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
TRPM2_chr21_44348621_44447644	44395684	G G	GTGTGGAA others(41): Show GTGTGGAAGCTGTGAAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	44	0.0227	48	c.193 others(65): Show c.1932+139_1932+140insAGCTGTGAAGGGGTGTGGAGGGGTGTGG AGGGCTGTGGAGGATGTGGA	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRPM6_chr9_74717495_74892921	74839892	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp1 NA18522.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0035 a0005c0018 a0001c0035 a0005c0018	a0001c0035t0001 a0005c0018t0001 a0001c0035t0001 a0005c0018t0001	a0001c0035t0001g0282 a0005c0018t0001g0281 a0001c0035t0001g0282 a0005c0018t0001g0281	2	286	0.0070	48	c.544 others(63): Show c.544+131_544+132insCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCC	TRPM6	ENSG00000119121.22	transcript	ENST00000360774.6	protein_coding	5/38			chr9	TogoVar
TSPAN9_chr12_3072379_3291559	3239128	T T	TGTGAAAA others(41): Show TGTGAAAAAGAGGGAGAGAGGCAAGGCGTAGAGGGGTGCCTGGTGGGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02257.hp2 others(8): Show HG01109.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0002t0031	a0001c0001t0002g0261 a0001c0001t0008g0042 a0001c0001t0015g0035 others(8): Show a0001c0001t0002g0261 a0001c0001t0008g0042 a0001c0001t0015g0035 a0001c0001t0015g0036 a0001c0001t0015g0037 a0001c0001t0015g0067 a0001c0001t0019g0098 a0001c0001t0019g0275 a0001c0001t0022g0259 a0001c0001t0022g0262 a0001c0002t0031g0022	11	288	0.0382	48	c.63+ others(65): Show c.63+37925_63+37972dupAAAAGAGGGAGAGAGGCAAGGCGTAGAG GGGTGCCTGGTGGGTAGTGA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3269533	C C	CGTTCCTG others(41): Show CGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03130.hp2 HG06807.hp2 HG01358.hp2 HG03130.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0058 a0001c0004t0059 a0001c0004t0039 a0001c0004t0058 a0001c0004t0059	a0001c0004t0039g0285 a0001c0004t0058g0013 a0001c0004t0059g0097 a0001c0004t0039g0285 a0001c0004t0058g0013 a0001c0004t0059g0097	3	288	0.0104	48	c.64- others(63): Show c.64-8867_64-8820dupCTGTGTTCCTGCAGCCTGCCCTCTCTGTGT TCCTGCAGCCTGCCCTCT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSR1_chr17_2317396_2341457	2338774	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02273.hp2 others(5): Show HG00621.hp1 HG00673.hp2 HG02273.hp2 NA18942.hp2 NA19009.hp1 NA19065.hp2 NA19082.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0176 a0002c0002t0001g0001 a0002c0002t0001g0006 others(1): Show a0001c0001t0002g0176 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0178	8	408	0.0196	48	c.-23 others(59): Show c.-2348_-2347insATATATATATATATATATATATATATATATATAT ATATATATATATAT	TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding		2318		chr17	TogoVar
TSR1_chr17_2317396_2341457	2338774	A A	AATATGTA others(41): Show AATATGTATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	408	0.0025	48	c.-23 others(59): Show c.-2348_-2347insATATATATATATATATATATATATATATATATAT ATATATATACATAT	TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding		2318		chr17	TogoVar
TTC12_chr11_113309583_113371387	113314857	T T	TGGGGCAG others(41): Show TGGGGCAGGCTCCGCGCGGGGCTCGGGGGCAGGCTCCGCGCGGGGCTCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG02630.hp2 others(8): Show HG01099.hp1 HG02280.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03704.hp2 HG03942.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0003t0001g0220	11	344	0.0320	48	c.-16 others(63): Show c.-16+265_-16+266insGGCAGGCTCCGCGCGGGGCTCGGGGGCAGG CTCCGCGCGGGGCTCGGG	TTC12	ENSG00000149292.17	transcript	ENST00000529221.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC21B_chr2_165868362_165958776	165914691	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0394 a0004c0005t0001g0394	1	408	0.0025	48	c.213 others(65): Show c.2138+509_2138+510insGACACACACACACACACACACACACACA CACACACACACACACACACA	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	15/28			chr2	TogoVar
TTC21B_chr2_165868362_165958776	165947169	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0112 a0001c0009t0001g0112	1	408	0.0025	48	c.263 others(65): Show c.263-1480_263-1479insATATATATATATATATATATATATATAT ATATATATATATATATATAT	TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	3/28			chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18969.hp2 HG00738.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0252 a0001c0001t0001g0199 a0001c0001t0001g0252	2	324	0.0062	48	c.939 others(65): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	324	0.0031	48	c.939 others(65): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02040.hp1 others(3): Show HG00544.hp2 HG02027.hp2 HG02040.hp1 HG02738.hp2 NA18979.hp2 NA18980.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0222 a0003c0004t0001g0114	6	324	0.0185	48	c.939 others(65): Show c.939+1795_939+1796insCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32668560	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	324	0.0031	48	c.939 others(65): Show c.939+1795_939+1796insCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28625098	T T	TCAACAAT others(41): Show TCAACAATGTGAAGCTCAATGCTTTCCCACAAAGATCAGGAATGAGTAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0080 a0001c0002t0029g0080	1	196	0.0051	48	c.381 others(65): Show c.381+4406_381+4453dupTTACTCATTCCTGATCTTTGTGGGAAAG CATTGAGCTTCACATTGTTG	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28670704	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	196	0.0051	48	c.102 others(65): Show c.102+8917_102+8918insATATATATATATATATATATATATATAT ATATATATATATATATATAT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22			chr22	TogoVar
TTC29_chr4_146701617_146950864	146708308	T T	TTATATAT others(41): Show TTATATATATATATATATATACATGTATGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0005 a0005c0006t0003g0005	1	292	0.0034	48	c.133 others(65): Show c.1331-758_1331-757insTATATATATATATACACACACATACATG TATATATATATATATATATA	TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12			chr4	TogoVar
TTC38_chr22_46263008_46299008	46296723	C C	CTGTGCTG others(41): Show CTGTGCTGTGGCACAGGCGGATGGCGCTGGTGGAATTCCACAGGTGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0122 a0001c0002t0001g0123	2	232	0.0086	48	c.38 others(59): Show c.3839_*3840insTGTGCTGTGGCACAGGCGGATGGCGCTGGTGGAA TTCCACAGGTGGAA	TTC38	ENSG00000075234.17	transcript	ENST00000381031.8	protein_coding		2716		chr22	TogoVar
TTC39C_chr18_24009754_24140600	24023940	A A	ATATATAT others(41): Show ATATATATATATCTATATATATCTATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0152 a0001c0001t0008g0152	1	328	0.0031	48	c.167 others(65): Show c.167+8907_167+8908insATATATCTATATATATCTATATATATAT ATATATATATATATCTATAT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC39C_chr18_24009754_24140600	24023963	T T	TATATATA others(41): Show TATATATATACGTATATATATATATATACACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	328	0.0031	48	c.167 others(65): Show c.167+8934_167+8935insCGTATATATATATATATACACACATATA TATATATATACATATATATA	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC7B_chr14_90519564_90821430	90780470	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02630.hp2 HG00642.hp2 HG01496.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 a0001c0002 a0001c0006 a0001c0007	a0001c0002t0007 a0001c0006t0002 a0001c0007t0002 a0001c0002t0007 a0001c0006t0002 a0001c0007t0002	a0001c0002t0007g0035 a0001c0006t0002g0008 a0001c0007t0002g0088 a0001c0002t0007g0035 a0001c0006t0002g0008 a0001c0007t0002g0088	3	200	0.0150	48	c.445 others(63): Show c.445+267_445+268insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	3/19			chr14	TogoVar
TTLL10_chr1_1168880_1202936	1175832	G G	GAGAGGCT others(41): Show GAGAGGCTGCCGCTGTGCCGGTGGAGAGGCTGCCGCCGTGCAGGTGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00673.hp2 others(34): Show HG00323.hp1 HG00423.hp1 HG00673.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18971.hp1 NA18973.hp1 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19064.hp1 NA19079.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA21309.hp1	a0004 a0007 a0014 others(1): Show a0004 a0007 a0014 a0034	a0004c0004 a0004c0023 a0004c0027 others(4): Show a0004c0004 a0004c0023 a0004c0027 a0007c0007 a0014c0022 a0014c0028 a0034c0026	a0004c0004t0004 a0004c0004t0005 a0004c0023t0001 others(7): Show a0004c0004t0004 a0004c0004t0005 a0004c0023t0001 a0004c0027t0001 a0007c0007t0003 a0007c0007t0004 a0007c0007t0005 a0014c0022t0001 a0014c0028t0010 a0034c0026t0005	a0004c0004t0004g0057 a0004c0004t0005g0015 a0004c0004t0005g0044 others(30): Show a0004c0004t0004g0057 a0004c0004t0005g0015 a0004c0004t0005g0044 a0004c0004t0005g0046 a0004c0004t0005g0047 a0004c0004t0005g0048 a0004c0004t0005g0049 a0004c0004t0005g0051 a0004c0004t0005g0053 a0004c0004t0005g0054 a0004c0004t0005g0055 a0004c0004t0005g0061 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064 a0004c0004t0005g0065 a0004c0004t0005g0068 a0004c0004t0005g0154 a0004c0023t0001g0016 a0004c0027t0001g0041 a0007c0007t0003g0058 a0007c0007t0004g0050 a0007c0007t0004g0158 a0007c0007t0005g0017 a0007c0007t0005g0018 a0007c0007t0005g0042 a0007c0007t0005g0066 a0007c0007t0005g0067 a0007c0007t0005g0069 a0014c0022t0001g0045 a0014c0022t0001g0056 a0014c0028t0010g0052 a0034c0026t0005g0043	37	382	0.0969	48	c.-28 others(65): Show c.-28+1375_-28+1376insCGCCGTGCAGGTGGAAAGAGGCTGCCGC TGTGCCGGTGGAGAGGCTGC	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	198	0.0051	48	c.382 others(69): Show c.3823+11810_3823+11811insAAAAAAAAAATATATATATATATA TATATATATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL6_chr17_48757234_48822229	48810823	G G	GTATATAT others(41): Show GTATATATATATAGTACATATATACACATATATAGTATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01168.hp1 HG01169.hp1 others(5): Show HG00544.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG02135.hp1 NA18960.hp1 NA18964.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0218 a0001c0001t0001g0235 a0006c0009t0001g0157	8	330	0.0242	48	c.104 others(65): Show c.104-5833_104-5832insTATACACACACATACTATATATGTGTAT ATATGTACTATATATATATA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTLL7_chr1_83860024_84004132	83892729	C C	CACATATA others(41): Show CACATATATATGAGCACATATGTGAACATATATATGAGCGCATATGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp2 HG02486.hp1 others(7): Show HG00639.hp1 HG02056.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG03195.hp1 NA18959.hp1 NA18990.hp1 NA19002.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0002g0187 a0001c0001t0002g0194 others(7): Show a0001c0001t0001g0120 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0229 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0002t0001g0043 a0001c0002t0001g0069	10	302	0.0331	48	c.220 others(67): Show c.2209-2249_2209-2248insTCACATATGCGCTCATATATATGTTC ACATATGTGCTCATATATATGT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892729	C C	CACATATA others(41): Show CACATATATATGAGCGCATATGTGAACATATATATGAGCGCATATGTGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	302	0.0033	48	c.220 others(67): Show c.2209-2296_2209-2249dupTCACATATGCGCTCATATATATGTTC ACATATGCGCTCATATATATGT	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892742	G G	GCACATAT others(41): Show GCACATATGTGAACATATATATGAGCGCATATGTGAACATATATATGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(93): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18959.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0003t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(91): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0277 a0001c0001t0011g0035 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0013g0094 a0001c0001t0013g0097 a0001c0001t0014g0089 a0001c0001t0014g0091 a0001c0001t0018g0003 a0001c0001t0019g0064 a0001c0001t0019g0065 a0001c0001t0022g0047 a0001c0001t0031g0066 a0001c0001t0032g0107 a0001c0002t0001g0029 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0003t0001g0016 a0001c0003t0001g0052 a0001c0003t0001g0092 a0004c0009t0001g0073 a0005c0008t0001g0023	96	302	0.3179	48	c.220 others(67): Show c.2209-2262_2209-2261insTTCATATATATGTTCACATATGCGCT CATATATATGTTCACATATGTG	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892766	G G	GCGCATAT others(41): Show GCGCATATGTGAACATATATATGAACGCATATGTGAACATATATATGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(88): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0003t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(86): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0277 a0001c0001t0011g0035 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0013g0094 a0001c0001t0013g0097 a0001c0001t0014g0089 a0001c0001t0014g0091 a0001c0001t0018g0003 a0001c0001t0019g0064 a0001c0001t0019g0065 a0001c0001t0022g0047 a0001c0001t0031g0066 a0001c0001t0032g0107 a0001c0002t0001g0029 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0003t0001g0016 a0001c0003t0001g0052 a0001c0003t0001g0092 a0004c0009t0001g0073 a0005c0008t0001g0023	91	302	0.3013	48	c.220 others(67): Show c.2209-2333_2209-2286dupTTCATATATATGTTCACATATGCGTT CATATATATGTTCACATATGCG	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL7_chr1_83860024_84004132	83892816	G G	GCATATGT others(41): Show GCATATGTGAACATATATATGAACGCATATGTGAACATATATATGAACA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	302	0.0033	48	c.220 others(67): Show c.2209-2336_2209-2335insTGTTCATATATATGTTCACATATGCG TTCATATATATGTTCACATATG	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	18/20			chr1	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTTC others(41): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	264	0.0038	48	c.113 others(65): Show c.113+2914_113+2915insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(41): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	264	0.0038	48	c.113 others(65): Show c.113+2918_113+2919insCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(41): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02738.hp2 HG02809.hp2 others(1): Show HG02723.hp2 HG02738.hp2 HG02809.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0036 a0001c0001t0003g0248 a0001c0002t0001g0029 others(1): Show a0001c0001t0003g0036 a0001c0001t0003g0248 a0001c0002t0001g0029 a0001c0002t0004g0160	4	264	0.0152	48	c.113 others(65): Show c.113+2918_113+2919insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCCTTC others(41): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	264	0.0038	48	c.113 others(65): Show c.113+2918_113+2919insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890154	C C	CTTCTTTC others(41): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0167 a0001c0002t0004g0167	1	264	0.0038	48	c.113 others(65): Show c.113+2916_113+2963dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133288409	A A	AGCCAGGG others(41): Show AGCCAGGGAGCAGGCGTGAGCACGTGCCCACCCGCAGGTGCCCGCCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00738.hp2 others(27): Show HG00280.hp1 HG00438.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01261.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02145.hp2 HG02148.hp1 HG02523.hp1 HG02809.hp1 HG02897.hp2 HG03017.hp1 HG03654.hp1 HG03831.hp2 HG04204.hp1 NA18939.hp2 NA18945.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18995.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp2 NA19065.hp2 NA19087.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0006 a0001c0007 others(2): Show a0001c0002 a0001c0006 a0001c0007 a0001c0017 a0008c0018	a0001c0002t0003 a0001c0002t0008 a0001c0006t0003 others(3): Show a0001c0002t0003 a0001c0002t0008 a0001c0006t0003 a0001c0007t0003 a0001c0017t0003 a0008c0018t0003	a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0037 others(27): Show a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0037 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0008g0054 a0001c0006t0003g0167 a0001c0006t0003g0187 a0001c0007t0003g0050 a0001c0007t0003g0065 a0001c0017t0003g0034 a0008c0018t0003g0063	30	284	0.1056	48	c.154 others(65): Show c.1542-101_1542-100insCATGGCGGGCACCTGCGGGTGGGCACGT GCTCACGCCTGCTCCCTGGC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	10/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133288456	C C	CAGCCAGG others(41): Show CAGCCAGGGAGCAGGCGTGAGCACGTGCCCACCCGCAGGTGCCCGCCAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02717.hp1 others(15): Show HG02258.hp2 HG02280.hp2 HG02717.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0004t0002 a0001c0023t0001	a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0092 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0004g0101 a0001c0001t0011g0250 a0001c0004t0002g0027 a0001c0023t0001g0094	18	284	0.0634	48	c.154 others(65): Show c.1542-148_1542-147insATGGCGGGCACCTGCGGGTGGGCACGTG CTCACGCCTGCTCCCTGGCT	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	10/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133288456	C C	CGGCCAGG others(41): Show CGGCCAGGGAGCAGGCGTGAGCACGTGCCCACCCGCAGGTGCCCGCCAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 NA20129.hp2 HG02451.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0071 a0001c0002t0003g0007 a0001c0002t0003g0071	3	284	0.0106	48	c.154 others(65): Show c.1542-148_1542-147insATGGCGGGCACCTGCGGGTGGGCACGTG CTCACGCCTGCTCCCTGGCC	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	10/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292098	T T	TCCCCCGT others(41): Show TCCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	284	0.0035	48	c.121 others(65): Show c.1214+400_1214+401insTGCATGCTGCCCTCTCCCGTACAGGTAG GGCTCCCCGGGACACGGGGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP6_chr22_50212694_50250023	50228233	G G	GGCCCACC others(41): Show GGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA19063.hp2 others(1): Show HG03942.hp2 HG04115.hp1 NA19063.hp2 NA21309.hp1	a0003 a0004 a0029 a0003 a0004 a0029	a0003c0003 a0004c0004 a0029c0052 a0003c0003 a0004c0004 a0029c0052	a0003c0003t0001 a0004c0004t0001 a0029c0052t0001 a0003c0003t0001 a0004c0004t0001 a0029c0052t0001	a0003c0003t0001g0298 a0004c0004t0001g0184 a0004c0004t0001g0187 others(1): Show a0003c0003t0001g0298 a0004c0004t0001g0184 a0004c0004t0001g0187 a0029c0052t0001g0183	4	436	0.0092	48	c.129 others(65): Show c.1291-253_1291-206dupGCCCCTGGGGCAGCTGGGCTCAGATGAG AGGAAGGGTTGGTGGTGGGC	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	4/24			chr22	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(41): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	372	0.0027	48	c.138 others(67): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10820474	A A	ATATATAT others(41): Show ATATATATATATGTATATGTATATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	410	0.0024	48	c.-19 others(59): Show c.-1982_-1981insCATATACATATATATATATATATATATATACATA TACATATATATATA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1681		chr16	TogoVar
TVP23A_chr16_10761675_10823794	10820478	A A	ATATATGT others(41): Show ATATATGTATATGTATATATATATATATATATATATATATATGTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	410	0.0024	48	c.-19 others(59): Show c.-1986_-1985insCATATACATATATATATATATATATATATATATA TACATATACATATA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1685		chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870178	A A	ACACACAC others(41): Show ACACACACCACACACCCCCACACACACACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	338	0.0030	48	c.35 others(67): Show c.35+21452_*35+21453insCACACACCCCCACACACACACACCCC ACACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870207	A A	ACACCCCA others(41): Show ACACCCCATACACACCACACCCCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	338	0.0030	48	c.35 others(67): Show c.35+21477_*35+21478insCCCATACACACCACACCCCCCACACA CACCACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870361	A A	ACACCACA others(41): Show ACACCACACCCCACACACACCACACACACCACACACACCACACACCCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	338	0.0030	48	c.35 others(67): Show c.35+21631_*35+21632insCACACCCCACACACACCACACACACC ACACACACCACACACCCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870631	C C	CACACACA others(41): Show CACACACATCACATACCACACACCCGACACACGCCACACACACACCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01106.hp1 others(29): Show HG00099.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02698.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03669.hp2 HG06807.hp1 NA18961.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0101 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0002g0004 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0211 a0001c0001t0002g0264 a0001c0001t0003g0178 a0001c0001t0003g0331 a0001c0001t0003g0332	32	338	0.0947	48	c.35 others(67): Show c.35+21898_*35+21899insACACACATCACATACCACACACCCGA CACACGCCACACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871097	C C	CACACACA others(41): Show CACACACACCACACCCCATACACACCACACACCCCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	338	0.0030	48	c.35 others(67): Show c.35+22364_*35+22365insACACACACCACACCCCATACACACCA CACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(41): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18940.hp1 NA18963.hp1 others(1): Show HG02922.hp1 NA18940.hp1 NA18963.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 a0001c0001t0001 a0001c0001t0004 a0001c0001t0030	a0001c0001t0001g0110 a0001c0001t0001g0194 a0001c0001t0004g0171 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0194 a0001c0001t0004g0171 a0001c0001t0030g0169	4	264	0.0152	48	c.864 others(65): Show c.864+1069_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0274 a0001c0006t0001g0274	1	302	0.0033	48	c.243 others(65): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTCTCT others(41): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	302	0.0033	48	c.304 others(65): Show c.304+9165_304+9166insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	302	0.0033	48	c.304 others(65): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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