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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 27100369 | 27100369 | A > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4081A>G NM_006015.4:c.4081A>G |
NP_624361.1:p.Met1361Val NP_006006.3:p.Met1361Val |
5/8685 | 0.00029 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27105617 | 27105617 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4577C>T NM_006015.4:c.5228C>T |
NP_624361.1:p.Thr1526Met NP_006006.3:p.Thr1743Met |
4/8685 | 0.00023 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27105700 | 27105700 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4660C>T NM_006015.4:c.5311C>T |
NP_624361.1:p.Pro1554Ser NP_006006.3:p.Pro1771Ser |
2/8685 | 0.00012 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27106106 | 27106106 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.5066G>A NM_006015.4:c.5717G>A |
NP_624361.1:p.Arg1689Gln NP_006006.3:p.Arg1906Gln |
50/8685 | 0.00288 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27106333 | 27106333 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.5293G>A NM_006015.4:c.5944G>A |
NP_624361.1:p.Val1765Ile NP_006006.3:p.Val1982Ile |
4/8685 | 0.00023 | 4 | Likely Benign | |
| View | 1 | 27121140 | 27121140 | C > T | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.615C>T NM_017837.3:c.615C>T |
NP_001189483.1:p.Asn205= NP_060307.2:p.Asn205= |
41/8685 | 0.00236 | 4 | Likely Benign | |
| View | 1 | 27124222 | 27124222 | C > T | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.1369C>T NM_017837.3:c.1369C>T |
NP_001189483.1:p.Leu457Phe NP_060307.2:p.Leu457Phe |
6/8685 | 0.00035 | 4 | Likely Benign | |
| View | 1 | 27683230 | 27683232 | CTT > - | TRNAN-GUU MAP3K6 |
NM_004672.3:c.3373_3375del |
NP_004663.3:p.Lys1125del |
171/8685 | 0.00984 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 27684750 | 27684750 | G > A | TRNAN-GUU MAP3K6 |
NM_004672.3:c.2837C>T |
NP_004663.3:p.Pro946Leu |
57/8685 | 0.00328 | 4 | Likely Benign | |
| View | 1 | 27875626 | 27875626 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.3001G>A |
NP_001025053.1:p.Ala1001Thr |
2/8685 | 0.00012 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877117 | 27877117 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1510G>A |
NP_001025053.1:p.Val504Met |
36/8685 | 0.00207 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877216 | 27877216 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1411G>A |
NP_001025053.1:p.Val471Met |
146/8685 | 0.00846 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877392 | 27877392 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1235G>A |
NP_001025053.1:p.Arg412His |
95/8685 | 0.00547 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877816 | 27877816 | G > C | TRNAN-GUU AHDC1 |
NM_001029882.2:c.811C>G |
NP_001025053.1:p.Pro271Ala |
7/8685 | 0.0004 | 3 | non_synonymous | Likely Benign |
| View | 1 | 27878341 | 27878341 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.286C>T |
NP_001025053.1:p.Arg96Cys |
11/8685 | 0.00063 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27878527 | 27878527 | T > G | TRNAN-GUU AHDC1 |
NM_001029882.2:c.100A>C |
NP_001025053.1:p.Thr34Pro |
113/8685 | 0.00651 | 4 | non_synonymous | Likely Benign |
| View | 1 | 29527028 | 29527028 | G > A | TRNAN-GUU MECR MECR |
NM_016011.2:c.830C>T NM_001024732.1:c.602C>T |
NP_057095.2:p.Ala277Val NP_001019903.1:p.Ala201Val |
102/8646 | 0.00596 | 4 | non_synonymous | Likely Benign |
| View | 1 | 33478877 | 33478877 | C > T | AK2 TRNAN-GUU AK2 AK2 AK2 AK2 |
NM_001625.3:c.625G>A NM_001199199.1:c.601G>A NM_013411.4:c.625G>A NR_037591.1:n.826G>A NR_037592.1:n.826G>A |
NP_001616.1:p.Ala209Thr NP_001186128.1:p.Ala201Thr NP_037543.1:p.Ala209Thr |
157/8685 | 0.00915 | 4 | non_synonymous | Likely Benign |
| View | 1 | 38006337 | 38006337 | C > T | TRNAN-GUU SNIP1 |
NM_024700.3:c.347G>A |
NP_078976.2:p.Arg116Gln |
10/8685 | 0.00058 | 4 | non_synonymous | Likely Benign |
| View | 1 | 40546065 | 40546065 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.318+4A>G NM_000310.3:c.627+4A>G |
8/10521 | 0.00043 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 40557075 | 40557075 | C > T | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.125-1891G>A NM_000310.3:c.363-4G>A |
109/10521 | 0.00528 | 4 | Likely Benign | ||
| View | 1 | 43395555 | 43395555 | C > T | TRNAN-GUU SLC2A1 |
NM_006516.2:c.668G>A |
NP_006507.2:p.Arg223Gln |
2/8685 | 0.00012 | 4 | Likely Benign | |
| View | 1 | 43396718 | 43396718 | G > T | TRNAN-GUU SLC2A1 |
NM_006516.2:c.274C>A |
NP_006507.2:p.Arg92= |
2/8685 | 0.00017 | 4 | Likely Benign | |
| View | 1 | 43896217 | 43896217 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4360G>A |
NP_056099.3:p.Val1454Ile |
82/8685 | 0.00472 | 4 | non_synonymous | Likely Benign |
| View | 1 | 43897114 | 43897114 | A > G | TRNAN-GUU SZT2 |
NM_015284.3:c.4854-17A>G |
36/8646 | 0.00208 | 4 | Common ExAC MAF original cat: TYPE_3 - three_prime_flank | Likely Benign | |
| View | 1 | 43900858 | 43900858 | C > G | TRNAN-GUU SZT2 |
NM_015284.3:c.5734-13C>G |
3/8646 | 0.00017 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 43907225 | 43907225 | T > C | TRNAN-GUU SZT2 |
NM_015284.3:c.7391T>C |
NP_056099.3:p.Val2464Ala |
92/8685 | 0.00541 | 4 | non_synonymous | Likely Benign |
| View | 1 | 43907236 | 43907236 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.7402G>A |
NP_056099.3:p.Val2468Ile |
34/8685 | 0.00196 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 43916939 | 43916939 | A > C | HYI TRNAN-GUU HYI HYI SZT2 |
NM_001190880.2:c.804T>G NM_031207.5:c.*42T>G NM_001243526.1:c.*42T>G NM_015284.3:c.*788A>C |
NP_001177809.1:p.Asp268Glu |
42/8646 | 0.00243 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 43917601 | 43917601 | C > T | HYI TRNAN-GUU HYI HYI SZT2 |
NM_001190880.2:c.505+5G>A NM_031207.5:c.505+5G>A NM_001243526.1:c.580+5G>A NM_015284.3:c.*1450C>T |
40/8646 | 0.00231 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Likely Benign | |
| View | 1 | 43919066 | 43919066 | C > T | HYI TRNAN-GUU HYI HYI SZT2 |
NM_001190880.2:c.302G>A NM_031207.5:c.302G>A NM_001243526.1:c.284+18G>A NM_015284.3:c.*2915C>T |
NP_001177809.1:p.Gly101Asp NP_112484.3:p.Gly101Asp |
10/8646 | 0.00058 | 4 | non_synonymous | Likely Benign |
| View | 1 | 45345481 | 45345481 | T > C | EIF2B3 TRNAN-GUU EIF2B3 EIF2B3 |
NM_020365.4:c.975+9A>G NM_001166588.2:c.975+9A>G NM_001261418.1:c.975+9A>G |
73/8685 | 0.0042 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |
| View | 1 | 45799121 | 45799121 | G > A | TRNAN-GUU MUTYH MUTYH MUTYH MUTYH MUTYH MUTYH |
NM_001128425.1:c.312C>T NM_001048171.1:c.270C>T NM_012222.2:c.303C>T NM_001048172.1:c.231C>T NM_001048173.1:c.228C>T NM_001048174.1:c.228C>T |
NP_001121897.1:p.Tyr104= NP_001041636.1:p.Tyr90= NP_036354.1:p.Tyr101= NP_001041637.1:p.Tyr77= NP_001041638.1:p.Tyr76= NP_001041639.1:p.Tyr76= |
24/8685 | 0.00138 | 4 | Likely Benign | |
| View | 1 | 45808982 | 45808982 | G > A | TRNAN-GUU TOE1 |
NM_025077.3:c.1141G>A |
NP_079353.3:p.Glu381Lys |
44/8646 | 0.00254 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 47746113 | 47746113 | T > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.2017A>G NM_003035.2:c.2017A>G |
NP_001041631.1:p.Ser673Gly NP_003026.2:p.Ser673Gly |
63/8685 | 0.00374 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 47746675 | 47746675 | C > G | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1455G>C NM_003035.2:c.1455G>C |
NP_001041631.1:p.Leu485Phe NP_003026.2:p.Leu485Phe |
43/8685 | 0.00248 | 4 | Likely Benign | |
| View | 1 | 47753301 | 47753301 | C > T | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1055G>A NM_003035.2:c.1055G>A |
NP_001041631.1:p.Arg352His NP_003026.2:p.Arg352His |
22/8685 | 0.00127 | 3 | non_synonymous | Likely Benign |
| View | 1 | 47767215 | 47767215 | G > A | STIL TRNAN-GUU STIL |
NM_001048166.1:c.453+18C>T NM_003035.2:c.453+18C>T |
80/8647 | 0.0048 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |
| View | 1 | 52840559 | 52840559 | C > T | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.2314G>A NM_004153.3:c.2314G>A NM_001190819.1:c.2299G>A |
NP_001177747.1:p.Val772Ile NP_004144.2:p.Val772Ile NP_001177748.1:p.Val767Ile |
93/8685 | 0.00535 | 4 | non_synonymous | Likely Benign |
| View | 1 | 52867839 | 52867839 | C > G | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.57G>C NM_004153.3:c.57G>C NM_001190819.1:c.57G>C |
NP_001177747.1:p.Arg19Ser NP_004144.2:p.Arg19Ser NP_001177748.1:p.Arg19Ser |
127/8685 | 0.00743 | 4 | non_synonymous | Likely Benign |
| View | 1 | 61872217 | 61872217 | C > - | NFIA TRNAN-GUU NFIA NFIA NFIA |
NM_001145512.1:c.1390-5del NM_005595.4:c.1255-5del NM_001134673.3:c.1255-5del NM_001145511.1:c.1231-5del |
452/8646 | 0.02706 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 61872217 | 61872218 | CC > - | NFIA TRNAN-GUU NFIA NFIA NFIA |
NM_001145512.1:c.1390-6_1390-5del NM_005595.4:c.1255-6_1255-5del NM_001134673.3:c.1255-6_1255-5del NM_001145511.1:c.1231-6_1231-5del |
180/8646 | 0.01093 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 63063616 | 63063616 | C > T | DOCK7 TRNAN-GUU DOCK7 ANGPTL3 DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1683-11321G>A NM_001271999.1:c.1683-11321G>A NM_014495.3:c.379C>T NM_033407.3:c.1683-11321G>A NM_001272002.1:c.1683-11321G>A NM_001272001.1:c.1683-11321G>A |
NP_055310.1:p.Leu127Phe |
113/8686 | 0.00656 | 4 | non_synonymous | Likely Benign |
| View | 1 | 63091086 | 63091086 | A > - | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1283-14del NM_001271999.1:c.1283-14del NM_033407.3:c.1283-14del NM_001272002.1:c.1283-14del NM_001272001.1:c.1283-14del |
126/8646 | 0.00734 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 63877667 | 63877667 | A > G | TRNAN-GUU ALG6 |
NM_013339.3:c.751A>G |
NP_037471.2:p.Thr251Ala |
54/10521 | 0.00266 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 64089432 | 64089432 | G > A | PGM1 TRNAN-GUU PGM1 PGM1 |
NM_001172818.1:c.300+1G>A NM_002633.2:c.247-5664G>A NM_001172819.1:c.-345-5664G>A |
185/8685 | 0.01071 | 4 | donor_site | Likely Benign | |
| View | 1 | 65830300 | 65830300 | T > G | TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 |
NM_001256864.1:c.194-18T>G NM_001256865.1:c.-17-18T>G NM_014787.3:c.23-18T>G |
66/8646 | 0.00463 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 65855298 | 65855298 | C > T | TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 |
NM_001256864.1:c.1456C>T NM_001256865.1:c.1246C>T NM_014787.3:c.1285C>T |
NP_001243793.1:p.Leu486Phe NP_001243794.1:p.Leu416Phe NP_055602.1:p.Leu429Phe |
58/8685 | 0.00334 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 78392589 | 78392589 | T > A | TRNAN-GUU NEXN NEXN |
NM_001172309.1:c.672+12T>A NM_144573.3:c.864+12T>A |
37/8646 | 0.00214 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 92762951 | 92762951 | T > C | TRNAN-GUU GLMN |
NM_053274.2:c.165+10A>G |
53/8685 | 0.00305 | 4 | five_prime_intronic | Likely Benign |