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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GDAP1_chr8_74345403_74371876 | 74356659 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00621.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0015a0001c0001t0020others(3): Show | a0001c0001t0003g0015a0001c0001t0015g0099a0001c0001t0020g0015others(13): Show | 44 | 430 | 0.1023 | 8 | c.311 others(25): Show |
GDAP1 | ENSG00000104381.14 | transcript | ENST00000220822.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GDAP1_chr8_74345403_74371876 | 74356690 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0046a0001c0002t0003g0135 | 3 | 430 | 0.0070 | 8 | c.311 others(25): Show |
GDAP1 | ENSG00000104381.14 | transcript | ENST00000220822.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GDAP1_chr8_74345403_74371876 | 74362784 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01975.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0006a0001c0001t0002g0013a0001c0001t0002g0073others(4): Show | 19 | 430 | 0.0442 | 8 | c.580 others(23): Show |
GDAP1 | ENSG00000104381.14 | transcript | ENST00000220822.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GDAP2_chr1_117858485_117934621 | 117884813 | C | CATGTGTG others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02451.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0003g0083a0001c0001t0004g0031a0001c0001t0004g0096others(2): Show | 6 | 364 | 0.0165 | 8 | c.110 others(27): Show |
GDAP2 | ENSG00000196505.11 | transcript | ENST00000369443.10 | protein_coding | 10/13 | chr1 | TogoVar | ||||||
GDAP2_chr1_117858485_117934621 | 117884813 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02273.hp1 HG03491.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0021a0001c0001t0002g0193a0001c0001t0002g0227others(3): Show | 9 | 364 | 0.0247 | 8 | c.110 others(27): Show |
GDAP2 | ENSG00000196505.11 | transcript | ENST00000369443.10 | protein_coding | 10/13 | chr1 | TogoVar | ||||||
GDE1_chr16_19496693_19527098 | 19507141 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18964.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0171a0001c0001t0001g0181a0001c0001t0001g0190others(1): Show | 4 | 398 | 0.0101 | 8 | c.636 others(23): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
GDE1_chr16_19496693_19527098 | 19512927 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01346.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0097a0001c0001t0001g0171others(12): Show | 20 | 398 | 0.0503 | 8 | c.438 others(25): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
GDE1_chr16_19496693_19527098 | 19519449 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02040.hp2 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0018a0001c0001t0002g0024a0001c0001t0002g0050others(3): Show | 10 | 398 | 0.0251 | 8 | c.261 others(25): Show |
GDE1 | ENSG00000006007.12 | transcript | ENST00000353258.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
GDF10_chr10_47295197_47318577 | 47296866 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01099.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0044others(12): Show | 28 | 398 | 0.0704 | 8 | c.-37 others(19): Show |
GDF10 | ENSG00000266524.3 | transcript | ENST00000580279.2 | protein_coding | 3330 | chr10 | TogoVar | ||||||
GDF1_chr19_18863545_18901158 | 18876536 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01169.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0043a0001c0001t0001g0152a0001c0001t0002g0305others(16): Show | 21 | 380 | 0.0553 | 8 | c.-31 others(27): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 6/7 | chr19 | TogoVar | ||||||
GDF1_chr19_18863545_18901158 | 18881767 | C | CTCTGCTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(164): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(143): Show | 167 | 380 | 0.4395 | 8 | c.-73 others(27): Show |
GDF1 | ENSG00000130283.9 | transcript | ENST00000247005.8 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GDF3_chr12_7684784_7700775 | 7694401 | C | CTAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00673.hp1 others(61): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0009 | a0001c0001t0001a0003c0003t0001a0004c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0016others(33): Show | 64 | 468 | 0.1368 | 8 | c.268 others(25): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GDF3_chr12_7684784_7700775 | 7698933 | T | TAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG03195.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 4 | 468 | 0.0086 | 8 | c.-32 others(19): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3159 | chr12 | TogoVar | ||||||
GDF3_chr12_7684784_7700775 | 7699407 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 HG02717.hp1 HG02809.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(7): Show | 10 | 468 | 0.0214 | 8 | c.-36 others(19): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3633 | chr12 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35438358 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(52): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(16): Show | 55 | 360 | 0.1528 | 8 | c.-43 others(17): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 131 | chr20 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35438824 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01361.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0023others(12): Show | 29 | 360 | 0.0806 | 8 | c.-90 others(17): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 597 | chr20 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96144242 | A | AAGAGAGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 NA19240.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0014 | 3 | 368 | 0.0082 | 8 | c.*32 others(17): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 320 | chr8 | TogoVar | |||||
GDF6_chr8_96137333_96165806 | 96144244 | T | TAGAGAGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013a0001c0001t0061others(2): Show | a0001c0001t0010g0012a0001c0001t0010g0054a0001c0001t0010g0161others(14): Show | 21 | 368 | 0.0571 | 8 | c.*31 others(17): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 318 | chr8 | TogoVar | |||||
GDF6_chr8_96137333_96165806 | 96144289 | A | AGAGAGAG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0080a0001c0001t0105 | a0001c0001t0025g0013a0001c0001t0080g0205a0001c0001t0105g0160 | 6 | 368 | 0.0163 | 8 | c.*27 others(17): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 2/2 | 273 | chr8 | TogoVar | |||||
GDF6_chr8_96137333_96165806 | 96164180 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0008g0132a0001c0001t0008g0134a0001c0001t0011g0147others(6): Show | 9 | 368 | 0.0245 | 8 | c.-34 others(19): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3375 | chr8 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTCTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 NA18966.hp2 NA21309.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0083others(1): Show | a0001c0001t0008g0093a0001c0001t0013g0225a0001c0001t0083g0088others(1): Show | 4 | 368 | 0.0109 | 8 | c.-34 others(19): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0030others(2): Show | a0001c0001t0007g0009a0001c0001t0013g0235a0001c0001t0030g0097others(2): Show | 5 | 368 | 0.0136 | 8 | c.-34 others(19): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | ||||||
GDF6_chr8_96137333_96165806 | 96165633 | T | TCTGTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017a0001c0001t0011g0122 | 4 | 368 | 0.0109 | 8 | c.-49 others(19): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 4828 | chr8 | TogoVar | ||||||
GDF9_chr5_132856185_132871469 | 132856855 | T | TCTATCTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0013others(17): Show | a0001c0001t0007g0007a0001c0001t0009g0011a0001c0001t0013g0025others(24): Show | 140 | 464 | 0.3017 | 8 | c.*47 others(19): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 4329 | chr5 | TogoVar | ||||||
GDI2_chr10_5760223_5818434 | 5808726 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0014a0001c0001t0003g0312a0001c0001t0003g0313others(46): Show | 51 | 398 | 0.1281 | 8 | c.45+ others(23): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
GDNF_chr5_37807677_37845041 | 37817604 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0199a0001c0001t0003g0004a0001c0001t0003g0043others(7): Show | 19 | 430 | 0.0442 | 8 | c.152 others(25): Show |
GDNF | ENSG00000168621.15 | transcript | ENST00000326524.7 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59221445 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0029a0001c0001t0031 | a0001c0001t0026g0257a0001c0001t0029g0258a0001c0001t0031g0164 | 3 | 312 | 0.0096 | 8 | c.142 others(23): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59255784 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG00741.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0035a0001c0001t0002g0165a0001c0001t0002g0166others(52): Show | 55 | 312 | 0.1763 | 8 | c.368 others(25): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59255796 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0023 | a0001c0001t0008g0066a0001c0001t0008g0069a0001c0001t0008g0070others(6): Show | 9 | 312 | 0.0289 | 8 | c.368 others(25): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | chr17 | TogoVar | ||||||
GDPD1_chr17_59215511_59280970 | 59255800 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(153): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0034a0001c0001t0002g0035a0001c0001t0002g0165others(153): Show | 156 | 312 | 0.5000 | 8 | c.368 others(25): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59261913 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0003g0271a0001c0001t0003g0272a0001c0001t0003g0297others(39): Show | 42 | 312 | 0.1346 | 8 | c.576 others(25): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD1_chr17_59215511_59280970 | 59263483 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG06807.hp2 NA18949.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0085a0001c0001t0003g0291a0001c0001t0007g0242others(3): Show | 6 | 312 | 0.0192 | 8 | c.577 others(25): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GDPD4_chr11_77211558_77306686 | 77242935 | T | TATCTATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0082a0001c0001t0001g0225others(204): Show | 211 | 350 | 0.6029 | 8 | c.124 others(25): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/16 | chr11 | TogoVar | ||||||
GDPD4_chr11_77211558_77306686 | 77243517 | C | CAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 HG03041.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0184a0002c0002t0001g0219a0002c0002t0001g0220others(3): Show | 6 | 350 | 0.0171 | 8 | c.124 others(25): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/16 | chr11 | TogoVar | ||||||
GDPD5_chr11_75429640_75530941 | 75485510 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02572.hp2 HG02965.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0011 | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0001t0001g0017a0001c0003t0003g0013a0001c0003t0004g0220others(3): Show | 7 | 322 | 0.0217 | 8 | c.-61 others(25): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 2/16 | chr11 | TogoVar | ||||||
GDPD5_chr11_75429640_75530941 | 75493229 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0039a0001c0001t0001g0041others(44): Show | 51 | 322 | 0.1584 | 8 | c.-14 others(27): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
GDPD5_chr11_75429640_75530941 | 75512281 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01109.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0111a0001c0001t0001g0112others(21): Show | 28 | 322 | 0.0870 | 8 | c.-14 others(29): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
GDPGP1_chr15_90229209_90250811 | 90239305 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19240.hp2 NA20300.hp1 |
a0003 | a0003c0003a0003c0013 | a0003c0003t0005a0003c0003t0131a0003c0013t0005 | a0003c0003t0005g0102a0003c0003t0131g0097a0003c0013t0005g0099 | 3 | 438 | 0.0069 | 8 | c.-10 others(23): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GDPGP1_chr15_90229209_90250811 | 90249947 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02015.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0082 | a0001c0001t0001g0003a0001c0001t0003g0005a0001c0001t0082g0006 | 3 | 438 | 0.0069 | 8 | c.*78 others(19): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 4137 | chr15 | TogoVar | ||||||
GEMIN5_chr5_154882411_154943211 | 154907456 | T | TGAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp2 HG02129.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0131a0001c0001t0001g0132others(10): Show | 15 | 338 | 0.0444 | 8 | c.239 others(25): Show |
GEMIN5 | ENSG00000082516.9 | transcript | ENST00000285873.8 | protein_coding | 16/27 | chr5 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38773408 | T | TCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01074.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(23): Show | 37 | 412 | 0.0898 | 8 | c.-48 others(19): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4801 | chr2 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38773412 | G | GCCTCCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01261.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0051a0002c0002t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0026others(23): Show | 48 | 412 | 0.1165 | 8 | c.-48 others(19): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4797 | chr2 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38773781 | C | CTCTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03471.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0027others(5): Show | 9 | 412 | 0.0218 | 8 | c.-45 others(19): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4428 | chr2 | TogoVar | ||||||
GEMIN6_chr2_38773210_38790002 | 38779636 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG02155.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0016a0001c0001t0004g0016others(8): Show | 19 | 412 | 0.0461 | 8 | c.128 others(23): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GEMIN8_chrX_14001726_14034892 | 14002329 | T | TGATAGAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG02886.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0139others(2): Show | 5 | 273 | 0.0183 | 8 | c.*65 others(19): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4396 | chrX | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14011516 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0165a0001c0001t0003g0026a0001c0001t0003g0053others(4): Show | 8 | 273 | 0.0293 | 8 | c.473 others(25): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14021814 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | 273 | 0.0073 | 8 | c.-33 others(23): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 2/4 | chrX | TogoVar | ||||||
GEMIN8_chrX_14001726_14034892 | 14021814 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 273 | 0.0037 | 8 | c.-33 others(23): Show |
GEMIN8 | ENSG00000046647.14 | transcript | ENST00000680255.1 | protein_coding | 2/4 | chrX | TogoVar | ||||||
GEM_chr8_94244253_94267319 | 94247503 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03195.hp1 HG03209.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0009a0006c0007t0004 | a0001c0001t0009g0016a0006c0007t0004g0030 | 3 | 412 | 0.0073 | 8 | c.*28 others(19): Show |
GEM | ENSG00000164949.8 | transcript | ENST00000297596.3 | protein_coding | 1749 | chr8 | TogoVar | ||||||
GET1_chr21_39375326_39402889 | 39378582 | C | CCTTTCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0005a0001c0001t0002g0060a0001c0001t0009g0005 | 3 | 338 | 0.0089 | 8 | c.-18 others(19): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1743 | chr21 | TogoVar |