JoGo: Joint Open Genome and Omics Platform

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
OR2T2_chr1_248440637_248460725	248453783	C C	CAGAGTAT others(42): Show CAGAGTATCAGCGTGGTGACTATGATCAGGAAGGACTAGTGGGGACTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp1 others(6): Show HG01109.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0010 a0003c0004 a0009c0010	a0003c0004t0007 a0003c0004t0018 a0009c0010t0043 a0003c0004t0007 a0003c0004t0018 a0009c0010t0043	a0003c0004t0007g0021 a0003c0004t0007g0118 a0003c0004t0007g0119 others(4): Show a0003c0004t0007g0021 a0003c0004t0007g0118 a0003c0004t0007g0119 a0003c0004t0007g0120 a0003c0004t0007g0121 a0003c0004t0018g0122 a0009c0010t0043g0115	9	329	0.0274	49	c.12 others(56): Show c.12_*13insGAGTATCAGCGTGGTGACTATGATCAGGAAGGACTAGT GGGGACTCCTA	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	4/4	13	INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4A5_chr11_54701832_54712902	54704720	T T	TTTTCTTT others(42): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	49	c.-21 others(60): Show c.-2165_-2164insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTC	OR4A5	ENSG00000221840.4	transcript	ENST00000319760.8	protein_coding		2111		chr11	TogoVar
OR4M1_chr14_19768504_19788696	19787251	C C	CCTTCCTT others(42): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	276	0.0036	49	c.59 others(60): Show c.5987_*5988insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTTTCTTT	OR4M1	ENSG00000176299.5	transcript	ENST00000641200.1	protein_coding		3556		chr14	TogoVar
OR5AC2_chr3_98082173_98093102	98092727	T T	TAGATTCA others(42): Show TAGATTCAGGCTTGGTCTCAGGACTTTAGTTTTCGGTTGTAAGATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	462	0.0022	49	c.46 others(60): Show c.4625_*4626insAGATTCAGGCTTGGTCTCAGGACTTTAGTTTTCG GTTGTAAGATATATG	OR5AC2	ENSG00000196578.4	transcript	ENST00000358642.2	protein_coding		4626		chr3	TogoVar
OR5H14_chr3_98142479_98161614	98160561	T T	TCTACATG others(42): Show TCTACATGTCTATGTCTTCAAGAACTATTTCAAATCCTAACTAAGTCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	430	0.0023	49	c.10 others(62): Show c.10243_*10244insCTACATGTCTATGTCTTCAAGAACTATTTCAA ATCCTAACTAAGTCTAG	OR5H14	ENSG00000236032.3	transcript	ENST00000641380.1	protein_coding		3948		chr3	TogoVar
OR6J1_chr14_22625929_22649352	22632311	T T	TAATCCCA others(42): Show TAATCCCAGCACTTTGGGAGACCGATGTGGGCAGATCACGAGTTCAGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0096 a0001c0001t0044g0096	1	362	0.0028	49	c.14 others(60): Show c.1456_*1457insCTCCTGAACTCGTGATCTGCCCACATCGGTCTCC CAAAGTGCTGGGATT	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	2/2	1456		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636225	G G	GCCCTCTC others(42): Show GCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	362	0.0028	49	c.-27 others(66): Show c.-27-1388_-27-1387insAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGGAGAGGGAGAGGGAGAGGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CCTCTCCC others(42): Show CCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	362	0.0028	49	c.-27 others(66): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6Q1_chr11_58025953_58036906	58034769	T T	TCCTTCCT others(42): Show TCCTTCCTTCCTTCCTTCTTCTTCCTTCCCTCCTCCCTTCCTTCTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	416	0.0024	49	c.28 others(60): Show c.2863_*2864insCCTTCCTTCCTTCCTTCTTCTTCCTTCCCTCCTC CCTTCCTTCTCCTTC	OR6Q1	ENSG00000279051.5	transcript	ENST00000302622.4	protein_coding		2864		chr11	TogoVar
OR8B2_chr11_124377394_124389499	124384912	G G	GGTACTTA others(42): Show GGTACTTAAAAAGAATAAAATTTAAAGAAAAATATAGATTGTAAACAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0024 a0011c0013t0001g0024	1	444	0.0023	49	c.-55 others(58): Show c.-557_-556insACTTGTTTACAATCTATATTTTTCTTTAAATTTTAT TCTTTTTAAGTAC	OR8B2	ENSG00000284680.3	transcript	ENST00000641451.2	protein_coding		414		chr11	TogoVar
OSBPL3_chr7_24791540_24985178	24917401	C C	CATATATA others(42): Show CATATATATATATATATATATATATATATATTTGTAACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	326	0.0031	49	c.-14 others(70): Show c.-149-24781_-149-24780insATATATATATATGTTACAAATATA TATATATATATATATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSMR_chr5_38841012_38940641	38862254	T T	TACCTCCC others(42): Show TACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp2 others(11): Show HG01109.hp2 HG01167.hp2 HG01169.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02922.hp1 HG04184.hp1 NA18612.hp2 NA18962.hp1 NA19066.hp1 NA19070.hp2 NA19085.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 others(5): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0038 a0004c0004t0015 a0004c0004t0036 a0005c0005t0006	a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 others(11): Show a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0193 a0001c0001t0006g0197 a0001c0001t0016g0154 a0001c0001t0016g0157 a0001c0001t0017g0153 a0001c0001t0018g0152 a0001c0001t0038g0196 a0004c0004t0015g0168 a0004c0004t0036g0169 a0005c0005t0006g0027 a0005c0005t0006g0038	14	382	0.0367	49	c.-13 others(66): Show c.-13-6767_-13-6766insAGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCC	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OTOF_chr2_26452203_26483124	26476716	C C	CCCTTCCC others(42): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	330	0.0030	49	c.435 others(64): Show c.435+174_435+175insAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31753704	A A	ATATATAT others(42): Show ATATATATATATATATTATATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	244	0.0041	49	c.-99 others(68): Show c.-99-96628_-99-96627insATATATATATATATATAATATATATA TATATATAATATATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106285864	T T	TGAATGTG others(42): Show TGAATGTGTGTCTTTATGCATCATTCCTTTGTGGACTTCCCTCCTTCTGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00609.hp2 others(49): Show HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 NA18944.hp2 NA18949.hp2 NA18960.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19079.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0002	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0028 others(49): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0002g0004 a0001c0001t0002g0080 a0001c0001t0003g0055 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0005g0095 a0001c0001t0005g0119 a0001c0001t0007g0117 a0001c0001t0008g0005 a0001c0001t0009g0030 a0001c0001t0010g0018 a0001c0002t0001g0034 a0001c0002t0001g0067 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0010t0001g0143 a0002c0003t0001g0031 a0002c0003t0001g0032 a0003c0004t0001g0029 a0003c0004t0001g0069 a0004c0006t0002g0016	52	172	0.3023	49	c.-13 others(70): Show c.-139+15513_-139+15561dupTGCATCATTCCTTTGTGGACTTCC CTCCTTCTGGGAATGTGTGTCTTTA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106285905	T T	TCCTTCTG others(42): Show TCCTTCTGGGAATGTGTGTCTTTATGCATCATTCCTTTGTGGACTTCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG03540.hp2 HG02280.hp2 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0006g0002 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0006g0002	3	172	0.0174	49	c.-13 others(70): Show c.-139+15561_-139+15562insTGCATCATTCCTTTGTGGACTTCC CCCCTTCTGGGAATGTGTGTCTTTA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	49	c.-58 others(58): Show c.-585_-584insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130818	A A	AAGAAAGA others(42): Show AAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0213 a0002c0002t0003g0213	1	366	0.0027	49	c.-21 others(60): Show c.-2153_-2152insAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2057		chr12	TogoVar
P2RX7_chr12_121127876_121193032	121130820	A A	AAGAAAGA others(42): Show AAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0007 a0015c0012t0019 a0015c0012t0007 a0015c0012t0019	a0015c0012t0007g0349 a0015c0012t0019g0350 a0015c0012t0007g0349 a0015c0012t0019g0350	2	366	0.0055	49	c.-21 others(60): Show c.-2151_-2150insAGAAAGAAAGAAAAGACAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding		2055		chr12	TogoVar
P2RY8_chrX_1457581_1542185	1459873	A A	ATGTATGT others(42): Show ATGTATGTATGTATGTATGTGTCTATCATCTATGTATGTATCTATCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	114	0.0088	49	c.56 others(60): Show c.5605_*5606insGATGGATAGATACATACATAGATGATAGACACAT ACATACATACATACA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding		2707		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1490611	G G	GGAATGAA others(42): Show GGAATGAATGAATGAATGATACCCCAGATTCACTTCTGCAAATGTAGAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	114	0.0088	49	c.-24 others(68): Show c.-24-24030_-24-24029insTCTCTACATTTGCAGAAGTGAATCTG GGGTATCATTCATTCATTCATTC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGGGAGG others(42): Show GGGGGAGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	426	0.0024	49	c.904 others(64): Show c.904-538_904-537insTCTCCCCTCCCCTCTCCCCTCCCCCTCCCT CCCCCTCCCCTCCCTCCCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PABIR2_chrX_134764566_134802205	134773613	T T	TCAAACAA others(42): Show TCAAACAAAAGCAGACTATTGTGGCTGGGGTACAGAGAGTGAAGAAAACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01261.hp1 others(32): Show HG01109.hp1 HG01243.hp1 HG01261.hp1 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0132 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0008g0023	35	217	0.1613	49	c.660 others(66): Show c.660-1331_660-1330insTGTTTTCTTCACTCTCTGTACCCCAGCC ACAATAGTCTGCTTTTGTTTG	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	9/9			chrX	TogoVar
PACS2_chr14_105309748_105403147	105330150	C C	CGAGAAGC others(42): Show CGAGAAGCCTGGGGTCCGTGTGTGGGACGGAACGGGGACAGGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04184.hp1 NA18945.hp1 others(1): Show HG03704.hp1 HG04184.hp1 NA18945.hp1 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0011 a0002c0002t0036 a0002c0002t0001 a0002c0002t0011 a0002c0002t0036	a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 others(1): Show a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 a0002c0002t0036g0018	4	210	0.0191	49	c.119 others(68): Show c.119+15161_119+15162insTGAGAAGCCTGGGGTCCGTGTGTGGG ACGGAACGGGGACAGGGAGCCTC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTTCC others(42): Show TCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02922.hp2 others(2): Show HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0053 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0053 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0002c0006t0010	a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0005g0155 others(2): Show a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0005g0155 a0001c0002t0010g0105 a0002c0006t0010g0104	5	178	0.0281	49	c.773 others(64): Show c.773+672_773+673insTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70535485	C C	CCTTCCTT others(42): Show CCTTCCTTCTCCCTCTCTTCCTCTTTCTCCGCCTCTTCCTCCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02486.hp1 others(2): Show HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 others(2): Show a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 a0001c0001t0007g0238 a0001c0001t0009g0218	5	308	0.0162	49	c.122 others(66): Show c.1227+647_1227+695dupCTTCTCCCTCTCTTCCTCTTTCTCCGCC TCTTCCTCCTTCCTCCTCTTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110098153	A A	AAGAGAGG others(42): Show AAGAGAGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG02486.hp1 others(3): Show HG01081.hp2 HG01255.hp1 HG02486.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0008 a0001c0001 a0003c0003 a0005c0008	a0001c0001t0006 a0001c0001t0011 a0003c0003t0001 others(1): Show a0001c0001t0006 a0001c0001t0011 a0003c0003t0001 a0005c0008t0026	a0001c0001t0006g0163 a0001c0001t0011g0162 a0003c0003t0001g0001 others(3): Show a0001c0001t0006g0163 a0001c0001t0011g0162 a0003c0003t0001g0001 a0003c0003t0001g0164 a0003c0003t0001g0199 a0005c0008t0026g0205	6	222	0.0270	49	c.583 others(68): Show c.583-37970_583-37969insAGGAGAGGGGAGAGGGGAGAGGGGAG AGGGGAGAGGGGAGAGGGGAGAG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	222	0.0045	49	c.583 others(64): Show c.583-962_583-961insAAAAATATATATATATATATATATATATAT ATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAM_chr5_102750305_103034716	102988607	A A	AGGGAGGA others(42): Show AGGGAGGAAAGGAAAGGAAAGGGAAAAAAAAGAAGGAAAGGAAAGGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	188	0.0053	49	c.148 others(68): Show c.1484-1638_1484-1590dupAAAAGAAGGAAAGGAAAGGGAAGGGG AGGAAAGGAAAGGAAAGGGAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAATATAT others(42): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0276 a0001c0001t0027g0276	1	416	0.0024	49	c.635 others(64): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATATATATATATT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANX1_chr11_94123841_94186968	94125547	T T	TCACTCTG others(42): Show TCACTCTGTAAAAACGGGCCAATCAGCACTCTGTAAAATGGACCAATCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(366): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0002c0002 a0002c0008 others(11): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0003c0009 a0004c0004 a0004c0014 a0005c0005 a0006c0006 a0007c0015 a0008c0013 a0009c0011 a0010c0012 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0022 a0002c0008t0003 a0003c0003t0004 a0003c0003t0016 a0003c0009t0004 a0004c0004t0004 a0004c0004t0010 a0004c0004t0012 a0004c0004t0013 a0004c0004t0018 a0004c0004t0024 a0004c0014t0004 a0005c0005t0001 a0005c0005t0003 a0005c0005t0020 a0006c0006t0003 a0007c0015t0002 a0008c0013t0009 a0009c0011t0005 a0010c0012t0003 a0011c0010t0008	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(302): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0216 a0001c0001t0002g0330 a0001c0001t0003g0013 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0328 a0001c0001t0005g0010 a0001c0001t0005g0014 a0001c0001t0005g0056 a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0070 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0006g0001 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0254 a0001c0001t0006g0256 a0001c0001t0007g0034 a0001c0001t0007g0038 a0001c0001t0007g0237 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0251 a0001c0001t0007g0253 a0001c0001t0007g0255 a0001c0001t0007g0257 a0001c0001t0008g0030 a0001c0001t0008g0225 a0001c0001t0008g0226 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0009g0020 a0001c0001t0009g0089 a0001c0001t0009g0122 a0001c0001t0009g0135 a0001c0001t0009g0139 a0001c0001t0009g0171 a0001c0001t0011g0061 a0001c0001t0011g0064 a0001c0001t0011g0068 a0001c0001t0014g0241 a0001c0001t0014g0247 a0001c0001t0014g0259 a0001c0001t0015g0222 a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0017g0054 a0001c0001t0017g0260 a0001c0001t0025g0175 a0001c0001t0026g0116 a0001c0001t0027g0154 a0001c0001t0028g0050 a0002c0002t0003g0011 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0276 a0002c0002t0003g0279 a0002c0002t0003g0282 a0002c0002t0003g0287 a0002c0002t0003g0301 a0002c0002t0003g0303 a0002c0002t0003g0317 a0002c0002t0003g0318 a0002c0002t0003g0322 a0002c0002t0005g0002 a0002c0002t0005g0290 a0002c0002t0005g0296 a0002c0002t0005g0297 a0002c0002t0005g0321 a0002c0002t0011g0269 a0002c0002t0011g0270 a0002c0002t0022g0009 a0002c0008t0003g0284 a0003c0003t0004g0003 a0003c0003t0004g0006 a0003c0003t0004g0040 a0003c0003t0004g0041 a0003c0003t0004g0043 a0003c0003t0004g0271 a0003c0003t0004g0272 a0003c0003t0004g0275 a0003c0003t0004g0278 a0003c0003t0004g0280 a0003c0003t0004g0281 a0003c0003t0004g0283 a0003c0003t0004g0285 a0003c0003t0004g0288 a0003c0003t0004g0289 a0003c0003t0004g0292 a0003c0003t0004g0293 a0003c0003t0004g0294 a0003c0003t0004g0295 a0003c0003t0004g0319 a0003c0003t0004g0320 a0003c0003t0004g0324 a0003c0003t0016g0274 a0003c0003t0016g0316 a0003c0009t0004g0291 a0004c0004t0004g0059 a0004c0004t0004g0067 a0004c0004t0004g0072 a0004c0004t0010g0008 a0004c0004t0010g0053 a0004c0004t0010g0057 a0004c0004t0010g0074 a0004c0004t0012g0106 a0004c0004t0012g0129 a0004c0004t0012g0136 a0004c0004t0012g0167 a0004c0004t0012g0188 a0004c0004t0012g0215 a0004c0004t0013g0033 a0004c0004t0013g0245 a0004c0004t0013g0258 a0004c0004t0018g0048 a0004c0004t0018g0195 a0004c0004t0024g0081 a0004c0014t0004g0268 a0005c0005t0001g0085 a0005c0005t0001g0088 a0005c0005t0001g0326 a0005c0005t0001g0327 a0005c0005t0003g0046 a0005c0005t0003g0263 a0005c0005t0003g0264 a0005c0005t0003g0265 a0005c0005t0003g0266 a0005c0005t0003g0267 a0005c0005t0020g0325 a0006c0006t0003g0012 a0006c0006t0003g0076 a0006c0006t0003g0329 a0007c0015t0002g0177 a0008c0013t0009g0141 a0009c0011t0005g0078 a0010c0012t0003g0262 a0011c0010t0008g0227	369	408	0.9044	49	c.-37 others(60): Show c.-3766_-3765insCACTCTGTAAAAACGGGCCAATCAGCACTCTGTA AAATGGACCAATCAG	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding		3293		chr11	TogoVar
PAPPA_chr9_116148791_116407321	116264173	T T	TAGAATTA others(42): Show TAGAATTATCACCAGGTGAAGTATATGCTCATTAGTCTAGATGTGGATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0025 a0002c0006t0015g0025	1	234	0.0043	49	c.273 others(68): Show c.2733-1681_2733-1633dupAATTATCACCAGGTGAAGTATATGCT CATTAGTCTAGATGTGGATAAAG	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTTTCTTT others(42): Show CTTTCTTTCCTTCTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0188 a0002c0002t0003g0188	1	284	0.0035	49	c.-27 others(68): Show c.-277+1882_-277+1883insTTCTTTCCTTCTTCTTTCTTTCTTTC TTCCTTTCTTTCTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142966772	A A	AAATGCCA others(42): Show AAATGCCACTGCAAATTTGATGTTGTTTAGTAAGGGCAGTTAGCTATCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	446	0.0022	49	c.-34 others(60): Show c.-3485_-3437dupCAGATAGCTAACTGCCCTTACTAAACAACATCAA ATTTGCAGTGGCATT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3099		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205489551	T T	TATATATA others(42): Show TATATATACATATATATGGCATATATATGTATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp2 NA19240.hp1 HG03139.hp2 HG03486.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0026 a0001c0002 a0002c0001 a0004c0026	a0001c0002t0001 a0002c0001t0001 a0004c0026t0004 a0001c0002t0001 a0002c0001t0001 a0004c0026t0004	a0001c0002t0001g0027 a0002c0001t0001g0042 a0004c0026t0004g0041 a0001c0002t0001g0027 a0002c0001t0001g0042 a0004c0026t0004g0041	3	54	0.0556	49	c.304 others(70): Show c.3045-10329_3045-10328insGGCATATATATGTATATATATACA TATATATACATATATACATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34640708	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	100	0.0100	49	c.222 others(68): Show c.222+55609_222+55610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PBDC1_chrX_76168062_76183314	76180537	G G	GTTATTTT others(42): Show GTTATTTTCTCCACCGACTCACCGCCCCCTCCCATACTGCTCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	293	0.0034	49	c.26 others(60): Show c.2629_*2630insTTATTTTCTCCACCGACTCACCGCCCCCTCCCAT ACTGCTCTGCCCCCC	PBDC1	ENSG00000102390.11	transcript	ENST00000373358.8	protein_coding		2224		chrX	TogoVar
PBX3_chr9_125742373_125972377	125779866	G G	GGGGCGGC others(42): Show GGGGCGGCTGGCCGAGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20300.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0291 a0001c0001t0001g0292	2	294	0.0068	49	c.274 others(68): Show c.274+31256_274+31257insAGCGGGGGGCTGACCCCCCCACCTCC CTCCTGGACAGGGCGGCTGGCCG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125779866	G G	GGGGCGGC others(42): Show GGGGCGGCTGGCCGGACGGGGGGCTGACCCCCCCACCTCCCTCCTGGACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02572.hp1 others(6): Show HG01109.hp2 HG02109.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 others(6): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0005g0286 a0001c0001t0011g0284 a0001c0001t0011g0285 a0001c0001t0011g0290	9	294	0.0306	49	c.274 others(68): Show c.274+31257_274+31258insACGGGGGGCTGACCCCCCCACCTCCC TCCTGGACAGGGCGGCTGGCCGG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125779866	G G	GGGGCGGC others(42): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0001 a0002c0005t0002 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0132 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0018 a0001c0001t0005g0029 a0001c0001t0005g0056 a0001c0001t0006g0257 a0001c0001t0007g0090 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0008g0035 a0001c0001t0008g0043 a0001c0001t0008g0054 a0001c0001t0008g0089 a0001c0001t0008g0109 a0001c0001t0008g0116 a0001c0001t0009g0003 a0001c0001t0009g0013 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0015g0052 a0001c0001t0016g0260 a0001c0001t0017g0111 a0001c0003t0001g0271 a0002c0005t0002g0037 a0003c0004t0001g0273	157	294	0.5340	49	c.274 others(68): Show c.274+31286_274+31287insTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP1_chr2_70082477_70094203	70091264	C C	CCTCAGAC others(42): Show CCTCAGACTTTCCTGAACCTCCTCCCCACTGCATCTTATACTGGGCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	404	0.0025	49	c.24 others(60): Show c.2450_*2451insCTCAGACTTTCCTGAACCTCCTCCCCACTGCATC TTATACTGGGCAAAG	PCBP1	ENSG00000169564.7	transcript	ENST00000303577.7	protein_coding		2062		chr2	TogoVar
PCBP3_chr21_45638725_45947450	45746675	G G	GTTGTGTC others(42): Show GTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	292	0.0034	49	c.-16 others(68): Show c.-161-8742_-161-8741insTTGTGTCAGCATCGCCGTGTCAGTCC ACTGACGTAGCGCACACGGTGTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCGF3_chr4_700832_775089	731651	C C	CTCCTCCC others(42): Show CTCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGGCGTAGGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	366	0.0027	49	c.-10 others(64): Show c.-10+541_-10+542insTCCTCCCCTCGTGGGTGGGCGTGGTCCTCA GGGGGCGTAGGGCGGGGCT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10			chr4	TogoVar
PCGF3_chr4_700832_775089	731948	C C	CCCCCTCC others(42): Show CCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0275 a0001c0001t0008g0275	1	366	0.0027	49	c.-10 others(64): Show c.-10+889_-10+937dupCCCTCCCCTCGTGGGTGGGCGTGGTCCTCA GGGGCGTAGGGCGGGGCTC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	731971	T T	TGGTCCTC others(42): Show TGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02965.hp2 HG03490.hp1 others(2): Show HG02056.hp2 HG02965.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0027 a0001c0001t0003 a0001c0001t0014 a0001c0001t0027	a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0014g0026 others(2): Show a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0027g0009	5	366	0.0137	49	c.-10 others(64): Show c.-10+909_-10+910insAGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CTCCCCTCGTGGGTGGGCG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149762550	T T	TATATATA others(42): Show TATATATATATCTATGATATATATATCTATGATATATATATATATCTATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03688.hp2 HG03831.hp2 HG00642.hp1 HG03688.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0044 a0002c0002t0002g0105 a0002c0002t0002g0106	3	334	0.0090	49	c.56- others(64): Show c.56-8572_56-8571insATATCTATGATATATATATCTATGATATAT ATATCTATGATATATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	424	0.0024	49	c.354 others(66): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19009.hp1 HG03225.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0082 a0001c0001t0001g0095	2	424	0.0047	49	c.354 others(66): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGTTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01496.hp1 others(2): Show HG01109.hp1 HG01433.hp1 HG01496.hp1 HG03491.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0020 a0001c0001t0001g0035	5	424	0.0118	49	c.354 others(66): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNT_chr21_46319156_46450769	46423697	G G	GGAGGAGG others(42): Show GGAGGAGGGGGAGGGGAGAGGGGAGGAGGAGGAAGAGAAGGGAGGGGGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG01891.hp2 HG02723.hp2	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0001 a0025c0029t0001	a0025c0029t0001g0109 a0025c0029t0001g0120 a0025c0029t0001g0109 a0025c0029t0001g0120	2	332	0.0060	49	c.717 others(68): Show c.7179+1585_7179+1586insGGGAGAGGGGAGGAGGAGGAAGAGAA GGGAGGGGGATGAGGAGGGGGAG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	32/46		INFO_REALIGN_3_PRIME	chr21	TogoVar

Search by Variant

Search

Search Results (Total: 2057 hits)