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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110385587 | G | GCCGTGGC others(233): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 372 | 0.0027 | 240 | c.180 others(259): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481018 | T | TTCCGTTG others(233): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0119 | a0001c0119t0032 | a0001c0119t0032g0005 | 1 | 372 | 0.0027 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481040 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 |
a0002a0004 | a0002c0086a0004c0084 | a0002c0086t0002a0004c0084t0005 | a0002c0086t0002g0279a0004c0084t0005g0253 | 2 | 372 | 0.0054 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481040 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0013 | a0001c0002t0001a0001c0002t0029a0001c0011t0022others(1): Show | a0001c0002t0001g0101a0001c0002t0029g0204a0001c0011t0022g0358others(1): Show | 4 | 372 | 0.0108 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481100 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0106 | a0001c0106t0001 | a0001c0106t0001g0217 | 1 | 372 | 0.0027 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481100 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18945.hp1 NA18960.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0003a0001c0005t0002others(3): Show | a0001c0001t0001g0363a0001c0004t0003g0059a0001c0005t0002g0297others(3): Show | 6 | 372 | 0.0161 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481130 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0055 | 1 | 372 | 0.0027 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110481130 | T | TTCTGTCC others(233): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0005 | a0005c0020 | a0005c0020t0002 | a0005c0020t0002g0270 | 1 | 372 | 0.0027 | 240 | c.275 others(257): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203158 | C | CATATATA others(233): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0132 | 1 | 344 | 0.0029 | 240 | c.88- others(257): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686116 | C | CTCCCTCC others(233): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03516.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0134a0007c0007t0001g0119 | 2 | 346 | 0.0058 | 240 | c.463 others(257): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686124 | C | CTCCCTTC others(233): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0126 | 1 | 346 | 0.0029 | 240 | c.463 others(257): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1L_chr1_207640133_207728703 | 207686126 | T | TCCTTCCT others(233): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03486.hp2 |
a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0120a0009c0010t0001g0133 | 2 | 346 | 0.0058 | 240 | c.463 others(257): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(233): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 370 | 0.0027 | 240 | c.*56 others(251): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(233): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 370 | 0.0027 | 240 | c.*56 others(251): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647321 | T | TCCTCCTC others(233): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 276 | 0.0036 | 240 | c.*51 others(251): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1977 | chr15 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284374 | A | AATTTTTT others(233): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0002g0061 | 2 | 159 | 0.0126 | 240 | c.77- others(255): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3182845 | T | TGTGTGTG others(233): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0033 | a0033c0042 | a0033c0042t0004 | a0033c0042t0004g0004 | 1 | 126 | 0.0079 | 240 | c.562 others(259): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79687247 | G | GCTTCGCC others(233): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0344 | 1 | 378 | 0.0027 | 240 | c.314 others(257): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79687253 | T | TCAGTTCA others(233): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0024 | a0005c0024t0001 | a0005c0024t0001g0371 | 1 | 378 | 0.0027 | 240 | c.314 others(257): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(233): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 334 | 0.0030 | 240 | c.290 others(255): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(233): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0002 | a0002c0002t0127 | a0002c0002t0127g0211 | 1 | 334 | 0.0030 | 240 | c.290 others(255): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(233): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0270 | 1 | 334 | 0.0030 | 240 | c.290 others(255): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATGT others(233): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0162 | a0002c0002t0162g0241 | 1 | 334 | 0.0030 | 240 | c.290 others(255): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15931601 | T | TGAGGAGA others(233): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0024 | 1 | 386 | 0.0026 | 240 | c.199 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15931865 | G | GAGAGGAA others(233): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0195 | 1 | 386 | 0.0026 | 240 | c.199 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932081 | T | TGAGGAGA others(233): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0027 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932083 | A | AGAAGAGG others(233): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0001 | a0002c0001t0030 | a0002c0001t0030g0358 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932281 | T | TGAGGAGA others(233): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0044 | a0003c0003t0044g0115 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932293 | T | TGAGTGAG others(233): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0234 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932313 | T | TGAGTGAG others(233): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0239 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932705 | G | GAGAGGAG others(233): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0140 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932723 | A | AGGAGAGG others(233): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0049 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932805 | G | GAGAGGAG others(233): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0001 | a0002c0001t0090 | a0002c0001t0090g0179 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932885 | G | GAGAGGAG others(233): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0141 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932945 | G | GAGAGGAG others(233): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0184 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933105 | G | GAGAGGAG others(233): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0159 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933109 | G | GGAGTGAG others(233): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0038 | a0003c0003t0038g0103 | 1 | 386 | 0.0026 | 240 | c.198 others(257): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933329 | A | AGAATGAG others(233): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0006 | a0001c0006t0042 | a0001c0006t0042g0002 | 2 | 386 | 0.0052 | 240 | c.198 others(255): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933443 | A | AGGAGAGG others(233): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0145 | a0001c0002t0145g0273 | 1 | 386 | 0.0026 | 240 | c.198 others(255): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGGGGAGA others(233): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0251 | 1 | 386 | 0.0026 | 240 | c.198 others(255): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15934023 | G | AGGAGAGG others(233): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18990.hp2 NA19089.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017a0001c0002t0061 | a0001c0002t0001g0283a0001c0002t0017g0007a0001c0002t0061g0006 | 3 | 386 | 0.0078 | 240 | c.198 others(255): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15934041 | C | CGGGCAGA others(233): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0004 | a0001c0004t0034 | a0001c0004t0034g0038 | 1 | 386 | 0.0026 | 240 | c.198 others(255): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269067 | A | ATTATATA others(233): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 240 | 0.0042 | 240 | c.*36 others(251): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2400 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269067 | A | ATTATATA others(233): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 240 | 0.0042 | 240 | c.*36 others(251): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2400 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269067 | A | ATTATATA others(233): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 240 | 0.0042 | 240 | c.*36 others(251): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2400 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269067 | A | ATTATATA others(233): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 | 1 | 240 | 0.0042 | 240 | c.*36 others(251): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2400 | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 653368 | C | CTCTCTCT others(233): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 345 | 0.0029 | 240 | c.159 others(257): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 653368 | C | CTCTCTCT others(233): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 345 | 0.0029 | 240 | c.159 others(257): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713905 | A | AATATATT others(233): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0059a0001c0001t0003g0023a0001c0001t0003g0026others(27): Show | 30 | 280 | 0.1071 | 240 | c.126 others(257): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713905 | A | AATATATT others(233): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00733.hp2 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0184a0001c0001t0001g0187a0001c0001t0001g0194others(17): Show | 20 | 280 | 0.0714 | 240 | c.126 others(257): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar |