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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
LRRC51_chr11_72075850_72101895	72095798	CAGTAGCT others(72): Show CAGTAGCTGTGATTAAAGGCGCCTGCCACCATGACTGGCTAATTTTGTTG TTGTTGTTGTTGTTTTGAGACGGTTTCACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0089 a0001c0001t0023g0089	1	336	0.0030	-79	c.27 others(88): Show c.279_*357delAGTAGCTGTGATTAAAGGCGCCTGCCACCATGACTG GCTAATTTTGTTGTTGTTGTTGTTGTTTTGAGACGGTTTCACT	LRRC51	ENSG00000184154.16	transcript	ENST00000289488.8	protein_coding	6/6	279		chr11	TogoVar
LYAR_chr4_4262701_4295154	4294659	ATTCCTAT others(72): Show ATTCCTATAGTAAAAGTAAATTGTGTAACAGTTAATAACTGCCTAGCATC ATAACTCTGGGGGTCATTCCAAATAACTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	436	0.0023	-79	c.-48 others(90): Show c.-4810_-4732delAAAGTTATTTGGAATGACCCCCAGAGTTATGATG CTAGGCAGTTATTAACTGTTACACAATTTACTTTTACTATAGGAA	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		4506		chr4	TogoVar
MAP3K11_chr11_65592757_65619221	65596798	AGCCCTAG others(72): Show AGCCCTAGGGTATGGTGTGGGAGTGCCAGAGCCCCCATGGCAGTGTGAAG AGAATGGACAGAGGCCGAGGGAGGGACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(62): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02895.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18945.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18975.hp1 NA18980.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0017t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 others(22): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0071 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0009g0163 a0001c0002t0002g0012 a0001c0002t0002g0047 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0141 a0001c0017t0002g0161	65	392	0.1658	-79	c.14 others(90): Show c.1414_*1492delAGGGTCCCTCCCTCGGCCTCTGTCCATTCTCTTC ACACTGCCATGGGGGCTCTGGCACTCCCACACCATACCCTAGGGC	MAP3K11	ENSG00000173327.8	transcript	ENST00000309100.8	protein_coding		958		chr11	TogoVar
MARCHF4_chr2_216252865_216377483	216375986	AAAAATAA others(72): Show AAAAATAAACTTTATCTCTGAGCAGGTTAATTAACTGGATGGGATTTCAT TGCTAACAGGTGGGAAGCAATCAATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0092 a0001c0002t0048g0092	1	330	0.0030	-79	c.-58 others(90): Show c.-5805_-5727delAAAATATTGATTGCTTCCCACCTGTTAGCAATGA AATCCCATCCAGTTAATTAACCTGCTCAGAGATAAAGTTTATTTT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding		3504		chr2	TogoVar
MATN2_chr8_97864064_98041724	98001748	GATTACAG others(72): Show GATTACAGGCATGAGCCACTGTGCCTGGCCACCTTTGTCTTTTCAGGAAG AAAAATCTTTCTTGAGGGCCCCCAGTAAGC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0046 a0001c0073t0002g0046	1	318	0.0031	-79	c.120 others(98): Show c.1205-1912_1205-1834delATTACAGGCATGAGCCACTGTGCCTG GCCACCTTTGTCTTTTCAGGAAGAAAAATCTTTCTTGAGGGCCCCCAGTA AGC	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	7/18			chr8	TogoVar
MIEF2_chr17_18255662_18271552	18270102	ACAGTGCA others(72): Show ACAGTGCAGCCTTCAGTCTGTGGCAGAAGGCTCCAGGAAGCTGCTGGTGC AAGTCCCAGAGTCCAAATGCCGAAGAACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	-79	c.53 others(90): Show c.5339_*5417delCAGTGCAGCCTTCAGTCTGTGGCAGAAGGCTCCA GGAAGCTGCTGGTGCAAGTCCCAGAGTCCAAATGCCGAAGAACCT	MIEF2	ENSG00000177427.13	transcript	ENST00000323019.9	protein_coding		3551		chr17	TogoVar
MLXIPL_chr7_73588202_73629522	73600639	CGAGTGGG others(72): Show CGAGTGGGGTGGGGGCGAGAGGGGCCTAAGGCTGGGCTCCGAAAGGGGTG GGGGCGAGAGGGGCCCTAAGGGTGGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp1 HG01928.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0225 a0001c0001t0001g0163 a0001c0001t0001g0225	2	276	0.0073	-79	c.902 others(95): Show c.902-1023_902-945delAGAGCCCACCCTTAGGGCCCCTCTCGCCC CCACCCCTTTCGGAGCCCAGCCTTAGGCCCCTCTCGCCCCCACCCCACTC	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MROH2A_chr2_233773330_233838418	233787586	CATATATA others(72): Show CATATATATATTATATATTATATATATCATATATACATATATATTATATA TATTATATATATCATATATACATATATATT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp1 HG00544.hp1 HG02155.hp1	a0001 a0085 a0001 a0085	a0001c0001 a0085c0092 a0001c0001 a0085c0092	a0001c0001t0001 a0085c0092t0001 a0001c0001t0001 a0085c0092t0001	a0001c0001t0001g0306 a0085c0092t0001g0307 a0001c0001t0001g0306 a0085c0092t0001g0307	2	378	0.0053	-79	c.277 others(96): Show c.277-1902_277-1824delATTATATATTATATATATCATATATACA TATATATTATATATATTATATATATCATATATACATATATATTATATATA T	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS31_chr13_40724128_40776190	40768342	ACTTTAAG others(72): Show ACTTTAAGCTTAGCCCCCACCCCCCAACTAGGAGGGCACTGACCTCCAAC AGGCATCACCCCGCTAAATCCCCTGGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(61): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp2 HG02280.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02897.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19078.hp2 NA19084.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(45): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072	64	404	0.1584	-79	c.153 others(96): Show c.153-1388_153-1310delACTTCCAGGGGATTTAGCGGGGTGATGC CTGTTGGAGGTCAGTGCCCTCCTAGTTGGGGGGTGGGGGCTAAGCTTAAA G	MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	1/6			chr13	TogoVar
MSH2_chr2_47398156_47488223	47426917	GATGTTTG others(72): Show GATGTTTGTTTATAGCCCCATTGATGGGGCTATAAACTTGGCAGCAAATT GTTTTCCCACTAATTTGGCATTTTCCATAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0014 a0002c0003 a0002c0019 a0003c0005 a0005c0008 a0007c0013 a0009c0016 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0001 a0001c0014t0001 a0002c0003t0001 a0002c0003t0002 a0002c0019t0001 a0003c0005t0001 a0005c0008t0001 a0007c0013t0001 a0009c0016t0001 a0011c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(238): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0170 a0001c0001t0002g0258 a0001c0001t0003g0262 a0001c0002t0001g0005 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0228 a0001c0002t0001g0367 a0001c0006t0001g0128 a0001c0006t0001g0144 a0001c0006t0001g0222 a0001c0007t0001g0101 a0001c0007t0001g0102 a0001c0007t0001g0103 a0001c0009t0001g0274 a0001c0009t0001g0275 a0001c0012t0001g0245 a0001c0014t0001g0224 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0252 a0002c0003t0001g0257 a0002c0003t0002g0171 a0002c0019t0001g0253 a0003c0005t0001g0173 a0003c0005t0001g0221 a0003c0005t0001g0247 a0005c0008t0001g0211 a0005c0008t0001g0212 a0007c0013t0001g0213 a0009c0016t0001g0168 a0011c0011t0001g0243	241	370	0.6514	-79	c.107 others(98): Show c.1077-2744_1077-2666delTGTTTGTTTATAGCCCCATTGATGGG GCTATAAACTTGGCAGCAAATTGTTTTCCCACTAATTTGGCATTTTCCAT AAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MX1_chr21_41421239_41464212	41449759	GGGCACCA others(72): Show GGGCACCATCCTCATGGCACAGAGATGTGGTCATCAACCAGGGAGCTCTT GGAACCTCACCGCGGAGAAGGTTTTATGGA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0087 a0002c0009t0001g0087	1	408	0.0025	-79	c.143 others(96): Show c.1432+468_1432+546delACCATCCTCATGGCACAGAGATGTGGTC ATCAACCAGGGAGCTCTTGGAACCTCACCGCGGAGAAGGTTTTATGGAGG C	MX1	ENSG00000157601.15	transcript	ENST00000398598.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr21	TogoVar
MYBPC2_chr19_50427892_50471321	50457363	AACCCAAG others(72): Show AACCCAAGACAGAAGGGCATGTAACGAAAAGCAGGCAATCTGAAGAGCTC TGACCCTGCCCTCAGCCCGCCTTCCCAGAC	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	396	0.0025	-79	c.233 others(98): Show c.2339-1218_2339-1140delAGACAGAAGGGCATGTAACGAAAAGC AGGCAATCTGAAGAGCTCTGACCCTGCCCTCAGCCCGCCTTCCCAGACAC CCA	MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYO16_chr13_108624611_109213005	108849769	CCCTAGAC others(72): Show CCCTAGACTGCCTTCCTCCAAATCCTGTTGAATTTCCTCTTTTTTTGTGT GTGTAACTTATCCATACTGGATTATTTGCA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0103 a0008c0023t0001g0103	1	152	0.0066	-79	c.124 others(98): Show c.1248+5322_1248+5400delGTGTGTGTAACTTATCCATACTGGAT TATTTGCACCTAGACTGCCTTCCTCCAAATCCTGTTGAATTTCCTCTTTT TTT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYOF_chr10_93301429_93487334	93335781	CCTAGGCC others(72): Show CCTAGGCCTATATAGAAAATGCCAGCATCCCTCAGAGGCTGCAGGATGTG CCCCTCCCTAGAGCCTGGTTGTCCTTTATT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0003 a0001c0050t0003	a0001c0050t0003g0227 a0001c0050t0003g0227	1	240	0.0042	-79	c.456 others(95): Show c.4563+61_4563+139delAATAAAGGACAACCAGGCTCTAGGGAGGG GCACATCCTGCAGCCTCTGAGGGATGCTGGCATTTTCTATATAGGCCTAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	41/53			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2085759	AGTCGTGA others(72): Show AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTGCGTGGCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18971.hp1 HG00639.hp2 NA18971.hp1	a0024 a0032 a0024 a0032	a0024c0055 a0032c0072 a0024c0055 a0032c0072	a0024c0055t0001 a0032c0072t0002 a0024c0055t0001 a0032c0072t0002	a0024c0055t0001g0170 a0032c0072t0002g0028 a0024c0055t0001g0170 a0032c0072t0002g0028	2	403	0.0050	-79	c.164 others(96): Show c.1644+393_1644+471delTACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085827	CGTGGCCC others(72): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0020 a0038 a0020 a0038	a0020c0027 a0038c0132 a0020c0027 a0038c0132	a0020c0027t0001 a0038c0132t0001 a0020c0027t0001 a0038c0132t0001	a0020c0027t0001g0091 a0038c0132t0001g0074 a0020c0027t0001g0091 a0038c0132t0001g0074	2	403	0.0050	-79	c.164 others(96): Show c.1644+446_1644+524delACTGTCGTGATCTCTTTGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085858	CCCCCACT others(72): Show CCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0289 a0004c0007t0001g0289	1	403	0.0025	-79	c.164 others(96): Show c.1644+478_1644+556delTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTG T	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085895	CGTGATCT others(72): Show CGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACT GTCGTGATCTCTTTGTGGCCCCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0236 a0004c0007t0001g0236	1	403	0.0025	-79	c.164 others(96): Show c.1644+515_1644+593delTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC T	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085933	CGTGGCCC others(72): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG01346.hp2 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0118 a0002c0034 a0001c0118 a0002c0034	a0001c0118t0002 a0002c0034t0001 a0001c0118t0002 a0002c0034t0001	a0001c0118t0002g0320 a0002c0034t0001g0384 a0001c0118t0002g0320 a0002c0034t0001g0384	2	403	0.0050	-79	c.164 others(96): Show c.1644+552_1644+630delACTGTCGTGATCTCTTTGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NARF_chr17_82453741_82495537	82466836	CTCTCTTA others(72): Show CTCTCTTATATATTGATAGATGTGCATCCATTTGTTTCTTTTTTTTCGGC CTTCACCATGTTGGCCAGGCTGGTCTTGAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	356	0.0028	-79	c.253 others(96): Show c.253-1926_253-1848delCTCTTATATATTGATAGATGTGCATCCA TTTGTTTCTTTTTTTTCGGCCTTCACCATGTTGGCCAGGCTGGTCTTGAA T	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NEMP2_chr2_190499338_190539722	190534838	GCGGCCTC others(72): Show GCGGCCTCGGGGCACGGCGGGCCCAGGCCGGAGGAGCTTTCGGTGGCGCG ACCCCGCTGGCATGCTCCCGGCCTCGGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	1	404	0.0025	-79	c.-26 others(88): Show c.-262_-184delAGGCCGAGGCCGGGAGCATGCCAGCGGGGTCGCGCC ACCGAAAGCTCCTCCGGCCTGGGCCCGCCGTGCCCCGAGGCCG	NEMP2	ENSG00000189362.12	transcript	ENST00000409150.8	protein_coding		117		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807339	TCCCCCCT others(72): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCAC GCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 NA18980.hp1 NA19000.hp1 HG01261.hp2 NA18980.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0015 a0001c0002 a0001c0004 a0001c0015	a0001c0002t0001 a0001c0004t0001 a0001c0015t0001 a0001c0002t0001 a0001c0004t0001 a0001c0015t0001	a0001c0002t0001g0079 a0001c0004t0001g0067 a0001c0015t0001g0052 a0001c0002t0001g0079 a0001c0004t0001g0067 a0001c0015t0001g0052	3	319	0.0094	-79	c.-19 others(90): Show c.-1938_-1860delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCT TCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1853		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807697	TCCCCCCT others(72): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	319	0.0031	-79	c.-15 others(90): Show c.-1580_-1502delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1495		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807939	TCCCCCCT others(72): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	319	0.0031	-79	c.-13 others(90): Show c.-1338_-1260delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1253		chr2	TogoVar
NFIC_chr19_3361583_3474217	3455525	GTAGGATC others(72): Show GTAGGATCCACTCAGGGCTCAGTGGGATTATGCCCAGAGCCTGGTATACA ATAGACACTTAATAGATGCAGGATACTGCT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0028 a0001c0001t0032g0028	1	300	0.0033	-79	c.142 others(97): Show c.1424-1005_1424-927delAGTGGGATTATGCCCAGAGCCTGGTAT ACAATAGACACTTAATAGATGCAGGATACTGCTTAGGATCCACTCAGGGC TC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGB_chr14_77260483_77276206	77269723	TCTCTTCT others(72): Show TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTCTCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	366	0.0027	-79	c.90- others(92): Show c.90-476_90-398delGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269725	TCTTCTCT others(72): Show TCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCCCTCTCCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02451.hp2 HG02683.hp1 others(2): Show HG00621.hp1 HG02451.hp2 HG02683.hp1 HG03239.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0011 a0007c0008t0001 a0001c0001t0001 a0001c0001t0011 a0007c0008t0001	a0001c0001t0001g0028 a0001c0001t0001g0190 a0001c0001t0011g0064 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0190 a0001c0001t0011g0064 a0007c0008t0001g0191	5	366	0.0137	-79	c.90- others(92): Show c.90-478_90-400delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NOX4_chr11_89319353_89496375	89438792	GTATAATA others(72): Show GTATAATATATTATATATTATATATATTATATAATATCTTATATATTATA TATATTATATAATATATTATATATTATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02622.hp1 others(11): Show HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 others(9): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 a0001c0001t0031 a0001c0001t0048 a0001c0001t0049 a0001c0001t0079 a0001c0002t0011 a0001c0002t0029 a0001c0002t0030 a0001c0002t0033 a0002c0004t0032	a0001c0001t0002g0252 a0001c0001t0017g0160 a0001c0001t0024g0155 others(11): Show a0001c0001t0002g0252 a0001c0001t0017g0160 a0001c0001t0024g0155 a0001c0001t0031g0176 a0001c0001t0031g0177 a0001c0001t0048g0044 a0001c0001t0049g0043 a0001c0001t0079g0169 a0001c0002t0011g0156 a0001c0002t0029g0168 a0001c0002t0030g0159 a0001c0002t0033g0262 a0002c0004t0032g0144 a0002c0004t0032g0162	14	288	0.0486	-79	c.475 others(96): Show c.475+1817_475+1895delTATATAATATATAATATATTATATAATA TATATAATATATAAGATATTATATAATATATATAATATATAATATATTAT A	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17			chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978632	GTCAGCCC others(72): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGCCCGGCCAGCCGCCCCATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	406	0.0025	-79	c.48 others(90): Show c.4834_*4912delGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1943		chr11	TogoVar
OAS2_chr12_112973519_113016723	112978286	CAGTTTTG others(72): Show CAGTTTTGGTTTCCCTGCTGGGGTGCAGGAGTCAGTAAACCTTGCTGCAA GGGGCGGGGAAGAGCATTTGAGCTTAAGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02717.hp1 others(1): Show HG01891.hp1 HG02647.hp2 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0003 a0001c0014t0003 a0001c0004t0003 a0001c0014t0003	a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 others(1): Show a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0014t0003g0120	4	380	0.0105	-79	c.-32 others(88): Show c.-322_-244delAGTTTTGGTTTCCCTGCTGGGGTGCAGGAGTCAGTA AACCTTGCTGCAAGGGGCGGGGAAGAGCATTTGAGCTTAAGTT	OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding		232		chr12	TogoVar
OCLN_chr5_69487790_69563104	69515446	CGGGCAGA others(72): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	290	0.0035	-79	c.891 others(96): Show c.891+1340_891+1418delGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG G	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OPCML_chr11_132409981_133537501	133518651	GTGGCGTG others(72): Show GTGGCGTGGGCAGTGGCAGGTGCTGGTGTGTGTGGGGCTGTGGCGTGGGC AGTGGCAGGTGCTGGTGTGTGTGGGGCTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0047 a0001c0001t0028g0059 a0001c0001t0001g0047 a0001c0001t0028g0059	2	68	0.0294	-79	c.61+ others(96): Show c.61+13534_61+13612delACAGCCCCACACACACCAGCACCTGCCA CTGCCCACGCCACAGCCCCACACACACCAGCACCTGCCACTGCCCACGCC A	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31812719	AAAGAAAG others(72): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02109.hp2 others(4): Show HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02717.hp2 HG03471.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0020 a0001c0001 a0001c0006 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0006t0002 a0003c0020t0001	a0001c0001t0001g0147 a0001c0001t0002g0097 a0001c0001t0002g0140 others(4): Show a0001c0001t0001g0147 a0001c0001t0002g0097 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0006g0186 a0001c0006t0002g0081 a0003c0020t0001g0010	7	186	0.0376	-79	c.729 others(98): Show c.729+17242_729+17320delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL5_chr11_3082107_3170310	3103744	AACCCTCT others(72): Show AACCCTCTTCCAGCTCTGCAGCCCCCTTCCAGCCTCTGCAGTCCCTTCCT GCCTCTGCAGCCCTCTTCCTGCCTGCGCAG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	326	0.0031	-79	c.124 others(96): Show c.1244+370_1245-425delCTGCGCAGGCAGGAAGAGGGCTGCAGAG GCAGGAAGGGACTGCAGAGGCTGGAAGGGGGCTGCAGAGCTGGAAGAGGG T	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510705	AACATACA others(72): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0186	1	244	0.0041	-79	c.894 others(96): Show c.894-6966_894-6888delATGTTACATATAGATATACATATGTATG TTACATATAGATATACATATGTATGTTACATATAGATATACATATGTATG T	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PDE11A_chr2_177618244_178077777	177946524	CCGCCCGG others(72): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(10): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02486.hp2 HG02809.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA19010.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0002c0034	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0003t0023 a0001c0003t0051 a0001c0005t0047 a0001c0005t0064 a0001c0009t0016 a0001c0009t0062 a0001c0010t0008 a0002c0034t0006	a0001c0001t0002g0079 a0001c0001t0005g0060 a0001c0001t0005g0062 others(10): Show a0001c0001t0002g0079 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0003t0023g0091 a0001c0003t0051g0092 a0001c0005t0047g0018 a0001c0005t0064g0016 a0001c0009t0016g0011 a0001c0009t0062g0008 a0001c0010t0008g0061 a0002c0034t0006g0169	13	170	0.0765	-79	c.107 others(100): Show c.1072-41416_1072-41338delAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDZRN4_chr12_41183320_41579745	41402452	CACACTCT others(72): Show CACACTCTGTGTGTATATATATATATACACACAGGGTGTATATATATATA TATATACGCTGTGTGTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02895.hp1 others(1): Show HG02055.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0001c0010 a0002c0002	a0001c0010t0001 a0002c0002t0001 a0001c0010t0001 a0002c0002t0001	a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 others(1): Show a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 a0002c0002t0001g0099	4	206	0.0194	-79	c.844 others(100): Show c.844-104001_844-103923delACTCTGTGTGTATATATATATATA CACACAGGGTGTATATATATATATATATACGCTGTGTGTATATATATATA TATAC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196215	ATATATGT others(72): Show ATATATGTCATATATAATTTAATTATATGTCATATTTAATTATATATGTC ATAATTTATATATGTCATATATAATTTAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(5): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0225 a0001c0001t0008g0226 a0001c0001t0008g0004 a0001c0001t0008g0225 a0001c0001t0008g0226	8	428	0.0187	-79	c.449 others(96): Show c.449-2768_449-2690delGTCATATTTAATTATATATGTCATAATT TATATATGTCATATATAATTTAATTATATGTCATATATAATTTAATTATA T	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196726	TATAATGT others(72): Show TATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGT CACATATAATGTAATAATTATATATGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01106.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	428	0.0047	-79	c.449 others(96): Show c.449-2202_449-2124delATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACAT A	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PI3_chr20_45169902_45181544	45177339	GGAGGGGA others(72): Show GGAGGGGAGCAGCCTGGGTGAAGGGGAATAAGCACAGGCTTGACAGTCAG GTGATCTCAGCACTGGCTTTGCCTCCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	426	0.0024	-79	c.97 others(89): Show c.972_*1050delGAGGGGAGCAGCCTGGGTGAAGGGGAATAAGCACA GGCTTGACAGTCAGGTGATCTCAGCACTGGCTTTGCCTCCCCAC	PI3	ENSG00000124102.5	transcript	ENST00000243924.4	protein_coding		796		chr20	TogoVar
PINX1_chr8_10759961_10844875	10805898	GGGTGACA others(72): Show GGGTGACAGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGACGGA GCACAGGAAGGGGCCACACTAGTGCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0087 a0001c0006t0001g0087	1	352	0.0028	-79	c.471 others(98): Show c.471+14216_471+14294delACTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGTC ACC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PKD2L1_chr10_100283149_100335228	100314965	AGGAAGGA others(72): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01099.hp1 others(23): Show HG00621.hp1 HG00642.hp1 HG01099.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03225.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18959.hp2 NA18998.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0017	a0001c0001 a0002c0003 a0002c0009 others(5): Show a0001c0001 a0002c0003 a0002c0009 a0002c0018 a0003c0004 a0003c0011 a0012c0033 a0017c0023	a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 others(5): Show a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 a0002c0018t0001 a0003c0004t0001 a0003c0011t0001 a0012c0033t0001 a0017c0023t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(23): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0002c0003t0001g0092 a0002c0003t0001g0120 a0002c0003t0001g0166 a0002c0003t0001g0171 a0002c0003t0001g0207 a0002c0009t0001g0112 a0002c0009t0001g0267 a0002c0009t0001g0286 a0002c0018t0001g0030 a0003c0004t0001g0061 a0003c0004t0001g0086 a0003c0004t0001g0170 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0248 a0003c0011t0001g0023 a0012c0033t0001g0304 a0017c0023t0001g0129	26	306	0.0850	-79	c.349 others(98): Show c.349+14167_349+14245delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109383133	TATTATTG others(72): Show TATTATTGTATATATTATATATATTTATATATAATATATACAATAATATA TATAATTATATATAATTATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	282	0.0036	-79	c.417 others(94): Show c.417+563_417+641delATTATTGTATATATTATATATATTTATATA TAATATATACAATAATATATATAATTATATATAATTATATATTATATAA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	4/77			chr8	TogoVar
PKP3_chr11_389209_409908	401628	CGGCCCCG others(72): Show CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	216	0.0046	-79	c.173 others(97): Show c.1737+925_1737+1003delGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB3_chr11_64246530_64272923	64270898	GAGACACA others(72): Show GAGACACACACACACACACACACACACACACACACGCCTGGAGTGGGATC TAGACTACAGATCCCAGCATGCCCTGTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01070.hp2 others(18): Show HG00099.hp2 HG00323.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG02293.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 HG03492.hp2 HG03942.hp1 HG04228.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0021 a0001c0003 a0001c0016 a0001c0021	a0001c0003t0001 a0001c0003t0003 a0001c0016t0001 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0016t0001 a0001c0021t0001	a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0018 others(7): Show a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0018 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0087 a0001c0003t0001g0102 a0001c0003t0003g0007 a0001c0016t0001g0002 a0001c0021t0001g0142	21	382	0.0550	-79	c.33 others(90): Show c.3343_*3421delAGACACACACACACACACACACACACACACACAC GCCTGGAGTGGGATCTAGACTACAGATCCCAGCATGCCCTGTGAC	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding		2976		chr11	TogoVar
POR_chr7_75910155_75991855	75988902	GGGTGTGT others(72): Show GGGTGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGGGGAAGGCCGGGTGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0270 a0001c0004t0001g0270	1	278	0.0036	-79	c.24 others(90): Show c.2422_*2500delGGTGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGG AGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2048		chr7	TogoVar
PPP2R5A_chr1_212280410_212366853	212349621	TTTGTTTT others(72): Show TTTGTTTTTAATAATAGAATTTTTGCCACTCATTAACAATAAACCACTTG ATAGGGATAGAAAACATTTCCTTGCTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0358 a0001c0001t0004g0358	1	384	0.0026	-79	c.927 others(94): Show c.927+380_927+458delTTGTTTTTAATAATAGAATTTTTGCCACTC ATTAACAATAAACCACTTGATAGGGATAGAAAACATTTCCTTGCTTTTG	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	8/12			chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101776213	AAAATAAT others(72): Show AAAATAATTTCCCATCATTAAGCCAGACATCAAGAGGCCAAAGTAAATTC TAGGTCATCTCTCCCCTCACTGAGTGAGTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	138	0.0073	-79	c.94- others(94): Show c.94-9804_94-9726delAAATAATTTCCCATCATTAAGCCAGACATC AAGAGGCCAAAGTAAATTCTAGGTCATCTCTCCCCTCACTGAGTGAGTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PRDM15_chr21_41793225_41884344	41806255	CCATCACC others(72): Show CCATCACCACCACCCATCACCACCACCACCATCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0009 a0001c0058 a0001c0009 a0001c0058	a0001c0009t0008 a0001c0058t0042 a0001c0009t0008 a0001c0058t0042	a0001c0009t0008g0296 a0001c0058t0042g0068 a0001c0009t0008g0296 a0001c0058t0042g0068	2	406	0.0049	-79	c.265 others(98): Show c.2653-1720_2653-1642delATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGGTGGTGGTG ATG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3110376	CGGCTCCC others(72): Show CGGCTCCCCCATGTCCTGGGTGTGGGGACACAGTGTCTGAGGCTCCCCCA TGTCCTGGGTGTGCAGACACAGTGCTCAGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp2 others(54): Show HG00280.hp1 HG00558.hp2 HG00597.hp2 HG01109.hp1 HG01123.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18943.hp1 NA18966.hp1 NA18990.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0001c0022 a0002c0003 a0002c0007 a0002c0030 a0003c0005 a0004c0010 a0005c0018 a0008c0027 a0009c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0035 a0001c0001t0043 a0001c0001t0056 a0001c0001t0076 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0032 a0001c0002t0061 a0001c0002t0062 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0055 a0001c0004t0081 a0001c0006t0011 a0001c0006t0013 a0001c0006t0039 a0001c0008t0001 a0001c0008t0040 a0001c0008t0085 a0001c0009t0074 a0001c0013t0001 a0001c0017t0054 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0013 a0002c0007t0001 a0002c0007t0002 a0002c0030t0047 a0003c0005t0001 a0004c0010t0026 a0005c0018t0012 a0008c0027t0078 a0009c0028t0015	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0203 others(54): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0203 a0001c0001t0003g0049 a0001c0001t0005g0184 a0001c0001t0007g0054 a0001c0001t0012g0129 a0001c0001t0014g0069 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0020g0105 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0035g0194 a0001c0001t0043g0060 a0001c0001t0056g0204 a0001c0001t0076g0170 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0121 a0001c0002t0001g0208 a0001c0002t0003g0120 a0001c0002t0005g0186 a0001c0002t0018g0085 a0001c0002t0032g0192 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0084g0138 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0130 a0001c0004t0055g0004 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0040g0021 a0001c0008t0085g0003 a0001c0009t0074g0117 a0001c0013t0001g0104 a0001c0017t0054g0134 a0001c0022t0057g0139 a0002c0003t0001g0018 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0128 a0002c0003t0007g0103 a0002c0003t0013g0137 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0030t0047g0206 a0003c0005t0001g0172 a0004c0010t0026g0122 a0005c0018t0012g0030 a0008c0027t0078g0082 a0009c0028t0015g0209	57	210	0.2714	-79	c.37+ others(96): Show c.37+41198_37+41276delAGGCTCCCCCATGTCCTGGGTGTGCAGA CACAGTGCTCAGGGGCTCCCCCATGTCCTGGGTGTGGGGACACAGTGTCT G	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)