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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC7_chr16_18978934_19068942 | 19040499 | ACT | A | intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 HG03453.hp1 |
a0005 | a0005c0007 | a0005c0007t0013a0005c0007t0021 | a0005c0007t0013g0200a0005c0007t0013g0202a0005c0007t0021g0203 | 3 | 282 | 0.0106 | -2 | c.133 others(17): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19045591 | CTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01934.hp1 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0182others(20): Show | 23 | 282 | 0.0816 | -2 | c.155 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19047713 | ATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(93): Show |
a0001a0002a0004others(2): Show | a0001c0005a0002c0002a0002c0003others(6): Show | a0001c0005t0002a0002c0002t0001a0002c0002t0002others(19): Show | a0001c0005t0002g0248a0002c0002t0001g0029a0002c0002t0002g0016others(93): Show | 96 | 282 | 0.3404 | -2 | c.174 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19050366 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(103): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(29): Show | a0001c0001t0001g0069a0001c0001t0001g0184a0001c0001t0001g0220others(103): Show | 106 | 282 | 0.3759 | -2 | c.174 others(21): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19058740 | CTG | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 NA19240.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0018a0001c0006t0034a0002c0003t0016 | a0001c0006t0018g0155a0001c0006t0018g0156a0001c0006t0034g0154others(1): Show | 4 | 282 | 0.0142 | -2 | c.202 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19063672 | TTG | T | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0226a0001c0001t0005g0258a0002c0002t0005g0057others(3): Show | 6 | 282 | 0.0213 | -2 | c.*18 others(13): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 16/16 | 1854 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
TMC7_chr16_18978934_19068942 | 19064349 | CTG | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG02055.hp2 others(45): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0004others(44): Show | 48 | 282 | 0.1702 | -2 | c.*25 others(13): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 408 | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19068676 | AAG | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01123.hp2 others(4): Show |
a0001a0008 | a0001c0001a0001c0017a0008c0016 | a0001c0001t0001a0001c0001t0005a0001c0017t0033others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0231a0001c0001t0001g0259others(4): Show | 7 | 282 | 0.0248 | -2 | c.*68 others(13): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 4735 | chr16 | TogoVar | ||||||
TMC8_chr17_78125771_78147968 | 78128798 | CGG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0028others(64): Show | 118 | 454 | 0.2599 | -2 | c.-23 others(13): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 1972 | chr17 | TogoVar | ||||||
TMC8_chr17_78125771_78147968 | 78129113 | AGC | A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01192.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0028a0001c0001t0001g0043others(21): Show | 33 | 454 | 0.0727 | -2 | c.-20 others(13): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 1657 | chr17 | TogoVar | ||||||
TMC8_chr17_78125771_78147968 | 78139728 | TAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01243.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0160a0001c0001t0004g0010a0001c0001t0007g0010others(6): Show | 19 | 454 | 0.0419 | -2 | c.190 others(19): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMC8_chr17_78125771_78147968 | 78142978 | GTT | G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01123.hp1 others(51): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0005g0006others(24): Show | 54 | 454 | 0.1189 | -2 | c.*18 others(13): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 11 | chr17 | TogoVar | ||||||
TMC8_chr17_78125771_78147968 | 78145792 | CTT | C | downstream_gene_variant | MODIFIER | HG02897.hp2 NA18959.hp1 NA18964.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0006t0001 | a0001c0001t0001g0014a0001c0001t0004g0001a0001c0001t0004g0036others(2): Show | 7 | 454 | 0.0154 | -2 | c.*46 others(13): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 2825 | chr17 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129679896 | CTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02280.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0160a0002c0003t0007g0161a0002c0003t0007g0162others(4): Show | 7 | 258 | 0.0271 | -2 | c.577 others(19): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129695096 | CAA | C | intron_variant | MODIFIER | HG03098.hp1 HG03490.hp2 HG03654.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0071a0001c0001t0002g0102a0001c0001t0002g0129others(7): Show | 10 | 258 | 0.0388 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129716164 | TTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(246): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0033others(246): Show | 249 | 258 | 0.9651 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129716501 | ATT | A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0198a0001c0001t0002g0199a0001c0001t0002g0200others(3): Show | 6 | 258 | 0.0233 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129721704 | CAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02602.hp1 HG03017.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0002t0005a0002c0003t0012others(1): Show | a0001c0001t0008g0153a0001c0001t0008g0253a0001c0001t0008g0254others(5): Show | 8 | 258 | 0.0310 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129738512 | ATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(119): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0052a0001c0001t0001g0058a0001c0001t0001g0139others(119): Show | 122 | 258 | 0.4729 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129748191 | CTG | C | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189a0001c0001t0004g0251a0001c0001t0004g0252 | 3 | 258 | 0.0116 | -2 | c.577 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129750570 | ATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0031a0001c0001t0001g0039a0001c0001t0001g0058others(130): Show | 133 | 258 | 0.5155 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129753900 | ACT | A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01167.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0005a0001c0002t0008others(3): Show | a0001c0001t0008g0153a0001c0001t0008g0154a0001c0001t0008g0155others(31): Show | 34 | 258 | 0.1318 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129759710 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01167.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0024a0001c0001t0001g0041a0001c0001t0001g0050others(40): Show | 43 | 258 | 0.1667 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129760401 | AGT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0069a0001c0001t0001g0080others(49): Show | 52 | 258 | 0.2016 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129760434 | GTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02015.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0026 | a0001c0001t0002g0224a0001c0001t0003g0217a0001c0001t0003g0219others(8): Show | 11 | 258 | 0.0426 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129760454 | CTG | C | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01261.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0207a0001c0001t0003g0210a0001c0002t0005g0177others(2): Show | 5 | 258 | 0.0194 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129761327 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(181): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0033others(181): Show | 184 | 258 | 0.7132 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129763902 | TAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0009others(2): Show | a0001c0002t0005g0169a0001c0002t0005g0170a0001c0002t0005g0171others(15): Show | 18 | 258 | 0.0698 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129772722 | CAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01891.hp2 HG02258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0106a0001c0001t0002g0119others(16): Show | 19 | 258 | 0.0736 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129785560 | TAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01167.hp1 others(29): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0008a0001c0002t0009others(4): Show | a0001c0002t0005g0110a0001c0002t0005g0111a0001c0002t0005g0169others(29): Show | 32 | 258 | 0.1240 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129785586 | AAC | A | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02055.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0002g0198a0001c0001t0002g0199a0001c0001t0002g0200others(14): Show | 17 | 258 | 0.0659 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129785933 | CTT | C | intron_variant | MODIFIER | HG01978.hp1 HG02155.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0002g0112a0001c0001t0002g0130a0001c0001t0002g0142others(3): Show | 6 | 258 | 0.0233 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129808920 | GGA | G | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG03209.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0024a0002c0003t0012others(1): Show | a0001c0001t0004g0246a0001c0001t0024g0038a0002c0003t0012g0034others(3): Show | 6 | 258 | 0.0233 | -2 | c.576 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129829452 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0037others(138): Show | 141 | 258 | 0.5465 | -2 | c.-13 others(19): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129838752 | CAA | C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0003g0223others(9): Show | 12 | 258 | 0.0465 | -2 | c.-18 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129838878 | TAA | T | intron_variant | MODIFIER | HG03209.hp2 HG03225.hp2 HG03471.hp1 |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0018 | a0002c0003t0012g0034a0002c0003t0012g0035a0002c0003t0018g0004 | 3 | 258 | 0.0116 | -2 | c.-18 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129842477 | AAC | A | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0124a0001c0001t0002g0138a0001c0001t0002g0147others(9): Show | 12 | 258 | 0.0465 | -2 | c.-18 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129845190 | TCA | T | intron_variant | MODIFIER | HG01167.hp2 HG02572.hp2 HG02723.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0042a0001c0001t0001g0074others(9): Show | 12 | 258 | 0.0465 | -2 | c.-18 others(23): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129846867 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0033others(172): Show | 175 | 258 | 0.6783 | -2 | c.-18 others(23): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129857258 | AAG | A | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0002g0198a0001c0001t0002g0199a0001c0001t0002g0200others(10): Show | 13 | 258 | 0.0504 | -2 | c.-18 others(23): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129859651 | TAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0012 | a0001c0002t0005g0172a0001c0002t0005g0173a0001c0002t0005g0174others(2): Show | 5 | 258 | 0.0194 | -2 | c.-18 others(23): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129866341 | ATT | A | intron_variant | MODIFIER | HG03209.hp2 HG03225.hp2 HG03471.hp1 |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0018 | a0002c0003t0012g0034a0002c0003t0012g0035a0002c0003t0018g0004 | 3 | 258 | 0.0116 | -2 | c.-18 others(23): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129876936 | AAC | A | intron_variant | MODIFIER | HG03209.hp2 HG03225.hp2 HG03471.hp1 |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0018 | a0002c0003t0012g0034a0002c0003t0012g0035a0002c0003t0018g0004 | 3 | 258 | 0.0116 | -2 | c.-18 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129883130 | AAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(88): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0031a0001c0001t0001g0131a0001c0001t0001g0134others(88): Show | 91 | 258 | 0.3527 | -2 | c.-43 others(21): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129894542 | AGT | A | upstream_gene_variant | MODIFIER | HG02257.hp2 NA19240.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0196a0001c0001t0004g0197a0001c0001t0025g0195 | 3 | 258 | 0.0116 | -2 | c.-14 others(13): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 832 | chr3 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129895971 | CAA | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01167.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0208a0001c0001t0003g0240a0001c0001t0003g0242others(36): Show | 39 | 258 | 0.1512 | -2 | c.-29 others(13): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2261 | chr3 | TogoVar | ||||||
TMCC2_chr1_205222946_205278343 | 205229153 | TTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0282others(29): Show | 34 | 372 | 0.0914 | -2 | c.207 others(17): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMCC2_chr1_205222946_205278343 | 205229545 | CGG | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00673.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014others(37): Show | 44 | 372 | 0.1183 | -2 | c.207 others(17): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMCC2_chr1_205222946_205278343 | 205232934 | CAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01884.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0042others(41): Show | 45 | 372 | 0.1210 | -2 | c.207 others(19): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMCC2_chr1_205222946_205278343 | 205233704 | CAG | C | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0291a0001c0001t0001g0302others(7): Show | 12 | 372 | 0.0323 | -2 | c.207 others(19): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |