Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TOP1MT_chr8_143304324_143339880	143322376	GCCACACA others(21): Show GCCACACACGCACGCCACACACATGCTCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	430	0.0023	-28	c.961 others(44): Show c.961-1018_961-991delTGAGCATGTGTGTGGCGTGCGTGTGTGG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143323046	GGCACGCC others(21): Show GGCACGCCACACACAGGCACACCACACAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	430	0.0023	-28	c.960 others(43): Show c.960+925_960+952delGTGTGTGGTGTGCCTGTGTGTGGCGTGC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOX3_chr16_52431417_52552143	52450791	TGGAAGGA others(21): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG02615.hp2 others(2): Show HG00738.hp2 HG01109.hp2 HG02615.hp2 HG03139.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0002 a0001c0002t0029 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0029 a0001c0003t0005	a0001c0001t0004g0016 a0001c0002t0002g0050 a0001c0002t0002g0068 others(2): Show a0001c0001t0004g0016 a0001c0002t0002g0050 a0001c0002t0002g0068 a0001c0002t0029g0318 a0001c0003t0005g0169	5	322	0.0155	-28	c.409 others(43): Show c.409-273_409-246delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	TOX3	ENSG00000103460.17	transcript	ENST00000219746.14	protein_coding	3/6			chr16	TogoVar
TP63_chr3_189626389_189902276	189682547	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp2 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0282 a0001c0001t0002g0284	2	312	0.0064	-28	c.62+ others(45): Show c.62+50972_62+50999delAAAAAATATATATATATATATATATATA	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189626389_189902276	189875589	CATACATA others(21): Show CATACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02895.hp1 NA20129.hp1 HG01081.hp1 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0031 a0001c0001t0018 a0001c0001t0031	a0001c0001t0018g0277 a0001c0001t0018g0290 a0001c0001t0031g0063 a0001c0001t0018g0277 a0001c0001t0018g0290 a0001c0001t0031g0063	3	312	0.0096	-28	c.134 others(47): Show c.1349+2598_1349+2625delCATATATATATATATATATATATATA TA	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189626389_189902276	189875593	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00423.hp2 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0306 a0001c0001t0001g0031 a0001c0001t0002g0306	2	312	0.0064	-28	c.134 others(47): Show c.1349+2616_1349+2643delTATATATATATATATATATATATATA TA	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189784659_189902276	189875589	CATACATA others(21): Show CATACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02895.hp2 NA20129.hp1 HG01081.hp1 HG02895.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0103 a0001c0001t0013g0201 a0001c0001t0013g0383 a0001c0001t0013g0103 a0001c0001t0013g0201 a0001c0001t0013g0383	3	398	0.0075	-28	c.106 others(47): Show c.1067+2598_1067+2625delCATATATATATATATATATATATATA TA	TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189784659_189902276	189875593	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00423.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0002g0191 a0001c0001t0001g0120 a0001c0001t0002g0191	2	398	0.0050	-28	c.106 others(47): Show c.1067+2616_1067+2643delTATATATATATATATATATATATATA TA	TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPCN2_chr11_69043932_69095597	69071089	GGCTTCAC others(21): Show GGCTTCACCCCAGGGATCCCCCACCAACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(133): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0003 a0004 a0005 others(4): Show a0003 a0004 a0005 a0009 a0014 a0020 a0021	a0003c0003 a0003c0020 a0003c0025 others(11): Show a0003c0003 a0003c0020 a0003c0025 a0003c0042 a0004c0006 a0004c0011 a0004c0013 a0004c0023 a0004c0031 a0005c0004 a0009c0012 a0014c0038 a0020c0024 a0021c0026	a0003c0003t0002 a0003c0003t0039 a0003c0020t0002 others(23): Show a0003c0003t0002 a0003c0003t0039 a0003c0020t0002 a0003c0025t0002 a0003c0042t0002 a0004c0006t0002 a0004c0006t0007 a0004c0006t0009 a0004c0006t0018 a0004c0006t0019 a0004c0006t0020 a0004c0006t0033 a0004c0006t0036 a0004c0006t0037 a0004c0011t0012 a0004c0013t0015 a0004c0023t0019 a0004c0031t0012 a0005c0004t0007 a0005c0004t0008 a0005c0004t0032 a0005c0004t0038 a0009c0012t0002 a0014c0038t0009 a0020c0024t0007 a0021c0026t0002	a0003c0003t0002g0009 a0003c0003t0002g0013 a0003c0003t0002g0014 others(107): Show a0003c0003t0002g0009 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0158 a0003c0003t0002g0160 a0003c0003t0002g0166 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0039g0127 a0003c0020t0002g0115 a0003c0020t0002g0164 a0003c0025t0002g0136 a0003c0042t0002g0099 a0004c0006t0002g0159 a0004c0006t0007g0150 a0004c0006t0009g0016 a0004c0006t0009g0190 a0004c0006t0009g0192 a0004c0006t0009g0213 a0004c0006t0009g0214 a0004c0006t0009g0215 a0004c0006t0009g0216 a0004c0006t0009g0217 a0004c0006t0018g0015 a0004c0006t0019g0270 a0004c0006t0020g0047 a0004c0006t0033g0207 a0004c0006t0036g0218 a0004c0006t0037g0191 a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 a0004c0011t0012g0205 a0004c0011t0012g0206 a0004c0011t0012g0210 a0004c0013t0015g0038 a0004c0013t0015g0208 a0004c0013t0015g0209 a0004c0013t0015g0211 a0004c0023t0019g0271 a0004c0031t0012g0202 a0005c0004t0007g0026 a0005c0004t0007g0037 a0005c0004t0007g0111 a0005c0004t0007g0141 a0005c0004t0007g0142 a0005c0004t0007g0146 a0005c0004t0007g0147 a0005c0004t0007g0148 a0005c0004t0007g0149 a0005c0004t0007g0154 a0005c0004t0007g0161 a0005c0004t0007g0162 a0005c0004t0007g0268 a0005c0004t0007g0269 a0005c0004t0008g0010 a0005c0004t0008g0081 a0005c0004t0008g0109 a0005c0004t0008g0122 a0005c0004t0008g0138 a0005c0004t0008g0140 a0005c0004t0008g0151 a0005c0004t0008g0180 a0005c0004t0008g0225 a0005c0004t0032g0163 a0005c0004t0038g0139 a0009c0012t0002g0028 a0009c0012t0002g0032 a0009c0012t0002g0114 a0009c0012t0002g0165 a0014c0038t0009g0212 a0020c0024t0007g0179 a0021c0026t0002g0193	136	404	0.3366	-28	c.896 others(43): Show c.896-214_896-187delAACAGCTTCACCCCAGGGATCCCCCACC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69073104	ACCTGCCA others(21): Show ACCTGCCAGGGATCCTGGCTCCTAGTATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0007 a0020c0024t0007	a0020c0024t0007g0179 a0020c0024t0007g0179	1	404	0.0025	-28	c.123 others(45): Show c.1230+104_1230+131delCCTGCCAGGGATCCTGGCTCCTAGTATG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24			chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125172133	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	320	0.0031	-28	c.19+ others(45): Show c.19+18166_19+18193delCTTTCTTTCTTTCTTTCTTTCTTTTCTT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125172137	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG01192.hp1 others(5): Show HG00140.hp2 HG00621.hp2 HG01192.hp1 HG01515.hp2 HG02083.hp2 HG02145.hp2 HG02559.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0002g0202	8	320	0.0250	-28	c.19+ others(45): Show c.19+18170_19+18197delCTTTCTTTCTTTCTTTCTTTTCTTTCTT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125172141	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	320	0.0031	-28	c.19+ others(45): Show c.19+18174_19+18201delCTTTCTTTCTTTCTTTTCTTTCTTTCTT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125216527	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	320	0.0031	-28	c.20- others(43): Show c.20-3549_20-3522delGTATATATATATATATATATATATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125260962	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	320	0.0031	-28	c.487 others(45): Show c.487-1870_487-1843delGAAAGAAAGAAAGAAAAGAAAAGAAAGA	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125261014	GAAAGAAA others(21): Show GAAAGAAAAGAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0218 a0001c0001t0001g0219 a0001c0001t0002g0218	2	320	0.0063	-28	c.487 others(45): Show c.487-1818_487-1791delAAGAAAAGAAAAGAAAGAAAGAAAGAAA	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52_chr8_80029745_80176564	80072352	TGTGTATA others(21): Show TGTGTATATACATGTACACATAGATATGC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp2 others(45): Show HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01109.hp1 HG01175.hp2 HG01496.hp1 HG01981.hp1 HG02080.hp2 HG02165.hp1 HG02451.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03579.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18968.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0004 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0004g0073 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0128 a0001c0001t0004g0133 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0215 a0001c0001t0004g0224 a0001c0001t0005g0095 a0001c0001t0006g0091 a0001c0001t0008g0002 a0001c0001t0008g0175 a0001c0001t0009g0130 a0001c0001t0019g0107 a0002c0002t0001g0060 a0002c0002t0001g0061	48	228	0.2105	-28	c.20- others(43): Show c.20-7787_20-7760delGCATATCTATGTGTACATGTATATACAC	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPD52_chr8_80029745_80176564	80072650	CAGATATG others(21): Show CAGATATGTGTGTATATACATGTACACAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG02145.hp2 HG02559.hp2 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 others(1): Show a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0018g0166	4	228	0.0175	-28	c.20- others(43): Show c.20-8085_20-8058delATGTGTACATGTATATACACACATATCT	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPD52_chr8_80029745_80176564	80094428	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 HG01167.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0170 a0001c0001t0005g0165 a0001c0001t0005g0170	2	228	0.0088	-28	c.20- others(45): Show c.20-29863_20-29836delTATATATATATATATATATATATATAAA	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPD52_chr8_80029745_80176564	80094430	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01175.hp1 others(16): Show HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG02004.hp2 HG02145.hp2 HG02300.hp1 HG02559.hp2 HG02647.hp1 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03491.hp2 HG03540.hp1 HG04199.hp2 NA18944.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0186 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0173	19	228	0.0833	-28	c.20- others(45): Show c.20-29865_20-29838delTATATATATATATATATATATATATATA	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPK1_chr7_144446941_144841053	144681402	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp2 NA18522.hp2 others(2): Show HG02886.hp2 HG02897.hp2 NA18522.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0091	5	118	0.0424	-28	c.185 others(45): Show c.185+1479_185+1506delATATATATATATATATATATATATATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	4/8			chr7	TogoVar
TPO_chr2_1408463_1548673	1422296	CGCAGGCG others(21): Show CGCAGGCGCCTCTCCTGGACAGACCTCGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 NA19011.hp2 HG00558.hp2 HG00738.hp2 NA19011.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0010 a0001c0001 a0003c0003 a0010c0010	a0001c0001t0002 a0003c0003t0005 a0010c0010t0007 a0001c0001t0002 a0003c0003t0005 a0010c0010t0007	a0001c0001t0002g0044 a0003c0003t0005g0043 a0010c0010t0007g0081 a0001c0001t0002g0044 a0003c0003t0005g0043 a0010c0010t0007g0081	3	130	0.0231	-28	c.95- others(41): Show c.95-729_95-702delAGACCTCGTGCAGGCGCCTCTCCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1422316	AGACCTCG others(21): Show AGACCTCGTGCAGGCGCCTCTCCTGGACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG06807.hp2 NA18971.hp2 HG01081.hp2 HG06807.hp2 NA18971.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0011 a0001c0001 a0001c0004 a0008c0011	a0001c0001t0002 a0001c0004t0001 a0008c0011t0015 a0001c0001t0002 a0001c0004t0001 a0008c0011t0015	a0001c0001t0002g0065 a0001c0004t0001g0091 a0008c0011t0015g0120 a0001c0001t0002g0065 a0001c0004t0001g0091 a0008c0011t0015g0120	3	130	0.0231	-28	c.95- others(41): Show c.95-711_95-684delTCTCCTGGACCGACCTCGTGCAGGCGCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1522856	CAACCTCC others(21): Show CAACCTCCTCAAATCCCACCACTGTGTGA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	130	0.0077	-28	c.261 others(47): Show c.2618+5891_2618+5918delACCACTGTGTGAAACCTCCTCAAATC CC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1523228	CAACCTCC others(21): Show CAACCTCCCCAAATCCCCCCACTGTGTAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	1	130	0.0077	-28	c.261 others(47): Show c.2618+6272_2618+6299delTAAAACCTCCCCAAATCCCCCCACTG TG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1523256	AAACCTCC others(21): Show AAACCTCCCCAAATCCCCCCACTGTGAGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp2 others(29): Show HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00741.hp1 HG01081.hp1 HG01192.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18962.hp1 NA18971.hp1 NA19058.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(9): Show a0000 a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0014 a0019	a0000c0019 a0001c0001 a0002c0002 others(14): Show a0000c0019 a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0004c0007 a0004c0032 a0006c0009 a0006c0013 a0007c0020 a0007c0021 a0008c0011 a0009c0012 a0009c0034 a0010c0010 a0014c0030 a0019c0024	a0000c0019t0004 a0001c0001t0001 a0002c0002t0002 others(23): Show a0000c0019t0004 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0003c0003t0005 a0004c0005t0003 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0009t0003 a0006c0009t0006 a0006c0013t0007 a0006c0013t0012 a0007c0020t0004 a0007c0021t0004 a0008c0011t0015 a0009c0012t0006 a0009c0034t0003 a0010c0010t0007 a0014c0030t0004 a0019c0024t0005	a0000c0019t0004g0007 a0001c0001t0001g0061 a0002c0002t0002g0004 others(29): Show a0000c0019t0004g0007 a0001c0001t0001g0061 a0002c0002t0002g0004 a0002c0002t0003g0011 a0002c0002t0003g0053 a0002c0002t0003g0127 a0002c0002t0007g0121 a0002c0002t0009g0062 a0002c0002t0013g0119 a0002c0002t0014g0008 a0003c0003t0005g0066 a0004c0005t0003g0017 a0004c0005t0007g0076 a0004c0007t0004g0072 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0006c0009t0003g0050 a0006c0009t0006g0084 a0006c0013t0007g0122 a0006c0013t0012g0067 a0007c0020t0004g0018 a0007c0021t0004g0031 a0008c0011t0015g0120 a0009c0012t0006g0124 a0009c0012t0006g0125 a0009c0034t0003g0118 a0010c0010t0007g0081 a0014c0030t0004g0115 a0019c0024t0005g0009	32	130	0.2462	-28	c.261 others(47): Show c.2618+6328_2618+6355delAGCAACCTCCCCAAATCCCCCCACTG TG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1523731	CCCACTGT others(21): Show CCCACTGTGTGCAACCCCCCCAAATACCG	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	130	0.0077	-28	c.261 others(47): Show c.2618+6765_2618+6792delCCCCCAAATACCGCCACTGTGTGCAA CC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1524215	ACCCCACT others(21): Show ACCCCACTGTGTGCAACCTCCTCAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	130	0.0077	-28	c.261 others(47): Show c.2618+7261_2618+7288delCCCCCACTGTGTGCAACCTCCTCAAA TC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1524254	TGCAACCT others(21): Show TGCAACCTCCTCAAATCTCCTCACAGTGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0005 a0019c0024t0005	a0019c0024t0005g0009 a0019c0024t0005g0009	1	130	0.0077	-28	c.261 others(47): Show c.2618+7289_2618+7316delTCCTCACAGTGAGCAACCTCCTCAAA TC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1524470	ACCCACTG others(21): Show ACCCACTGTGTGCAACCTCCTCAAATCCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0000 a0007 a0000 a0007	a0000c0019 a0007c0020 a0000c0019 a0007c0020	a0000c0019t0004 a0007c0020t0004 a0000c0019t0004 a0007c0020t0004	a0000c0019t0004g0007 a0007c0020t0004g0018 a0000c0019t0004g0007 a0007c0020t0004g0018	2	130	0.0154	-28	c.261 others(47): Show c.2618+7502_2618+7529delACCTCCTCAAATCCTCCCACTGTGTG CA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1525899	TGCAACCT others(21): Show TGCAACCTCCTCAAATCCCCCCACTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02451.hp1 HG00408.hp1 HG02451.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0028 a0002c0002 a0008c0028	a0002c0002t0007 a0008c0028t0003 a0002c0002t0007 a0008c0028t0003	a0002c0002t0007g0121 a0008c0028t0003g0003 a0002c0002t0007g0121 a0008c0028t0003g0003	2	130	0.0154	-28	c.261 others(47): Show c.2618+8930_2618+8957delAATCCCCCCACTGTGCGCAACCTCCT CA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1526865	CCCCTGCT others(21): Show CCCCTGCTTTGTGGGCAATGTCACAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-28	c.261 others(47): Show c.2618+9887_2618+9914delTGCTTTGTGGGCAATGTCACAAAATC CC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1528748	ACACTGTG others(21): Show ACACTGTGTGCAGCCTCCTCAAATCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	130	0.0077	-28	c.261 others(49): Show c.2618+11778_2618+11805delGCCTCCTCAAATCCCCCCACTGTG TGCA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1528955	TCCTCCTA others(21): Show TCCTCCTAAAATCCCCCCACTGTGAGTAA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0105 a0015c0031t0001g0105	1	130	0.0077	-28	c.261 others(49): Show c.2619-11604_2619-11577delAAAATCCCCCCACTGTGAGTAACC TCCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1529129	CGAATCCC others(21): Show CGAATCCCCCCACTGTGTGCAACCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG03654.hp1 HG02145.hp2 HG03209.hp2 HG03654.hp1	a0000 a0001 a0007 a0000 a0001 a0007	a0000c0019 a0001c0001 a0007c0020 a0000c0019 a0001c0001 a0007c0020	a0000c0019t0004 a0001c0001t0002 a0007c0020t0004 a0000c0019t0004 a0001c0001t0002 a0007c0020t0004	a0000c0019t0004g0007 a0001c0001t0002g0082 a0007c0020t0004g0018 a0000c0019t0004g0007 a0001c0001t0002g0082 a0007c0020t0004g0018	3	130	0.0231	-28	c.261 others(49): Show c.2619-11444_2619-11417delACCTCCCTGAATCCCCCCACTGTG TGCA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1530654	TCCCCCAC others(21): Show TCCCCCACACTGTGTGCAACCTTCTCAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0000 a0007 a0000 a0007	a0000c0019 a0007c0020 a0000c0019 a0007c0020	a0000c0019t0004 a0007c0020t0004 a0000c0019t0004 a0007c0020t0004	a0000c0019t0004g0007 a0007c0020t0004g0018 a0000c0019t0004g0007 a0007c0020t0004g0018	2	130	0.0154	-28	c.261 others(47): Show c.2619-9939_2619-9912delCCCCCACACTGTGTGCAACCTTCTCA AA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1534495	CACGCAGT others(21): Show CACGCAGTGTGCAACTTCCCCAAATCCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01192.hp2 others(8): Show HG00597.hp2 HG01081.hp1 HG01192.hp2 HG01978.hp2 HG02040.hp1 HG03239.hp1 NA18962.hp1 NA18971.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0007 a0014	a0002c0002 a0004c0007 a0004c0032 others(3): Show a0002c0002 a0004c0007 a0004c0032 a0006c0013 a0007c0021 a0014c0030	a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 others(5): Show a0002c0002t0009 a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0013t0012 a0007c0021t0004 a0014c0030t0004	a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0072 others(8): Show a0002c0002t0009g0062 a0002c0002t0014g0008 a0004c0007t0004g0072 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0006c0013t0012g0067 a0007c0021t0004g0031 a0014c0030t0004g0115	11	130	0.0846	-28	c.261 others(47): Show c.2619-6098_2619-6071delACGCAGTGTGCAACTTCCCCAAATCC CT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1534558	TCTGTGCA others(21): Show TCTGTGCAACTTCCCCAAATCCGCCCACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	130	0.0077	-28	c.261 others(47): Show c.2619-6026_2619-5999delTTCCCCAAATCCGCCCACACTGTGCA AC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1535692	CCCCAGTG others(21): Show CCCCAGTGTGTGCAACCTCCCGAAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0003 a0006 a0003 a0006	a0003c0018 a0006c0009 a0003c0018 a0006c0009	a0003c0018t0002 a0006c0009t0001 a0003c0018t0002 a0006c0009t0001	a0003c0018t0002g0005 a0006c0009t0001g0123 a0003c0018t0002g0005 a0006c0009t0001g0123	2	130	0.0154	-28	c.261 others(47): Show c.2619-4881_2619-4854delGAAATCCACCCAGTGTGTGCAACCTC CC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1536004	CGCAACCT others(21): Show CGCAACCTCCTCAAATCCCCCCACTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp1 HG02615.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0006 a0002c0002t0003g0127 a0002c0002t0001g0006 a0002c0002t0003g0127	2	130	0.0154	-28	c.261 others(47): Show c.2619-4554_2619-4527delCCTCAAATCCCCCCACTGTGTGCAAC CT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537064	GCCACTGT others(21): Show GCCACTGTGTGCAACCTCACCAAATCCGT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp2 HG02683.hp2 HG02735.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0012 a0004c0005t0001g0075 a0001c0001t0002g0012 a0004c0005t0001g0075	2	130	0.0154	-28	c.261 others(47): Show c.2619-3512_2619-3485delACCAAATCCGTCCACTGTGTGCAACC TC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537791	TTGTGAGC others(21): Show TTGTGAGCAATGTCCCCAAATCCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0004 a0000c0019t0004	a0000c0019t0004g0007 a0000c0019t0004g0007	1	130	0.0077	-28	c.261 others(47): Show c.2619-2793_2619-2766delTGTCCCCAAATCCCCCCACTGTGAGC AA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537806	CCAAATCC others(21): Show CCAAATCCCCCCACTGTGAGCAACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(11): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 others(4): Show a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(11): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0015t0003g0111 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	14	130	0.1077	-28	c.261 others(47): Show c.2619-2770_2619-2743delAGCAACCTCCTCAAATCCCCCCACTG TG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPP2_chr13_102591986_102684958	102652397	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0043	1	366	0.0027	-28	c.299 others(47): Show c.2991+1030_2991+1057delTATATATATATATATATATATATATA TA	TPP2	ENSG00000134900.13	transcript	ENST00000376052.5	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
TPPP_chr5_654862_698352	658645	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG03225.hp1 HG02257.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0063 a0001c0001t0006g0324 a0001c0001t0006g0054 a0001c0001t0006g0063 a0001c0001t0006g0324	3	409	0.0073	-28	c.64 others(39): Show c.6429_*6456delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding		1216		chr5	TogoVar
TPRA1_chr3_127566232_127595733	127578988	GAGCCCAC others(21): Show GAGCCCACACCCGAAGCCCACACCTGGAC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG03540.hp2 others(2): Show HG02723.hp1 HG03098.hp2 HG03540.hp2 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0021 a0001c0002t0010 a0001c0002t0021	a0001c0002t0010g0037 a0001c0002t0010g0072 a0001c0002t0010g0074 others(1): Show a0001c0002t0010g0037 a0001c0002t0010g0072 a0001c0002t0010g0074 a0001c0002t0021g0073	5	426	0.0117	-28	c.258 others(43): Show c.258+724_258+751delGTCCAGGTGTGGGCTTCGGGTGTGGGCT	TPRA1	ENSG00000163870.16	transcript	ENST00000355552.8	protein_coding	3/10			chr3	TogoVar
TPRA1_chr3_127566232_127595733	127588784	ACACGTGG others(21): Show ACACGTGGTGACACACTTAACAATGGCAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	426	0.0024	-28	c.-18 others(45): Show c.-18+1598_-18+1625delATGCCATTGTTAAGTGTGTCACCACGTG	TPRA1	ENSG00000163870.16	transcript	ENST00000355552.8	protein_coding	1/10			chr3	TogoVar
TPRG1_chr3_189166971_189330304	189272724	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0210 a0001c0001t0009g0210	1	288	0.0035	-28	c.479 others(47): Show c.479+33840_479+33867delTTCGTTCCTTCCTTCCTTCCTTCCTT CC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPR_chr1_186306652_186380253	186327164	ACATATAT others(21): Show ACATATATATTATATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	408	0.0025	-28	c.588 others(45): Show c.5889+268_5889+295delATATATATTTATATATATAATATATATG	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TPSAB1_chr16_1235705_1247554	1246976	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02717.hp1 HG02717.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0001 a0008c0008t0001g0001 a0001c0001t0001g0001 a0008c0008t0001g0001	2	290	0.0069	-28	c.47 others(39): Show c.4737_*4764delAAGGAAGGAAGGAAGGAAGGAAGGAAGG	TPSAB1	ENSG00000172236.19	transcript	ENST00000338844.8	protein_coding		4423		chr16	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)