view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAN1B1_chr9_137081985_137114183 | 137114078 | G | GCGTGCCC others(198): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0105 | 1 | 404 | 0.0025 | 205 | c.*54 others(216): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 4896 | chr9 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 87 | 0.0115 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 87 | 0.0115 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 87 | 0.0115 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GTGAGAGG others(198): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 96 | 0.0104 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113011687 | G | GGTGTGGA others(198): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 114 | 0.0088 | 205 | c.80- others(220): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438239 | G | GGGTGGGT others(198): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0207 | 1 | 384 | 0.0026 | 205 | c.-51 others(222): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237542803 | G | GGGCACGG others(198): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 204 | 0.0049 | 205 | c.153 others(222): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542803 | G | GGGCACGG others(198): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18964.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 a0002c0002t0001g0069 |
2 | 205 | 0.0098 | 205 | c.153 others(222): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544127 | G | GGGGGGAC others(198): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 272 | 0.0037 | 205 | c.153 others(224): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGAGAGAG others(198): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 others(7): Show |
10 | 231 | 0.0433 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 222 | 0.0045 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01515.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0185 a0001c0002t0003g0183 a0001c0002t0003g0250 |
3 | 224 | 0.0134 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(198): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18968.hp2 NA18984.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0001 | a0001c0001t0002g0217 a0001c0001t0004g0218 a0001c0004t0001g0113 |
3 | 64 | 0.0469 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432680 | A | AGAGAGAT others(198): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0234 | 1 | 202 | 0.0050 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AAAGGGAG others(198): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0199 | 1 | 131 | 0.0076 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767614 | T | TGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0248 | 1 | 285 | 0.0035 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(198): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 320 | 0.0031 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767853 | G | GAGGCGCG others(198): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0252 | 1 | 383 | 0.0026 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769181 | G | GGCCCCAG others(198): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0283 | 1 | 341 | 0.0029 | 205 | c.*44 others(214): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 320 | chr16 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250678 | A | AAAGAAGA others(198): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 226 | 0.0044 | 205 | c.677 others(220): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATA others(198): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 |
a0001a0006 | a0001c0061a0006c0033 | a0001c0061t0001a0006c0033t0003 | a0001c0061t0001g0031 a0006c0033t0003g0019 |
2 | 80 | 0.0250 | 205 | c.279 others(224): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATA others(198): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 |
a0001a0007 | a0001c0002a0007c0023 | a0001c0002t0004a0007c0023t0001 | a0001c0002t0004g0047 a0007c0023t0001g0115 |
2 | 80 | 0.0250 | 205 | c.279 others(224): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1952726 | C | CCCTCCCT others(198): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0005t0001others(5): Show | a0001c0003t0001g0067 a0001c0003t0002g0017 a0001c0003t0002g0077 others(6): Show |
9 | 102 | 0.0882 | 205 | c.153 others(222): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64178470 | G | GCAGAGCC others(198): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0055 others(142): Show |
149 | 218 | 0.6835 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03942.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003a0001c0005t0023 | a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0003g0029 others(1): Show |
4 | 27 | 0.1481 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0124 | 1 | 24 | 0.0417 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01074.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0112 a0001c0001t0001g0156 a0001c0001t0001g0191 others(19): Show |
23 | 46 | 0.5000 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178500 | A | AACGTGGG others(198): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18612.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0013a0001c0006t0015 | a0001c0001t0001g0025 a0001c0001t0013g0026 a0001c0006t0015g0027 |
3 | 214 | 0.0140 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178500 | A | AACGTGGG others(198): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0024 others(5): Show |
8 | 219 | 0.0365 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NACAD_chr7_45075437_45093969 | 45079309 | A | AGGGGACA others(198): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp2 NA18906.hp2 |
a0007a0043 | a0007c0007a0043c0066 | a0007c0007t0001a0043c0066t0001 | a0007c0007t0001g0023 a0043c0066t0001g0068 |
3 | 340 | 0.0088 | 205 | c.*11 others(216): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 1127 | chr7 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101391820 | T | TAAAAAAT others(198): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 159 | 0.0063 | 205 | c.291 others(222): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 3/43 | chr13 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15541919 | C | CCTGCCCG others(198): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01934.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0186 others(3): Show |
6 | 112 | 0.0536 | 205 | c.380 others(222): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 6/51 | chr2 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667406 | T | TCCCTTAC others(198): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 156 | 0.0064 | 205 | c.148 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667664 | T | TCCTTACC others(198): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0275 |
2 | 200 | 0.0100 | 205 | c.148 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668244 | C | CCCTTACC others(198): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0205 | 1 | 354 | 0.0028 | 205 | c.147 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NEDD4L_chr18_58039226_58406539 | 58170807 | A | AGGACAGA others(198): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0077 a0001c0001t0004g0071 |
2 | 116 | 0.0172 | 205 | c.122 others(222): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58170848 | A | AGGACAGA others(198): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0031a0001c0005t0048 | a0001c0001t0031g0015 a0001c0005t0048g0070 |
2 | 101 | 0.0198 | 205 | c.122 others(222): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58170848 | A | AGGACAGA others(198): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 100 | 0.0100 | 205 | c.122 others(222): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77887912 | T | TTTCTTCT others(198): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 176 | 0.0057 | 205 | c.-90 others(214): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 711 | chr1 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(198): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02523.hp2 NA20805.hp1 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0007a0001c0002t0003a0001c0007t0006 | a0001c0001t0007g0083 a0001c0002t0003g0064 a0001c0007t0006g0349 |
3 | 120 | 0.0250 | 205 | c.-75 others(224): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55999988 | C | CATGACAG others(198): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0103 | 1 | 242 | 0.0041 | 205 | c.62+ others(218): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(198): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0028 | a0001c0001t0001a0001c0001t0034a0001c0005t0001others(1): Show | a0001c0001t0001g0266 a0001c0001t0034g0318 a0001c0005t0001g0213 others(1): Show |
4 | 209 | 0.0191 | 205 | c.140 others(222): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535755 | C | CGGGGCAA others(198): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0019a0001c0005t0008 | a0001c0001t0012g0001 a0001c0001t0019g0008 a0001c0005t0008g0026 |
4 | 286 | 0.0140 | 205 | c.140 others(222): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCTCCCCA others(198): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 30 | 0.0333 | 205 | c.433 others(222): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NWD2_chr4_37239743_37454463 | 37330953 | G | GTACAATA others(198): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 others(69): Show |
72 | 287 | 0.2509 | 205 | c.240 others(222): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37331018 | C | CCTACTTG others(198): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 294 | 0.0034 | 205 | c.240 others(222): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37331240 | A | ATACAATA others(198): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 others(67): Show |
70 | 198 | 0.3535 | 205 | c.240 others(222): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8623671 | A | AAAAAGTT others(198): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0131 |
2 | 143 | 0.0140 | 205 | c.55- others(224): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237648 | A | AGTATATA others(198): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 434 | 0.0023 | 205 | c.-16 others(216): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1637 | chr14 | TogoVar |