c.1117G>A
NM_001042681.1:c.1117G>A
NP_036234.3:p.Gly373Ser
NP_001036146.1:p.Gly373Ser
41/9594 0.00214 5 non_synonymous Benign
View 1 8716306 8716307 - > CGGTCC RERE RERE NM_012102.3:c.45_50dupGGACCG
NM_001042681.1:c.45_50dupGGACCG
NP_036234.3:p.Asp20_Arg21dup
NP_001036146.1:p.Asp20_Arg21dup
136/9594 0.00709 5 in_frame_indel Benign
View 1 11252369 11252369 G > A ANGPTL7 MTOR NM_021146.3:c.419G>A
NM_004958.3:c.4253+6946C>T
NP_066969.1:p.Arg140His
36/9556 0.00194 5 non_synonymous Benign
View 1 11308007 11308007 C > T MTOR NM_004958.3:c.985G>A
NP_004949.1:p.Ala329Thr
67/9594 0.00349 5 non_synonymous Benign
View 1 12017959 12017959 A > G PLOD1 NM_000302.3:c.802A>G
NP_000293.2:p.Thr268Ala
22/11422 0.00096 5 non_synonymous Benign
View 1 12071540 12071540 C > A MFN2 MFN2 NM_001127660.1:c.2205-13C>A
NM_014874.3:c.2205-13C>A
58/9555 0.00304 5 polypyrimidine_tract Benign
View 1 17380507 17380507 G > C SDHB TRNAN-GUU NM_003000.2:c.8C>G
NP_002991.2:p.Ala3Gly
59/9594 0.00307 5 Benign
View 1 21889760 21889760 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.455G>A
ENST00000539907.1:c.224G>A
ENST00000540617.1:c.290G>A
ENSP00000363973.3:p.Arg152His
ENSP00000437674.1:p.Arg75His
ENSP00000442672.1:p.Arg97His
264/11422 0.01169 5 Benign
View 1 21904140 21904140 G > - TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.1574del
ENST00000539907.1:c.1343del
ENST00000540617.1:c.1409del
ENSP00000363973.3:p.Ter525=
ENSP00000437674.1:p.Ter448=
ENSP00000442672.1:p.Ter470=
18/11422 0.00079 5 premature_stop Benign
View 1 22202856 22202856 T > G TRNAN-GUU HSPG2 NM_005529.5:c.2869A>C
NP_005520.4:p.Asn957His
120/11422 0.00534 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 24671406 24671406 C > A GRHL3 TRNAN-GUU GRHL3 GRHL3 GRHL3 NM_198174.2:c.1439C>A
NM_198173.2:c.1439C>A
NM_001195010.1:c.1301C>A
NM_021180.3:c.1454C>A
NP_937817.3:p.Pro480His
NP_937816.1:p.Pro480His
NP_001181939.1:p.Pro434His
NP_067003.2:p.Pro485His
164/9594 0.00855 5 non_synonymous Benign
View 1 27023252 27023252 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.358C>T
NM_006015.4:c.358C>T
NP_624361.1:p.Pro120Ser
NP_006006.3:p.Pro120Ser
32/9594 0.00167 5 Benign
View 1 27087549 27087549 A > C ARID1A TRNAN-GUU ARID1A NM_139135.2:c.2123A>C
NM_006015.4:c.2123A>C
NP_624361.1:p.Gln708Pro
NP_006006.3:p.Gln708Pro
10/9594 0.00052 5 non_synonymous Benign
View 1 27690770 27690770 A > C TRNAN-GUU MAP3K6 NM_004672.3:c.620T>G
NP_004663.3:p.Val207Gly
170/9594 0.00928 5 Benign
View 1 27878415 27878415 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.212C>T
NP_001025053.1:p.Thr71Ile
86/9594 0.00453 3 non_synonymous Benign
View 1 32043806 32043806 G > A TRNAN-GUU TINAGL1 TINAGL1 TINAGL1 NM_001204415.1:c.-6+17G>A
NM_001204414.1:c.310+747G>A
NM_022164.2:c.310+747G>A
79/9555 0.00419 5 five_prime_intronic Benign
View 1 43396414 43396414 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.399C>T
NP_006507.2:p.Cys133=
3122/9594 0.1797 5 Benign
View 1 45973124 45973124 G > C TRNAN-GUU MMACHC NM_015506.2:c.178G>C
NP_056321.2:p.Asp60His
176/11422 0.00797 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 52861899 52861899 T > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.540A>C
NM_004153.3:c.540A>C
NM_001190819.1:c.540A>C
NP_001177747.1:p.Gln180His
NP_004144.2:p.Gln180His
NP_001177748.1:p.Gln180His
68/9594 0.00365 5 non_synonymous Benign
View 1 53676401 53676401 T > G TRNAN-GUU CPT2 NM_000098.2:c.1055T>G
NP_000089.1:p.Phe352Cys
194/11422 0.00884 5 Benign
View 1 63021621 63021621 A > G DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.2471T>C
NM_001271999.1:c.2471T>C
NM_033407.3:c.2471T>C
NM_001272001.1:c.2471T>C
NP_001258929.1:p.Ile824Thr
NP_001258928.1:p.Ile824Thr
NP_212132.2:p.Ile824Thr
NP_001258930.1:p.Ile824Thr
60/9594 0.00323 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 63044648 63044648 A > - DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1872-9del
NM_001271999.1:c.1872-9del
NM_033407.3:c.1872-9del
NM_001272001.1:c.1872-9del
169/9555 0.0089 5 polypyrimidine_tract Benign
View 1 63044648 63044649 - > A DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1872-9dupT
NM_001271999.1:c.1872-9dupT
NM_033407.3:c.1872-9dupT
NM_001272001.1:c.1872-9dupT
25/9555 0.00131 5 polypyrimidine_tract Benign
View 1 63085630 63085630 T > C DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1460A>G
NM_001271999.1:c.1460A>G
NM_033407.3:c.1460A>G
NM_001272002.1:c.1460A>G
NM_001272001.1:c.1460A>G
NP_001258929.1:p.Lys487Arg
NP_001258928.1:p.Lys487Arg
NP_212132.2:p.Lys487Arg
NP_001258931.1:p.Lys487Arg
NP_001258930.1:p.Lys487Arg
72/9594 0.00375 5 non_synonymous Benign
View 1 63788984 63788995 GGCCGGAGCCGG > - TRNAN-GUU FOXD3 NM_012183.2:c.262_273del
NP_036315.1:p.Ala88_Gly91del
89/9594 0.00474 5 in_frame_indel Benign
View 1 68897002 68897002 G > A TRNAN-GUU RPE65 NM_000329.2:c.1301C>T
NP_000320.1:p.Ala434Val
128/9594 0.00688 5 Benign
View 1 92763093 92763093 A > - TRNAN-GUU GLMN NM_053274.2:c.40-6del
149/9594 0.00803 5 polypyrimidine_tract Benign
View 1 94461749 94461749 C > T TRNAN-GUU ABCA4 ENST00000370225.3:c.6732G>A
ENSP00000359245.3:p.Val2244=
126/9595 0.00683 5 Benign
View 1 94497563 94497563 C > T TRNAN-GUU ABCA4 ENST00000370225.3:c.3899G>A
ENSP00000359245.3:p.Arg1300Gln
114/9594 0.0061 5 Benign
View 1 94505604 94505604 A > C TRNAN-GUU ABCA4 ENST00000370225.3:c.3602T>G
ENSP00000359245.3:p.Leu1201Arg
170/9594 0.00938 5 Benign
View 1 100327088 100327088 A > G AGL AGL TRNAN-GUU AGL AGL AGL AGL NM_000642.2:c.112A>G
NM_000643.2:c.112A>G
NM_000644.2:c.112A>G
NM_000645.2:c.61A>G
NM_000646.2:c.64A>G
NM_000028.2:c.112A>G
NP_000633.2:p.Thr38Ala
NP_000634.2:p.Thr38Ala
NP_000635.2:p.Thr38Ala
NP_000636.2:p.Thr21Ala
NP_000637.2:p.Thr22Ala
NP_000019.2:p.Thr38Ala
102/11422 0.00455 5 Benign
View 1 100681587 100681587 A > G TRNAN-GUU DBT ENST00000370132.4:c.724T>C
ENSP00000359151.3:p.Ser242Pro
196/11422 0.00867 5 non_synonymous Benign
View 1 103354135 103354135 G > C COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.4642C>G
NM_001854.3:c.4606C>G
NM_001190709.1:c.4489C>G
NM_080630.3:c.4258C>G
NP_542196.2:p.Pro1548Ala
NP_001845.3:p.Pro1536Ala
NP_001177638.1:p.Pro1497Ala
NP_542197.3:p.Pro1420Ala
174/9594 0.00917 5 non_synonymous Benign
View 1 103444970 103444970 A > T COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2614T>A
NM_001854.3:c.2578T>A
NM_001190709.1:c.2461T>A
NM_080630.3:c.2230T>A
NP_542196.2:p.Phe872Ile
NP_001845.3:p.Phe860Ile
NP_001177638.1:p.Phe821Ile
NP_542197.3:p.Phe744Ile
87/9594 0.00453 5 Benign
View 1 114372335 114372335 A > - PTPN22 TRNAN-GUU PTPN22 ENST00000359785.5:c.2135-4del
ENST00000528414.1:c.1970-4del
274/9594 0.02137 5 polypyrimidine_tract Benign
View 1 116269619 116269619 T > C CASQ2 TRNAN-GUU NM_001232.3:c.731A>G
NP_001223.2:p.His244Arg
132/9594 0.00735 5 Benign
View 1 119964831 119964831 T > C HSD3B2 HSD3B2 TRNAN-GUU NM_001166120.1:c.707T>C
NM_000198.3:c.707T>C
NP_001159592.1:p.Leu236Ser
NP_000189.1:p.Leu236Ser
77/11422 0.00355 5 Benign
View 1 120465262 120465262 C > T TRNAN-GUU NOTCH2 NM_024408.3:c.4999G>A
NP_077719.2:p.Val1667Ile
67/9594 0.00354 5 non_synonymous Benign
View 1 120469147 120469147 T > C TRNAN-GUU NOTCH2 NM_024408.3:c.3980A>G
NP_077719.2:p.Asp1327Gly
150/9595 0.00792 5 Benign
View 1 120491644 120491644 G > A NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.2585C>T
NM_024408.3:c.2585C>T
NP_001186930.1:p.Ala862Val
NP_077719.2:p.Ala862Val
13/9594 0.00068 5 non_synonymous Benign
View 1 120572547 120572547 T > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.137A>G
NM_024408.3:c.137A>G
NP_001186930.1:p.Asn46Ser
NP_077719.2:p.Asn46Ser
5899/9594 0.30806 5 non_synonymous Benign
View 1 120572572 120572572 C > T NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.112G>A
NM_024408.3:c.112G>A
NP_001186930.1:p.Glu38Lys
NP_077719.2:p.Glu38Lys
5965/9594 0.31144 5 non_synonymous Benign
View 1 120611964 120611964 G > C NOTCH2 TRNAN-GUU NOTCH2 NM_001200001.1:c.57C>G
NM_024408.3:c.57C>G
NP_001186930.1:p.Cys19Trp
NP_077719.2:p.Cys19Trp
7845/9604 0.40983 5 non_synonymous Benign
View 1 152280325 152280325 A > G FLG NM_002016.1:c.7037T>C
NP_002007.1:p.Ile2346Thr
77/9555 0.00413 5 non_synonymous Benign
View 1 155210498 155210498 T > C GBA GBA GBA GBA GBA NM_001171812.1:c.38A>G
NM_001171811.1:c.-146-630A>G
NM_001005741.2:c.38A>G
NM_001005742.2:c.38A>G
NM_000157.3:c.38A>G
NP_001165283.1:p.Lys13Arg
NP_001005741.1:p.Lys13Arg
NP_001005742.1:p.Lys13Arg
NP_000148.2:p.Lys13Arg
157/11422 0.00709 5 Benign
View 1 155408644 155408644 G > A ASH1L NM_018489.2:c.5302C>T
NP_060959.2:p.Pro1768Ser
39/9594 0.00203 5 non_synonymous Benign
Displaying 1 through 50 of 1,030 variants