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 (≤).

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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
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(41): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01952.hp1 HG02056.hp1 others(3): Show HG00438.hp2 HG01952.hp1 HG02056.hp1 NA18959.hp1 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0090 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0269	6	270	0.0222	48	c.451 others(65): Show c.451-2605_451-2558dupCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(41): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02523.hp2 others(7): Show HG02129.hp1 HG02257.hp1 HG02523.hp2 HG02735.hp1 HG03017.hp1 HG04204.hp1 NA18986.hp1 NA18990.hp1 NA19077.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0212 a0005c0007t0001g0120 a0005c0007t0001g0121	10	270	0.0370	48	c.451 others(65): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950683	C C	CCCTCGCC others(41): Show CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	270	0.0037	48	c.451 others(65): Show c.451-2638_451-2637insTCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950753	C C	CCCCCTCG others(41): Show CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0143 a0013c0013t0001g0143	1	270	0.0037	48	c.451 others(65): Show c.451-2568_451-2567insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950845	G G	GGGATCCC others(41): Show GGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0101 a0007c0005t0001g0101	1	270	0.0037	48	c.451 others(65): Show c.451-2520_451-2519insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACAGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	270	0.0037	48	c.113 others(69): Show c.1134+22406_1134+22407insAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAACAAAGAAAGAAAGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGGGAGA others(41): Show GAGGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp2 HG02148.hp2 others(11): Show HG00597.hp2 HG01981.hp2 HG02148.hp2 HG02572.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 NA18960.hp2 NA18966.hp2 NA18977.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0231	14	270	0.0519	48	c.113 others(69): Show c.1134+22405_1134+22406insGGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984640	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	270	0.0037	48	c.113 others(69): Show c.1134+22421_1134+22422insAAAGAAAGAAAGAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF12_chr15_56913644_57294853	56984001	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	330	0.0030	48	c.148 others(67): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG02523.hp1 others(10): Show HG00140.hp2 HG01099.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA18949.hp1 NA18957.hp2 NA19057.hp2 NA19079.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0100 others(10): Show a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0308 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0128 a0001c0001t0006g0129 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0015g0043 a0001c0001t0015g0044 a0001c0001t0022g0290	13	330	0.0394	48	c.222 others(67): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(41): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	300	0.0033	48	c.-46 others(59): Show c.-4615_-4614insAAAAAAAAATATATATATATATATATATATATAT ATATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89885977	C C	CGCCCTTC others(41): Show CGCCCTTCTCTGCGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTGCGGCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	300	0.0033	48	c.548 others(61): Show c.548+39_548+86dupCGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTG CGGCTGCCCTTCTCTG	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89885977	C C	CGCCCTTC others(41): Show CGCCCTTCTCTGTGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTGCGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(33): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18990.hp2 NA19003.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp2 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0014 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 a0003c0014t0001 a0005c0007t0001	a0001c0001t0001g0245 a0001c0002t0001g0022 a0001c0002t0001g0023 others(32): Show a0001c0001t0001g0245 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0005g0027 a0002c0003t0001g0005 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0281 a0002c0003t0001g0283 a0003c0014t0001g0026 a0005c0007t0001g0047	36	300	0.1200	48	c.548 others(61): Show c.548+22_548+23insTGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTG CGGCTGCCCTTCTCTG	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCFL5_chr20_62836005_62866822	62839641	A A	ATGCCCTG others(41): Show ATGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	48	c.22 others(59): Show c.2286_*2333dupCCCAGGGAGAGGTGGGGTGGGTGGAGGAGAGGAG AGGGCTCCAGGGCA	TCFL5	ENSG00000101190.13	transcript	ENST00000335351.8	protein_coding		1363		chr20	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18949.hp2 NA18993.hp2 HG02004.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	376	0.0080	48	c.22 others(59): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT ATATATATATATAT	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1384		chr1	TogoVar
TCN2_chr22_30602174_30632271	30623965	C C	CACACACA others(41): Show CACACACACATATGTATATATATACACACATATATATGTATACATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0298 a0002c0002t0017g0298	1	466	0.0022	48	c.122 others(65): Show c.1222+889_1222+890insCATATGTATATATATACACACATATATA TGTATACATATATACACACA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30624051	C C	CATATATA others(41): Show CATATATATGTATACATATATATACACACATATATATGTATACATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02257.hp2 HG04115.hp2 others(2): Show HG02004.hp1 HG02257.hp2 HG04115.hp2 NA18967.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0331 a0001c0001t0003g0332 others(2): Show a0001c0001t0003g0098 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0334 a0001c0001t0003g0339	5	466	0.0107	48	c.122 others(65): Show c.1222+969_1222+970insTATATATGTATACATATATATACACACA TATATATGTATACATATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TDRD3_chr13_60392220_60578871	60541171	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20805.hp2 HG00733.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0053 a0001c0001t0006g0047 a0001c0001t0006g0053	2	272	0.0074	48	c.211 others(67): Show c.2118+5947_2118+5948insCTTTCTTTCTTTCTCTCTTTCTTTCT CTCTTTCTTTCTCTCTTTCTTT	TDRD3	ENSG00000083544.16	transcript	ENST00000377881.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	372	0.0027	48	c.766 others(65): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	206	0.0049	48	c.203 others(67): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEC_chr4_48130783_48274838	48160859	G G	GAGGAAGG others(41): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(55): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02922.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19079.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 a0001c0001 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0069 others(55): Show a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0007g0245 a0001c0001t0009g0339 a0001c0001t0009g0341 a0001c0001t0010g0258 a0001c0001t0010g0262 a0001c0001t0010g0300 a0001c0001t0014g0002 a0001c0001t0019g0057 a0001c0001t0022g0121 a0001c0006t0001g0076 a0001c0006t0001g0097 a0001c0009t0001g0081	58	346	0.1676	48	c.737 others(65): Show c.737+2842_737+2843insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	TEC	ENSG00000135605.13	transcript	ENST00000381501.8	protein_coding	8/17			chr4	TogoVar
TEKT1_chr17_6792993_6836729	6793085	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0055 a0001c0002t0009g0055	1	406	0.0025	48	c.69 others(59): Show c.6941_*6942insCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4907		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	406	0.0025	48	c.69 others(59): Show c.6939_*6940insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4905		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793087	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0020 a0001c0002t0009g0020	1	406	0.0025	48	c.69 others(59): Show c.6939_*6940insTTCTCTCTCTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4905		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10624118	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01255.hp1 NA18940.hp1 others(4): Show HG00423.hp2 HG01255.hp1 NA18940.hp1 NA18945.hp1 NA18966.hp2 NA18981.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0003t0001g0165 a0001c0003t0001g0179 a0002c0002t0001g0284	7	388	0.0180	48	c.34 others(59): Show c.3464_*3465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding		3382		chr16	TogoVar
TENM1_chrX_124370903_125209312	124974888	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	140	0.0071	48	c.-64 others(67): Show c.-64-11072_-64-11071insTATATATATATATATATATATATATA TATATATATATATATATATATA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
TENM2_chr5_166974029_168269157	167258203	A A	ATATATAT others(41): Show ATATATATATGTATATATATATGTGTATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0041 a0001c0002t0013g0041	1	54	0.0185	48	c.-74 others(67): Show c.-74-26552_-74-26551insGTATATATATATGTGTATATATATAT ATATATATATGTGTATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167431963	A A	ATATATAT others(41): Show ATATATATATATACATATATATATACATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	54	0.0185	48	c.502 others(67): Show c.502+56502_502+56503insCATATATATATACATATATATGTATA TATATATGTGTATATATATATA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167515669	G G	GTATATAT others(41): Show GTATATATATACATATATATGTATATATATACACATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03098.hp2 HG03195.hp2 others(1): Show HG02602.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0017 a0001c0001 a0001c0008 a0001c0017	a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0008t0002 a0001c0017t0002	a0001c0001t0001g0049 a0001c0001t0006g0001 a0001c0008t0002g0035 others(1): Show a0001c0001t0001g0049 a0001c0001t0006g0001 a0001c0008t0002g0035 a0001c0017t0002g0053	4	54	0.0741	48	c.502 others(69): Show c.502+140197_502+140198insATATATATACATATATATGTATAT ATATACACATATATACGTATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TESC_chr12_117033923_117104416	117075937	A A	ATATATAT others(41): Show ATATATATATATATGTGTGTGTGTATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	312	0.0032	48	c.59- others(61): Show c.59-598_59-597insCATATATATATATATATGTATATATACACACA CACATATATATATATA	TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7			chr12	TogoVar
TEX11_chrX_70523940_70913711	70577753	C C	CAGTCTCT others(41): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03579.hp1 HG01358.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0003 a0001c0001t0001g0128	2	229	0.0087	48	c.214 others(69): Show c.2140+13997_2140+13998insCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAGACT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	25/29			chrX	TogoVar
TEX15_chr8_30826544_30918008	30907443	C C	CAATGTAT others(41): Show CAATGTATATATAAATTATATACAAAATGTATATATAAATTATATACAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01099.hp2 others(38): Show HG00733.hp2 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18961.hp1 NA19064.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0003 a0008 a0014 others(3): Show a0003 a0008 a0014 a0018 a0033 a0038	a0003c0003 a0003c0009 a0003c0010 others(5): Show a0003c0003 a0003c0009 a0003c0010 a0008c0008 a0014c0018 a0018c0025 a0033c0046 a0038c0027	a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 others(8): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 a0003c0003t0012 a0003c0009t0003 a0003c0010t0001 a0008c0008t0001 a0014c0018t0001 a0018c0025t0001 a0033c0046t0001 a0038c0027t0001	a0003c0003t0001g0062 a0003c0003t0001g0066 a0003c0003t0001g0067 others(37): Show a0003c0003t0001g0062 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0003g0064 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0081 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0089 a0003c0003t0003g0093 a0003c0003t0003g0095 a0003c0003t0008g0290 a0003c0003t0008g0291 a0003c0003t0008g0292 a0003c0003t0012g0091 a0003c0009t0003g0001 a0003c0009t0003g0080 a0003c0009t0003g0092 a0003c0009t0003g0094 a0003c0010t0001g0058 a0003c0010t0001g0059 a0003c0010t0001g0060 a0003c0010t0001g0063 a0008c0008t0001g0077 a0008c0008t0001g0078 a0008c0008t0001g0079 a0008c0008t0001g0086 a0014c0018t0001g0083 a0014c0018t0001g0085 a0018c0025t0001g0065 a0033c0046t0001g0084 a0038c0027t0001g0061	41	294	0.1395	48	c.-86 others(65): Show c.-86+5435_-86+5436insTTGTATATAATTTATATATACATTTTGT ATATAATTTATATATACATT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	1/10			chr8	TogoVar
TEX15_chr8_30826544_30918008	30907443	C C	CAATGTAT others(41): Show CAATGTATATATAAATTATATACAAAATGTATATATAAATTATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01168.hp2 others(24): Show HG00738.hp2 HG01081.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02818.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA19060.hp1 NA19072.hp2 NA19084.hp2 NA21309.hp2	a0003 a0005 a0009 others(2): Show a0003 a0005 a0009 a0023 a0034	a0003c0019 a0005c0005 a0009c0011 others(2): Show a0003c0019 a0005c0005 a0009c0011 a0023c0047 a0034c0048	a0003c0019t0001 a0005c0005t0001 a0005c0005t0005 others(5): Show a0003c0019t0001 a0005c0005t0001 a0005c0005t0005 a0005c0005t0010 a0005c0005t0011 a0009c0011t0005 a0023c0047t0001 a0034c0048t0001	a0003c0019t0001g0105 a0003c0019t0001g0107 a0005c0005t0001g0002 others(23): Show a0003c0019t0001g0105 a0003c0019t0001g0107 a0005c0005t0001g0002 a0005c0005t0001g0101 a0005c0005t0001g0102 a0005c0005t0001g0110 a0005c0005t0001g0112 a0005c0005t0001g0115 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0005t0001g0119 a0005c0005t0001g0120 a0005c0005t0001g0121 a0005c0005t0001g0122 a0005c0005t0005g0103 a0005c0005t0005g0106 a0005c0005t0005g0108 a0005c0005t0005g0111 a0005c0005t0010g0003 a0005c0005t0011g0109 a0009c0011t0005g0100 a0009c0011t0005g0104 a0009c0011t0005g0113 a0009c0011t0005g0114 a0023c0047t0001g0041 a0034c0048t0001g0116	27	294	0.0918	48	c.-86 others(65): Show c.-86+5388_-86+5435dupTTATATATAATTTATATATACATTTTGT ATATAATTTATATATACATT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	1/10			chr8	TogoVar
TEX45_chr19_7492548_7513450	7495050	T T	TTCCTTCC others(41): Show TTCCTTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCTTCTCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	436	0.0023	48	c.-26 others(59): Show c.-2650_-2649insTCCTTCCCTCCTTCTCTCCCTCCCTCCTTCCCTC CTTCTCTCCCTCCC	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding		2497		chr19	TogoVar
TFB1M_chr6_155251134_155319484	155305492	A A	AATATATA others(41): Show AATATATATTAAATTATATATTTATATATATATTAAATTATATATTTAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG02559.hp2 others(2): Show HG01496.hp2 HG02258.hp2 HG02559.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0238 a0001c0002t0005g0239 others(1): Show a0001c0002t0005g0020 a0001c0002t0005g0238 a0001c0002t0005g0239 a0001c0002t0005g0240	5	348	0.0144	48	c.285 others(65): Show c.285+5648_285+5695dupATAAATATATAATTTAATATATATATAA ATATATAATTTAATATATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305548	A A	AATATATA others(41): Show AATATATATTAAATTATATATTTATATATATATTAAATTATATATTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA18522.hp1 HG02451.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042	3	348	0.0086	48	c.285 others(65): Show c.285+5592_285+5639dupATAAATATATAATTTAATATATATATAA ATATATAATTTAATATATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFEB_chr6_41678978_41740608	41738178	A A	ACATATAT others(41): Show ACATATATATATGCATATATATATGCATATATATATGCATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	406	0.0025	48	c.-28 others(59): Show c.-2899_-2852dupCATATATATATGCATATATATATGCATATATATA TGCATATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2571		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738190	G G	GCATATAT others(41): Show GCATATATATATGCATATATATATGCATATATATATGCATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	406	0.0025	48	c.-28 others(59): Show c.-2864_-2863insTATATATATATGCATATATATATGCATATATATA TGCATATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2583		chr6	TogoVar
TFEB_chr6_41678978_41740608	41738239	T T	TATATATA others(41): Show TATATATATGCATATATATATGCATATATATATATACATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	406	0.0025	48	c.-29 others(59): Show c.-2913_-2912insGTGTATATATATGTATATATATATATGCATATAT ATATGCATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2632		chr6	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19078.hp1 NA18991.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	2	430	0.0047	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp1 NA19003.hp2 others(2): Show NA18940.hp1 NA18999.hp1 NA19003.hp2 NA19060.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	5	430	0.0116	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTTTCTCTTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19088.hp2 NA19000.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0022 a0001c0002t0005g0060 a0001c0002t0003g0022 a0001c0002t0005g0060	2	430	0.0047	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTTTCTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18969.hp2 NA18993.hp2 NA18949.hp2 NA18969.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	3	430	0.0070	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTTTCTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	430	0.0023	48	c.460 others(63): Show c.460+447_460+448insCTTTCTTTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TGM2_chr20_38122385_38170270	38123844	T T	TTATATAT others(41): Show TTATATATAATATACATATACCTATTATATATATAATATACCTATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	360	0.0028	48	c.63 others(59): Show c.6374_*6375insTATAATAGGTATATTATATATATAATAGGTATAT GTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3540		chr20	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0027 a0004c0005t0001g0027	1	206	0.0049	48	c.405 others(67): Show c.4059-2319_4059-2318insTATATATATATATATATATATATATA TATATATATATATATATATATA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCCCGT others(41): Show CCCCCCGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	370	0.0027	48	c.-13 others(59): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCTT others(41): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	48	c.72 others(59): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3277		chr1	TogoVar
THOP1_chr19_2780503_2820807	2802474	A A	AACACCTC others(41): Show AACACCTCCCGACACCAACACCTCCCGACACCAACACCTCACGACACCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03669.hp2 HG04228.hp2 HG03491.hp1 HG03669.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	3	370	0.0081	48	c.590 others(65): Show c.590-2503_590-2456dupCACGACACCCACACCTCCCGACACCAAC ACCTCCCGACACCAACACCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THSD4_chr15_71110471_71788383	71510916	C C	CGTTTGGC others(41): Show CGTTTGGCGGTGTGGTCGAGTGATATTTTGAGAGGATGGATGAACTCGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0003g0022 a0001c0008t0002g0099 a0001c0001t0003g0022 a0001c0008t0002g0099	2	116	0.0172	48	c.115 others(69): Show c.1152+99116_1152+99117insATTTTGAGAGGATGGATGAACTCG TGTTTGGCGGTGTGGTCGAGTGAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar

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