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Gene

Transcript

Chr

Allele

DNA change (genomic)

DB-ID

dbSNP ID

PhyloP conservation

Owner

Effect

DNA change (cDNA)

RNA change

Protein

GVS function
NADK NM_001198995.1 1 Unknown g.1695074_1695075del chr1_000001 rs201827170 -0.592 Ivo F.A.C. Fokkema ?/? c.-5105_-5104del r.(=) p.(=) utr-5
NOL9 NM_024654.4 1 Unknown g.6618114del chr1_000002 rs147978546 0.424 Ivo F.A.C. Fokkema ?/? c.-3552del r.(=) p.(=) utr-5
RERE NM_012102.3 1 Unknown g.8761376_8761383del chr1_000003 rs34597365 -0.465 Ivo F.A.C. Fokkema ?/? c.-144-44883_-144-44876del r.(=) p.(=) intron
RERE NM_001042681.1 1 Unknown g.8761376_8761383del chr1_000003 rs34597365 -0.465 Ivo F.A.C. Fokkema ?/? c.-144-44883_-144-44876del r.(=) p.(=) intron
KIF1B NM_015074.3 1 Unknown g.10436923_10436926del chr1_000004 rs200617985 0.075 Ivo F.A.C. Fokkema ?/? c.*278_*281del r.(=) p.(=) utr-3
E2F2 NM_004091.3 1 Unknown g.23829729_23829733del chr1_000005 rs76123345 -0.388 Ivo F.A.C. Fokkema ?/? c.*6639_*6643del r.(=) p.(=) utr-3
SEPN1 NM_020451.2 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.*3708_*3713del r.(=) p.(=) utr-3
SEPN1 NM_206926.1 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.*3708_*3713del r.(=) p.(=) utr-3
MTFR1L NM_001099625.1 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.-690_-685del r.(=) p.(=) utr-5
MTFR1L NM_001099627.1 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.-690_-685del r.(=) p.(=) utr-5
MTFR1L NM_019557.5 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.-1075_-1070del r.(=) p.(=) utr-5
MTFR1L NM_001099626.1 1 Unknown g.26145917_26145922del chr1_000006 rs71514262 -3.267 Ivo F.A.C. Fokkema ?/? c.-1664_-1659del r.(=) p.(=) utr-5
UBXN11 NM_145345.2 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.1371_1376del r.(?) p.(Gly459_Pro460del) coding
CEP85 NM_022778.2 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.*5094_*5099del r.(=) p.(=) utr-3
UBXN11 NM_001077262.1 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.1110_1115del r.(?) p.(Gly372_Pro373del) coding
UBXN11 NM_183008.2 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.1470_1475del r.(?) p.(Gly492_Pro493del) coding
CEP85 NM_001281518.1 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.*5094_*5099del r.(=) p.(=) utr-3
SH3BGRL3 NM_031286.3 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.*1264_*1269del r.(=) p.(=) utr-3
CEP85 NM_001281517.1 1 Unknown g.26608878_26608883del chr1_000007 rs1134582 0.263 Ivo F.A.C. Fokkema ?/? c.*5094_*5099del r.(=) p.(=) utr-3
RPA2 NM_002946.3 1 Unknown g.28242789_28242792del chr1_000008 - 0.142 Ivo F.A.C. Fokkema ?/? c.-1838_-1835del r.(=) p.(=) utr-5
RPA2 NM_002946.3 1 Unknown g.28243576_28243580del chr1_000009 rs201530922 0.178 Ivo F.A.C. Fokkema ?/? c.-2626_-2622del r.(=) p.(=) utr-5
EPB41 NM_203343.2 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-8+48258del r.(=) p.(=) intron
EPB41 NM_001166006.1 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-8+20700del r.(=) p.(=) intron
EPB41 NM_001166005.1 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-8+48258del r.(=) p.(=) intron
EPB41 NM_001166007.1 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-618+48258del r.(=) p.(=) intron
EPB41 NM_004437.3 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-698+48258del r.(=) p.(=) intron
EPB41 NM_203342.2 1 Unknown g.29261980del chr1_000010 rs138822751 -1.527 Ivo F.A.C. Fokkema ?/? c.-715+48258del r.(=) p.(=) intron
HCRTR1 NM_001525.2 1 Unknown g.32081717_32081720del chr1_000011 rs72009073 -0.241 Ivo F.A.C. Fokkema ?/? c.-1969_-1966del r.(=) p.(=) utr-5
RBBP4 NM_005610.2 1 Unknown g.33115231_33115232del chr1_000012 rs72263728 -0.559 Ivo F.A.C. Fokkema ?/? c.-1677_-1676del r.(=) p.(=) utr-5
RBBP4 NM_001135255.1 1 Unknown g.33115231_33115232del chr1_000012 rs72263728 -0.559 Ivo F.A.C. Fokkema ?/? c.-1677_-1676del r.(=) p.(=) utr-5
RBBP4 NM_001135256.1 1 Unknown g.33115231_33115232del chr1_000012 rs72263728 -0.559 Ivo F.A.C. Fokkema ?/? c.-1892_-1891del r.(=) p.(=) utr-5
SYNC NM_030786.2 1 Unknown g.33142233_33142236del chr1_000013 rs9331238 -0.499 Ivo F.A.C. Fokkema ?/? c.*5215_*5218del r.(=) p.(=) utr-3
SYNC NM_001161708.1 1 Unknown g.33142233_33142236del chr1_000013 rs9331238 -0.499 Ivo F.A.C. Fokkema ?/? c.*5153_*5156del r.(=) p.(=) utr-3
CSMD2 NM_052896.3 1 Unknown g.34635218_34635237del chr1_000014 rs66660987 -0.072 Ivo F.A.C. Fokkema ?/? c.-3823_-3804del r.(=) p.(=) utr-5
C1orf94 NM_032884.3 1 Unknown g.34635218_34635237del chr1_000014 rs66660987 -0.072 Ivo F.A.C. Fokkema ?/? c.-251+2446_-251+2465del r.(=) p.(=) intron
NFYC NM_001142590.1 1 Unknown g.41194264_41194268del chr1_000015 - 0.178 Ivo F.A.C. Fokkema ?/? c.-9+4800_-9+4804del r.(=) p.(=) intron
NFYC NM_001142589.1 1 Unknown g.41194264_41194268del chr1_000015 - 0.178 Ivo F.A.C. Fokkema ?/? c.-8-10244_-8-10240del r.(=) p.(=) intron
NFYC NM_001142587.1 1 Unknown g.41194264_41194268del chr1_000015 - 0.178 Ivo F.A.C. Fokkema ?/? c.-8-10244_-8-10240del r.(=) p.(=) intron
NFYC NM_001142588.1 1 Unknown g.41194264_41194268del chr1_000015 - 0.178 Ivo F.A.C. Fokkema ?/? c.-8-10244_-8-10240del r.(=) p.(=) intron
NFYC NM_014223.4 1 Unknown g.41194264_41194268del chr1_000015 - 0.178 Ivo F.A.C. Fokkema ?/? c.-8-10244_-8-10240del r.(=) p.(=) intron
FAM151A NM_176782.2 1 Unknown g.55091639_55091643del chr1_000016 rs139503295 0.187 Ivo F.A.C. Fokkema ?/? c.-2575_-2571del r.(=) p.(=) utr-5
TMEM61 NM_182532.1 1 Unknown g.55462512_55462513del chr1_000017 rs67765618 0.152 Ivo F.A.C. Fokkema ?/? c.*4736_*4737del r.(=) p.(=) utr-3
BSND NM_057176.2 1 Unknown g.55462512_55462513del chr1_000017 rs67765618 0.152 Ivo F.A.C. Fokkema ?/? c.-2348_-2347del r.(=) p.(=) utr-5
DAB1 NM_021080.3 1 Unknown g.58101460_58101464del chr1_000018 rs199995542 -0.576 Ivo F.A.C. Fokkema ?/? c.-137+13800_-137+13804del r.(=) p.(=) intron
ATG4C NM_178221.2 1 Unknown g.63267661_63267665del chr1_000019 rs368835658 -0.536 Ivo F.A.C. Fokkema ?/? c.-68-1729_-68-1725del r.(=) p.(=) intron
ATG4C NM_032852.3 1 Unknown g.63267661_63267665del chr1_000019 rs368835658 -0.536 Ivo F.A.C. Fokkema ?/? c.-68-1729_-68-1725del r.(=) p.(=) intron
MIER1 NM_001146112.1 1 Unknown g.67397720_67397725del chr1_000020 - 0.341 Ivo F.A.C. Fokkema ?/? c.-73+3074_-73+3079del r.(=) p.(=) intron
MIER1 NM_001146113.1 1 Unknown g.67397720_67397725del chr1_000020 - 0.341 Ivo F.A.C. Fokkema ?/? c.-35+5795_-35+5800del r.(=) p.(=) intron
NEXN NM_144573.3 1 Unknown g.78353693_78353694insT chr1_000021 rs71075775 -0.644 Ivo F.A.C. Fokkema ?/? c.-804_-803insT r.(=) p.(=) utr-5
NEXN NM_001172309.1 1 Unknown g.78353693_78353694insT chr1_000021 rs71075775 -0.644 Ivo F.A.C. Fokkema ?/? c.-804_-803insT r.(=) p.(=) utr-5
MCOLN3 NM_001253693.1 1 Unknown g.85515521_85515524del chr1_000022 rs139314796 0.178 Ivo F.A.C. Fokkema ?/? c.-1448_-1445del r.(=) p.(=) utr-5
MCOLN3 NM_018298.10 1 Unknown g.85515521_85515524del chr1_000022 rs139314796 0.178 Ivo F.A.C. Fokkema ?/? c.-1448_-1445del r.(=) p.(=) utr-5
CDC7 NM_003503.3 1 Unknown g.91963280_91963281del chr1_000023 rs141416720 0.584 Ivo F.A.C. Fokkema ?/? c.-3289_-3288del r.(=) p.(=) utr-5
CDC7 NM_001134419.1 1 Unknown g.91963280_91963281del chr1_000023 rs141416720 0.584 Ivo F.A.C. Fokkema ?/? c.-3255_-3254del r.(=) p.(=) utr-5
CDC7 NM_001134420.1 1 Unknown g.91963280_91963281del chr1_000023 rs141416720 0.584 Ivo F.A.C. Fokkema ?/? c.-3644_-3643del r.(=) p.(=) utr-5
DNTTIP2 NM_014597.4 1 Unknown g.94349403del chr1_000024 rs200161505 -0.527 Ivo F.A.C. Fokkema ?/? c.-4699del r.(=) p.(=) utr-5
GCLM NM_002061.2 1 Unknown g.94349403del chr1_000024 rs200161505 -0.527 Ivo F.A.C. Fokkema ?/? c.*5143del r.(=) p.(=) utr-3
RAP1A NM_002884.2 1 Unknown g.112189057del chr1_000025 rs58124326 0.041 Ivo F.A.C. Fokkema ?/? c.-28+26501del r.(=) p.(=) intron
RAP1A NM_001010935.1 1 Unknown g.112189057del chr1_000025 rs58124326 0.041 Ivo F.A.C. Fokkema ?/? c.-28+18872del r.(=) p.(=) intron
FAM46C NM_017709.3 1 Unknown g.118164970_118164975del chr1_000026 - 1.121 Ivo F.A.C. Fokkema ?/? c.-27-494_-27-489del r.(=) p.(=) intron
NBPF9 NM_001037675.2 1 Unknown g.144833046del chr1_000027 rs2312475 0.169 Ivo F.A.C. Fokkema ?/? c.*4262del r.(=) p.(=) utr-3
NBPF9 NM_001277444.1 1 Unknown g.144833046del chr1_000027 rs2312475 0.169 Ivo F.A.C. Fokkema ?/? c.*4262del r.(=) p.(=) utr-3
NBPF10 NM_001039703.4 1 Unknown g.145328401_145328406del chr1_000028 rs371101751 0.415 Ivo F.A.C. Fokkema ?/? c.4249_4254del r.(?) p.(Asp1493_Glu1494del) coding
ACP6 NM_016361.3 1 Unknown g.147143548del chr1_000029 rs68021384 -1.156 Ivo F.A.C. Fokkema ?/? c.-1378del r.(=) p.(=) utr-5
ANP32E NM_030920.3 1 Unknown g.150199040_150199045del chr1_000030 rs68136184 -1.466 Ivo F.A.C. Fokkema ?/? c.576_581del r.(?) p.(Glu193_Glu194del) coding
ANP32E NM_001136479.1 1 Unknown g.150199040_150199045del chr1_000030 rs68136184 -1.466 Ivo F.A.C. Fokkema ?/? c.432_437del r.(?) p.(Glu145_Glu146del) coding
ANP32E NM_001136478.2 1 Unknown g.150199040_150199045del chr1_000030 rs68136184 -1.466 Ivo F.A.C. Fokkema ?/? c.453_458del r.(?) p.(Glu152_Glu153del) coding
ANP32E NM_001280559.1 1 Unknown g.150199040_150199045del chr1_000030 rs68136184 -1.466 Ivo F.A.C. Fokkema ?/? c.576_581del r.(?) p.(Glu193_Glu194del) coding
ANP32E NM_001280560.1 1 Unknown g.150199040_150199045del chr1_000030 rs68136184 -1.466 Ivo F.A.C. Fokkema ?/? c.410_415del r.(?) p.(Lys137_Arg138del) coding
TCHH NM_007113.2 1 Unknown g.152084697_152084702del chr1_000031 - -0.325 Ivo F.A.C. Fokkema ?/? c.991_996del r.(?) p.(Gln331_Glu332del) coding
SPRR4 NM_173080.1 1 Unknown g.152944089_152944090del chr1_000032 rs71962623 0.274 Ivo F.A.C. Fokkema ?/? c.-20-258_-20-257del r.(=) p.(=) intron
LY9 NM_001033667.2 1 Unknown g.160775583_160775584insCT chr1_000033 rs147879300 0.187 Ivo F.A.C. Fokkema ?/? c.*3876_*3877insCT r.(=) p.(=) utr-3
TOMM40L NM_032174.5 1 Unknown g.161203670_161203679del chr1_000034 rs11265569 0.089 Ivo F.A.C. Fokkema ?/? c.*4785_*4794del r.(=) p.(=) utr-3
SH2D1B NM_053282.4 1 Unknown g.162386108_162386109del chr1_000035 rs138399134 0.461 Ivo F.A.C. Fokkema ?/? c.-4303_-4302del r.(=) p.(=) utr-5
RXRG NM_001256570.1 1 Unknown g.165403514_165403517del chr1_000036 rs72004048 2.215 Ivo F.A.C. Fokkema ?/? c.-378-5314_-378-5311del r.(=) p.(=) intron
PAPPA2 NM_020318.2 1 Unknown g.176671913_176671920del chr1_000037 rs67373891 -0.865 Ivo F.A.C. Fokkema ?/? c.3365+42_3365+49del r.(=) p.(=) intron
FAM163A NM_173509.2 1 Unknown g.179784240_179784249del chr1_000038 rs68161929 0.089 Ivo F.A.C. Fokkema ?/? c.*916_*925del r.(=) p.(=) utr-3
STX6 NM_005819.4 1 Unknown g.180992281_180992282insT chr1_000039 - -0.198 Ivo F.A.C. Fokkema ?/? c.-473_-472insA r.(=) p.(=) utr-5
RGL1 NM_015149.3 1 Unknown g.183638075del chr1_000040 rs201157503 0.167 Ivo F.A.C. Fokkema ?/? c.-33+32439del r.(=) p.(=) intron
RGS13 NM_002927.4 1 Unknown g.192610375del chr1_000041 rs28655753 -2.863 Ivo F.A.C. Fokkema ?/? c.-5+3042del r.(=) p.(=) intron
RGS13 NM_144766.2 1 Unknown g.192610375del chr1_000041 rs28655753 -2.863 Ivo F.A.C. Fokkema ?/? c.-4-3086del r.(=) p.(=) intron
TROVE2 NM_001173524.1 1 Unknown g.193058932_193058936del chr1_000042 rs200281630 0.516 Ivo F.A.C. Fokkema ?/? c.*5071_*5075del r.(=) p.(=) utr-3
TROVE2 NM_004600.5 1 Unknown g.193058932_193058936del chr1_000042 rs200281630 0.516 Ivo F.A.C. Fokkema ?/? c.*5071_*5075del r.(=) p.(=) utr-3
PPFIA4 NM_015053.1 1 Unknown g.203047903_203047910del chr1_000043 - 0.005 Ivo F.A.C. Fokkema ?/? c.*2385_*2392del r.(=) p.(=) utr-3
MYOG NM_002479.5 1 Unknown g.203047903_203047910del chr1_000043 - 0.005 Ivo F.A.C. Fokkema ?/? c.*5128_*5135del r.(=) p.(=) utr-3
ZC3H11A NM_014827.4 1 Unknown g.203771852del chr1_000044 rs76344483 0.331 Ivo F.A.C. Fokkema ?/? c.-205-233del r.(=) p.(=) intron
ZBED6 NM_001174108.1 1 Unknown g.203771852del chr1_000044 rs76344483 0.331 Ivo F.A.C. Fokkema ?/? c.*2262del r.(=) p.(=) utr-3
AVPR1B NM_000707.3 1 Unknown g.206219341_206219346del chr1_000045 - -0.075 Ivo F.A.C. Fokkema ?/? c.-5100_-5095del r.(=) p.(=) utr-5
RASSF5 NM_182663.2 1 Unknown g.206766848_206766857del chr1_000046 rs72244512 0 Ivo F.A.C. Fokkema ?/? c.*6538_*6547del r.(=) p.(=) utr-3
RASSF5 NM_182664.2 1 Unknown g.206766848_206766857del chr1_000046 rs72244512 0 Ivo F.A.C. Fokkema ?/? c.*6668_*6677del r.(=) p.(=) utr-3
RASSF5 NM_182665.2 1 Unknown g.206766848_206766857del chr1_000046 rs72244512 0 Ivo F.A.C. Fokkema ?/? c.*6538_*6547del r.(=) p.(=) utr-3
IL24 NM_001185156.1 1 Unknown g.207080448del chr1_000047 - 0 Ivo F.A.C. Fokkema ?/? c.*4044del r.(=) p.(=) utr-3
IL24 NM_001185157.1 1 Unknown g.207080448del chr1_000047 - 0 Ivo F.A.C. Fokkema ?/? c.*4044del r.(=) p.(=) utr-3
IL24 NM_006850.3 1 Unknown g.207080448del chr1_000047 - 0 Ivo F.A.C. Fokkema ?/? c.*4044del r.(=) p.(=) utr-3
IL24 NM_001185158.1 1 Unknown g.207080448del chr1_000047 - 0 Ivo F.A.C. Fokkema ?/? c.*4118del r.(=) p.(=) utr-3
C1orf227 NM_001024601.2 1 Unknown g.213021661_213021666del chr1_000048 rs201488121 -0.046 Ivo F.A.C. Fokkema ?/? c.-783_-778del r.(=) p.(=) utr-5
PROX1 NM_002763.4 1 Unknown g.214164036_214164045del chr1_000049 - 1.71 Ivo F.A.C. Fokkema ?/? c.-68+1972_-68+1981del r.(=) p.(=) intron
PROX1 NM_001270616.1 1 Unknown g.214164036_214164045del chr1_000049 - 1.71 Ivo F.A.C. Fokkema ?/? c.-68+2210_-68+2219del r.(=) p.(=) intron
ESRRG NM_001243505.1 1 Unknown g.216832262_216832266del chr1_000050 rs149329162 -3.387 Ivo F.A.C. Fokkema ?/? c.-164-90826_-164-90822del r.(=) p.(=) intron
ESRRG NM_001243506.1 1 Unknown g.216832262_216832266del chr1_000050 rs149329162 -3.387 Ivo F.A.C. Fokkema ?/? c.-83-7835_-83-7831del r.(=) p.(=) intron
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