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fix: fix tests
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@dtroelofsprins
dtroelofsprins committed Jun 26, 2023
1 parent 8e74a2c commit b9c5b69
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Showing 9 changed files with 69 additions and 69 deletions.
2 changes: 1 addition & 1 deletion test_data/config/config_test.txt
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@@ -1,7 +1,7 @@
labs=lumc,amc,nki,vumc,umcg,umcu,radboud_mumc,erasmus
prefix=vkgl_
consensus=consensus
comments=consensus_comments
comments=comments
previous=1805,1810,1906,1910,1912,2003,2006,2009,2102
history=consensus_history
input=test_data/input/
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22 changes: 11 additions & 11 deletions test_data/input/vkgl_amc.tsv → test_data/input/vkgl_export_amc.tsv
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@@ -1,12 +1,12 @@
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
90e442bce73379ce78c66925bcbc66170ee0795e41547b68211b888d84cb441d 9 130588920 130588920 G A ENG c.392C>T NC_000009.11:g.130588920G>A NM_000118.3 p.P131L sub exonic 4 nonsynonymous b 2019-08-16 15:16:59
4e23414609932e3866073e615950564d759503917693524bb246ef2eef107edb 2 179469764 179469764 G A TTN c.54140C>T NC_000002.11:g.179469764G>A NM_001267550.1 p.A18047V sub exonic 280 nonsynonymous vus 2016-02-05 08:57:47
47637f7086848f3c60cac92edfd1e0acfb386ebd0b77987fd89134001cd8ddcb 2 21228649 21228649 A G APOB c.11091T>C NC_000002.11:g.21228649A>G NM_000384.2 p.G3697= sub exonic 26 synonymous lb 2019-10-10 13:08:14
fa3c692d2b1284d7eb08fb6c85d96a53a7a250c90f2b9f754b669a5dbbd24471 11 47354790 47354790 C T MYBPC3 c.3285G>A NC_000011.9:g.47354790C>T NM_000256.3 p.T1095= sub exonic 30 synonymous b 2019-08-16 15:16:14
181d471e29f7c56264b3a45f61134bd435365b56559c77e5ca7e217046b254f5 14 102484776 102484776 A T DYNC1H1 c.8178-12A>T NC_000014.8:g.102484776A>T NM_001376.4 sub intronic 41 lb 2018-07-30 09:04:25
432791067a9ab608ae38610b995f74641de687474a595ecaf254abaebf60c736 2 241679560 241679560 C T KIF1A c.3817-1G>A NC_000002.11:g.241679560C>T NM_001244008.1 sub intronic 37 vus 2018-07-30 09:04:33
b898cd600e4ed2c0936f8d8ae9bbed4abb7141a7aa628a5f84814ceda3c3d17a 1 12059085 12059085 G A MFN2 c.749G>A NC_000001.10:g.12059085G>A NM_014874.3 p.R250Q sub exonic 8 nonsynonymous vus 2019-09-02 14:24:27
af264edcb7be3c2dfe18157661df46e97239fc2260786aa57301bda72b8999a3 8 144996029 144996029 A G PLEC c.8371T>C NC_000008.10:g.144996029A>G NM_201380.3 p.S2791P sub exonic 32 nonsynonymous b 2018-07-30 09:03:52
2edeb6307d1533df44c0f7532a4f7f58612b7912580116ebb7c1991770146c52 6 150710490 150710490 G A IYD c.181G>A NC_000006.11:g.150710490G>A NM_001164694.2 p.A61T sub exonic 2 nonsynonymous lb 2019-08-16 15:16:59
b903a9d8554981617f7421b131aa0878b36168f3444fd36bc8f4ca8a8ebe1440 11 108117691 108117691 G A ATM c.902G>A NC_000011.9:g.108117691G>A NM_000051.3 p.G301D sub exonic 8 nonsynonymous vus 2019-09-02 14:00:34
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
90e442bce73379ce78c66925bcbc66170ee0795e41547b68211b888d84cb441d 9 130588920 130588920 G A ENG c.392C>T NC_000009.11:g.130588920G>A NM_000118.3 p.P131L sub exonic 4 nonsynonymous b 2019-08-16 15:16:59
4e23414609932e3866073e615950564d759503917693524bb246ef2eef107edb 2 179469764 179469764 G A TTN c.54140C>T NC_000002.11:g.179469764G>A NM_001267550.1 p.A18047V sub exonic 280 nonsynonymous vus 2016-02-05 08:57:47
47637f7086848f3c60cac92edfd1e0acfb386ebd0b77987fd89134001cd8ddcb 2 21228649 21228649 A G APOB c.11091T>C NC_000002.11:g.21228649A>G NM_000384.2 p.G3697= sub exonic 26 synonymous lb 2019-10-10 13:08:14
fa3c692d2b1284d7eb08fb6c85d96a53a7a250c90f2b9f754b669a5dbbd24471 11 47354790 47354790 C T MYBPC3 c.3285G>A NC_000011.9:g.47354790C>T NM_000256.3 p.T1095= sub exonic 30 synonymous b 2019-08-16 15:16:14
181d471e29f7c56264b3a45f61134bd435365b56559c77e5ca7e217046b254f5 14 102484776 102484776 A T DYNC1H1 c.8178-12A>T NC_000014.8:g.102484776A>T NM_001376.4 sub intronic 41 lb 2018-07-30 09:04:25
432791067a9ab608ae38610b995f74641de687474a595ecaf254abaebf60c736 2 241679560 241679560 C T KIF1A c.3817-1G>A NC_000002.11:g.241679560C>T NM_001244008.1 sub intronic 37 vus 2018-07-30 09:04:33
b898cd600e4ed2c0936f8d8ae9bbed4abb7141a7aa628a5f84814ceda3c3d17a 1 12059085 12059085 G A MFN2 c.749G>A NC_000001.10:g.12059085G>A NM_014874.3 p.R250Q sub exonic 8 nonsynonymous vus 2019-09-02 14:24:27
af264edcb7be3c2dfe18157661df46e97239fc2260786aa57301bda72b8999a3 8 144996029 144996029 A G PLEC c.8371T>C NC_000008.10:g.144996029A>G NM_201380.3 p.S2791P sub exonic 32 nonsynonymous b 2018-07-30 09:03:52
2edeb6307d1533df44c0f7532a4f7f58612b7912580116ebb7c1991770146c52 6 150710490 150710490 G A IYD c.181G>A NC_000006.11:g.150710490G>A NM_001164694.2 p.A61T sub exonic 2 nonsynonymous lb 2019-08-16 15:16:59
b903a9d8554981617f7421b131aa0878b36168f3444fd36bc8f4ca8a8ebe1440 11 108117691 108117691 G A ATM c.902G>A NC_000011.9:g.108117691G>A NM_000051.3 p.G301D sub exonic 8 nonsynonymous vus 2019-09-02 14:00:34
d7a6dd0190ee5d5dd59e97e83c93f15310564e59508a764d7cbcd53fc1d1c649 4 6303574 6303574 G A WFS1 c.2052G>A NC_000004.11:g.6303574G>A NM_006005.3 p.A684= sub exonic 8 synonymous b 2019-08-16 15:16:03
34 changes: 17 additions & 17 deletions test_data/input/vkgl_erasmus.tsv → test_data/input/vkgl_export_erasmus.tsv
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Original file line number Diff line number Diff line change
@@ -1,18 +1,18 @@
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
aa56e5e07663d27dfcb2faf7f793101cb271a3273ebb9521455d911db487724f 2 152528910 152528910 C G NEB c.4272G>C NC_000002.11:g.152528910C>G NM_001271208.1 p.T1424= sub exonic 37 synonymous lb 2019-07-09 14:32:56.000000
50602651557b1058fdd074593653411c5ee96a38f80995849ad99b85ba4f2f06 19 50919742 50919742 C T POLD1 c.2988C>T NC_000019.9:g.50919742C>T NM_001308632.1 p.F996= sub exonic 22 synonymous lb 2019-10-07 06:34:09.000000
6c8e7ea6e901db44f9e890a7b61c932e10e50665c0444887c077b33e95f201f8 8 31497846 31497846 G A NRG1 c.346G>A NC_000008.10:g.31497846G>A NM_013962.2 p.E116K sub exonic 1 nonsynonymous lb 2020-10-16 06:47:12.000000
4972969fc559da58102db27ce071a7e7f01ad1c0156c9bd66bbd39dd8ba78884 9 135781248 135781248 G A TSC1 c.1717C>T NC_000009.11:g.135781248G>A NM_000368.4 p.Q573* sub exonic 15 stopgain p 2015-09-21 12:09:43.000000
ee0171d5cd226ec793ecac3a26bb1bc9e1542f502f34d7d2da249989d5b01623 X 7243413 7243413 G A STS c.1130G>A NC_000023.10:g.7243413G>A NM_000351.5 p.R377Q sub exonic 8 nonsynonymous vus 2017-06-28 21:23:56.000000
3652a383313b7e44e6831d27df559a92a4797793f261c70711f2d965a9a35558 7 158472777 158472777 C T NCAPG2 c.1021G>A NC_000007.13:g.158472777C>T NM_001281933.1 p.A341T sub exonic 11 nonsynonymous vus 2020-07-27 11:54:27.000000
c17e1764fb9fb1716c3f47305532d47b9da79b44844506c254a68384c22552f7 17 59924505 59924505 A G BRIP1 c.584T>C NC_000017.10:g.59924505A>G NM_032043.2 p.L195P sub exonic 6 nonsynonymous lb 2017-05-03 07:33:04.000000
10ed975199135a38df2a96335b6d58d603ec479e470dd07f941ac0726ebf0ac8 2 172648088 172648088 C T SLC25A12 c.1458G>A NC_000002.11:g.172648088C>T NM_003705.4 p.A486= sub exonic 15 synonymous lb 2020-09-21 12:14:38.000000
5c49715a5125416e24c03fc5e8cda71237871ff16abc54f9e75226e52eb42b93 22 17578820 17578820 A G IL17RA c.297A>G NC_000022.10:g.17578820A>G NM_014339.6 p.T99= sub exonic 3 synonymous lb 2019-04-29 15:56:04.000000
10019698a15ad69946948ff66dd1ab532ee2048054057db1c241a0cc966c8cd8 17 79478019 79478019 G A ACTG1 c.918C>T NC_000017.10:g.79478019G>A NM_001199954.2 p.Y306= sub exonic 5 synonymous b 2019-07-24 10:18:12.000000
307bf9b6fecbf1561c6cc664bc60ba2b4e0cee68c37761379946e4445b9a87ed 19 50774730 50774730 C T MYH14 c.3098C>T NC_000019.9:g.50774730C>T NM_001145809.1 p.T1033M sub exonic 25 nonsynonymous vus 2018-05-14 13:12:17.000000
b903a9d8554981617f7421b131aa0878b36168f3444fd36bc8f4ca8a8ebe1440 11 108117691 108117691 G A ATM c.902G>A NC_000011.9:g.108117691G>A NM_001351834.1 p.G301D sub exonic 9 nonsynonymous vus 2019-11-05 11:35:11.000000
fcdf159aac7f9c8d29ccef733d4688e43e118f1ad8aad3047d501220c0649e91 2 48033890 48033890 C CT MSH6 c.4002-10dupT NC_000002.11:g.48033907_48033908insT NM_000179.2 dup intronic 10 b 2019-07-24 10:18:12.000000
6d4b77f1d06c9d9c58ebe46aab00e623f361459af0678e79b200516d03b8378d 13 32972380 32972380 G A BRCA2 c.9730G>A NC_000013.10:g.32972380G>A NM_000059.3 p.V3244I sub exonic 27 nonsynonymous b 2015-09-21 12:09:43.000000
cd951f2ffe4fefa6326be54c19434b6690fa8d8e5e5a696116cef5ded224ab70 17 41246092 41246092 A G BRCA1 c.1456T>C NC_000017.10:g.41246092A>G NM_007294.3 p.F486L sub exonic 10 nonsynonymous b 2015-09-21 12:09:43.000000
b898cd600e4ed2c0936f8d8ae9bbed4abb7141a7aa628a5f84814ceda3c3d17a 1 12059085 12059085 G A MFN2 c.749G>A NC_000001.10:g.12059085G>A NM_014874.3 p.R250Q sub exonic 8 nonsynonymous vus 2020-02-11 10:02:37.000000
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
aa56e5e07663d27dfcb2faf7f793101cb271a3273ebb9521455d911db487724f 2 152528910 152528910 C G NEB c.4272G>C NC_000002.11:g.152528910C>G NM_001271208.1 p.T1424= sub exonic 37 synonymous lb 2019-07-09 14:32:56.000000
50602651557b1058fdd074593653411c5ee96a38f80995849ad99b85ba4f2f06 19 50919742 50919742 C T POLD1 c.2988C>T NC_000019.9:g.50919742C>T NM_001308632.1 p.F996= sub exonic 22 synonymous lb 2019-10-07 06:34:09.000000
6c8e7ea6e901db44f9e890a7b61c932e10e50665c0444887c077b33e95f201f8 8 31497846 31497846 G A NRG1 c.346G>A NC_000008.10:g.31497846G>A NM_013962.2 p.E116K sub exonic 1 nonsynonymous lb 2020-10-16 06:47:12.000000
4972969fc559da58102db27ce071a7e7f01ad1c0156c9bd66bbd39dd8ba78884 9 135781248 135781248 G A TSC1 c.1717C>T NC_000009.11:g.135781248G>A NM_000368.4 p.Q573* sub exonic 15 stopgain p 2015-09-21 12:09:43.000000
ee0171d5cd226ec793ecac3a26bb1bc9e1542f502f34d7d2da249989d5b01623 X 7243413 7243413 G A STS c.1130G>A NC_000023.10:g.7243413G>A NM_000351.5 p.R377Q sub exonic 8 nonsynonymous vus 2017-06-28 21:23:56.000000
3652a383313b7e44e6831d27df559a92a4797793f261c70711f2d965a9a35558 7 158472777 158472777 C T NCAPG2 c.1021G>A NC_000007.13:g.158472777C>T NM_001281933.1 p.A341T sub exonic 11 nonsynonymous vus 2020-07-27 11:54:27.000000
c17e1764fb9fb1716c3f47305532d47b9da79b44844506c254a68384c22552f7 17 59924505 59924505 A G BRIP1 c.584T>C NC_000017.10:g.59924505A>G NM_032043.2 p.L195P sub exonic 6 nonsynonymous lb 2017-05-03 07:33:04.000000
10ed975199135a38df2a96335b6d58d603ec479e470dd07f941ac0726ebf0ac8 2 172648088 172648088 C T SLC25A12 c.1458G>A NC_000002.11:g.172648088C>T NM_003705.4 p.A486= sub exonic 15 synonymous lb 2020-09-21 12:14:38.000000
5c49715a5125416e24c03fc5e8cda71237871ff16abc54f9e75226e52eb42b93 22 17578820 17578820 A G IL17RA c.297A>G NC_000022.10:g.17578820A>G NM_014339.6 p.T99= sub exonic 3 synonymous lb 2019-04-29 15:56:04.000000
10019698a15ad69946948ff66dd1ab532ee2048054057db1c241a0cc966c8cd8 17 79478019 79478019 G A ACTG1 c.918C>T NC_000017.10:g.79478019G>A NM_001199954.2 p.Y306= sub exonic 5 synonymous b 2019-07-24 10:18:12.000000
307bf9b6fecbf1561c6cc664bc60ba2b4e0cee68c37761379946e4445b9a87ed 19 50774730 50774730 C T MYH14 c.3098C>T NC_000019.9:g.50774730C>T NM_001145809.1 p.T1033M sub exonic 25 nonsynonymous vus 2018-05-14 13:12:17.000000
b903a9d8554981617f7421b131aa0878b36168f3444fd36bc8f4ca8a8ebe1440 11 108117691 108117691 G A ATM c.902G>A NC_000011.9:g.108117691G>A NM_001351834.1 p.G301D sub exonic 9 nonsynonymous vus 2019-11-05 11:35:11.000000
fcdf159aac7f9c8d29ccef733d4688e43e118f1ad8aad3047d501220c0649e91 2 48033890 48033890 C CT MSH6 c.4002-10dupT NC_000002.11:g.48033907_48033908insT NM_000179.2 dup intronic 10 b 2019-07-24 10:18:12.000000
6d4b77f1d06c9d9c58ebe46aab00e623f361459af0678e79b200516d03b8378d 13 32972380 32972380 G A BRCA2 c.9730G>A NC_000013.10:g.32972380G>A NM_000059.3 p.V3244I sub exonic 27 nonsynonymous b 2015-09-21 12:09:43.000000
cd951f2ffe4fefa6326be54c19434b6690fa8d8e5e5a696116cef5ded224ab70 17 41246092 41246092 A G BRCA1 c.1456T>C NC_000017.10:g.41246092A>G NM_007294.3 p.F486L sub exonic 10 nonsynonymous b 2015-09-21 12:09:43.000000
b898cd600e4ed2c0936f8d8ae9bbed4abb7141a7aa628a5f84814ceda3c3d17a 1 12059085 12059085 G A MFN2 c.749G>A NC_000001.10:g.12059085G>A NM_014874.3 p.R250Q sub exonic 8 nonsynonymous vus 2020-02-11 10:02:37.000000
fa3c692d2b1284d7eb08fb6c85d96a53a7a250c90f2b9f754b669a5dbbd24471 11 47354790 47354790 C T MYBPC3 c.3285G>A NC_000011.9:g.47354790C>T NM_000256.3 p.T1095= sub exonic 30 synonymous lb 2017-06-28 21:24:09.000000
18 changes: 9 additions & 9 deletions test_data/input/vkgl_lumc.tsv → test_data/input/vkgl_export_lumc.tsv
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Original file line number Diff line number Diff line change
@@ -1,10 +1,10 @@
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
0c06ad0f6ecaed5a4a46c0f97e791429e3b557e54af64548f7155823fdc35ba6 12 42860181 42860181 A G PRICKLE1 c.590T>C, NM_001144882.1 NC_000012.11:g.42860181A>G NM_001144881.1 NM_001144881.1:p.(Ile197Thr), NM_001144882.1:p.(Ile197Thr), NP_001138355.1:p.(Ile197Thr), NP_694571.2:p.(Ile197Thr) sub vus
e17a08ad377ea888c3aa13a4af16083532f28c364c4bc470accdbb06fdca7371 6 84108085 84108085 C T ME1 c.362+1G>A NC_000006.11:g.84108085C>T NM_002395.4 NP_002386.1:p.? sub vus
9f75b6bdd0a235f4d9431d2e9f84dd6ea8de6225eed482ca30f3bae955dbb3b0 19 6534728 6534728 G C TNFSF9 c.416G>C NC_000019.9:g.6534728G>C NM_003811.3 NP_003802.1:p.(Gly139Ala) sub vus
7f1d1ab8a6ef8d95f32365ab358c95493117891459a2c2c165160597a3aa7cd8 19 41131856 41131856 C T LTBP4 c.4127C>T, NM_001042545.1 NC_000019.9:g.41131856C>T NM_001042544.1 NP_001036009.1:p.(Ala1376Val), NP_001036010.1:p.(Ala1309Val), NP_003564.2:p.(Ala1339Val) sub lb
d7a6dd0190ee5d5dd59e97e83c93f15310564e59508a764d7cbcd53fc1d1c649 4 6303574 6303574 G A WFS1 c.2052G>A, NM_006005.3 NC_000004.11:g.6303574G>A NM_001145853.1 NP_001139325.1:p.(=), NP_005996.2:p.(=) sub lb
6994ed16915b62e18d7adca37154c55f4f861172632a0abdf140eb15da993144 20 33891761 33891761 T TCGGA UQCC1 c.672_673insTCCG, NM_018244.4 NC_000020.10:g.33891762_33891765dup NM_001184977.1 NP_001171906.1:p.(Thr225SerfsTer41), NP_060714.3:p.(Thr293SerfsTer41), NP_955781.2:p.(Thr267SerfsTer41) dup vus
6185c9ddbb6e383114446cf7218036ae7cefe6c7f815fdca39e6f2f2088a4da6 1 225211470 225211470 C T DNAH14 c.1261C>T, NM_001373.1 NC_000001.10:g.225211470C>T NM_001145154.1 NM_001145154.1:p.?, NP_001364.1:p.? sub vus
d905c42f0e13d332c13aa7f4fbae54eb7202b46d3b4581c952ca3e188e80f929 X 78216360 78216360 C G P2RY10 c.343C>G, NM_198333.1 NC_000023.10:g.78216360C>G NM_014499.2 NP_055314.1:p.(Leu115Val), NM_198333.1:p.(Leu115Val) sub vus
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
0c06ad0f6ecaed5a4a46c0f97e791429e3b557e54af64548f7155823fdc35ba6 12 42860181 42860181 A G PRICKLE1 c.590T>C, NM_001144882.1 NC_000012.11:g.42860181A>G NM_001144881.1 NM_001144881.1:p.(Ile197Thr), NM_001144882.1:p.(Ile197Thr), NP_001138355.1:p.(Ile197Thr), NP_694571.2:p.(Ile197Thr) sub vus
e17a08ad377ea888c3aa13a4af16083532f28c364c4bc470accdbb06fdca7371 6 84108085 84108085 C T ME1 c.362+1G>A NC_000006.11:g.84108085C>T NM_002395.4 NP_002386.1:p.? sub vus
9f75b6bdd0a235f4d9431d2e9f84dd6ea8de6225eed482ca30f3bae955dbb3b0 19 6534728 6534728 G C TNFSF9 c.416G>C NC_000019.9:g.6534728G>C NM_003811.3 NP_003802.1:p.(Gly139Ala) sub vus
7f1d1ab8a6ef8d95f32365ab358c95493117891459a2c2c165160597a3aa7cd8 19 41131856 41131856 C T LTBP4 c.4127C>T, NM_001042545.1 NC_000019.9:g.41131856C>T NM_001042544.1 NP_001036009.1:p.(Ala1376Val), NP_001036010.1:p.(Ala1309Val), NP_003564.2:p.(Ala1339Val) sub lb
d7a6dd0190ee5d5dd59e97e83c93f15310564e59508a764d7cbcd53fc1d1c649 4 6303574 6303574 G A WFS1 c.2052G>A, NM_006005.3 NC_000004.11:g.6303574G>A NM_001145853.1 NP_001139325.1:p.(=), NP_005996.2:p.(=) sub lb
6994ed16915b62e18d7adca37154c55f4f861172632a0abdf140eb15da993144 20 33891761 33891761 T TCGGA UQCC1 c.672_673insTCCG, NM_018244.4 NC_000020.10:g.33891762_33891765dup NM_001184977.1 NP_001171906.1:p.(Thr225SerfsTer41), NP_060714.3:p.(Thr293SerfsTer41), NP_955781.2:p.(Thr267SerfsTer41) dup vus
6185c9ddbb6e383114446cf7218036ae7cefe6c7f815fdca39e6f2f2088a4da6 1 225211470 225211470 C T DNAH14 c.1261C>T, NM_001373.1 NC_000001.10:g.225211470C>T NM_001145154.1 NM_001145154.1:p.?, NP_001364.1:p.? sub vus
d905c42f0e13d332c13aa7f4fbae54eb7202b46d3b4581c952ca3e188e80f929 X 78216360 78216360 C G P2RY10 c.343C>G, NM_198333.1 NC_000023.10:g.78216360C>G NM_014499.2 NP_055314.1:p.(Leu115Val), NM_198333.1:p.(Leu115Val) sub vus
a43749986c27b7cdae0141c20757c884f31226e1ade8f4b0209032beee05fa94 21 33691527 33691527 C T URB1 c.5792G>A NC_000021.8:g.33691527C>T NM_014825.2 NP_055640.2:p.(Arg1931Lys) sub lb
8 changes: 4 additions & 4 deletions test_data/input/vkgl_nki.tsv → test_data/input/vkgl_export_nki.tsv
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Original file line number Diff line number Diff line change
@@ -1,5 +1,5 @@
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
cd951f2ffe4fefa6326be54c19434b6690fa8d8e5e5a696116cef5ded224ab70 17 41246092 41246092 A G BRCA1 c.1456T>C NC_000017.10:g.41246092A>G NM_007294.3 p.F486L sub exonic 10 nonsynonymous b 2016-08-05 13:32:08
6d4b77f1d06c9d9c58ebe46aab00e623f361459af0678e79b200516d03b8378d 13 32972380 32972380 G A BRCA2 c.9730G>A NC_000013.10:g.32972380G>A NM_000059.3 p.V3244I sub exonic 27 nonsynonymous b 2016-10-07 12:10:06
fcdf159aac7f9c8d29ccef733d4688e43e118f1ad8aad3047d501220c0649e91 2 48033890 48033890 C CT MSH6 c.4002-28_4002-27insT NC_000002.11:g.48033890_48033891insT NM_000179.2 dup intronic 10 b 2020-11-05 14:53:17
id chromosome start stop ref alt gene c_dna hgvs_g hgvs_c transcript protein type location exon effect classification comments is_legacy lab_upload_date
cd951f2ffe4fefa6326be54c19434b6690fa8d8e5e5a696116cef5ded224ab70 17 41246092 41246092 A G BRCA1 c.1456T>C NC_000017.10:g.41246092A>G NM_007294.3 p.F486L sub exonic 10 nonsynonymous b 2016-08-05 13:32:08
6d4b77f1d06c9d9c58ebe46aab00e623f361459af0678e79b200516d03b8378d 13 32972380 32972380 G A BRCA2 c.9730G>A NC_000013.10:g.32972380G>A NM_000059.3 p.V3244I sub exonic 27 nonsynonymous b 2016-10-07 12:10:06
fcdf159aac7f9c8d29ccef733d4688e43e118f1ad8aad3047d501220c0649e91 2 48033890 48033890 C CT MSH6 c.4002-28_4002-27insT NC_000002.11:g.48033890_48033891insT NM_000179.2 dup intronic 10 b 2020-11-05 14:53:17
b903a9d8554981617f7421b131aa0878b36168f3444fd36bc8f4ca8a8ebe1440 11 108117691 108117691 G A ATM c.902G>A NC_000011.9:g.108117691G>A NM_000051.3 p.G301D sub exonic 8 nonsynonymous vus 2019-05-27 13:25:29
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