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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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KANK1_chr9_499695_751103	707868	GTTTCAGA others(335): Show GTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAATTTCAGACAGTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0001 a0023c0038t0001	a0023c0038t0001g0011 a0023c0038t0001g0011	1	254	0.0039	-342	c.38- others(15): Show c.38-2879_38-2538del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC128462377_chr16_89312046_89423292	89400335	ACGGTCAT others(335): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCT GCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGC TTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTG GGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG02723.hp2 others(7): Show HG01167.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03130.hp2 HG03486.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0041 a0001c0001t0000g0045 a0001c0001t0000g0238 others(7): Show a0001c0001t0000g0041 a0001c0001t0000g0045 a0001c0001t0000g0238 a0001c0001t0000g0239 a0001c0001t0000g0240 a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 a0001c0001t0000g0365 a0001c0001t0000g0366	10	366	0.0273	-342	c.9+1 others(15): Show c.9+17607_9+17948del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400412	CGGTCATC others(335): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0023 a0001c0001t0000g0025 a0001c0001t0000g0023 a0001c0001t0000g0025	2	366	0.0055	-342	c.9+1 others(15): Show c.9+17530_9+17871del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
MARCHF2_chr19_8408305_8444017	8419709	GGGAGGCT others(335): Show GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAG TGAGCTGAGATCAGGCCACTGCACTCCAGCCTGGGCGAAAGAGCAAGACT CCGTCTCAAAAAAAAAATAAATAAATAAATAAATAAAAATAAAAAATAAA AATAAAAATAAAAATAATTGCCGGGCGCAGTGGCTCACACCTGTAATCCT AGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGATGGAGA TCATCCTGGCTAACATGGTGAAACCCCGTCTGTACTAAAAATTCAAAAAA TTAGCCGGGTGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(5): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG03098.hp1 HG03130.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0029 a0004c0004t0010 a0004c0004t0013	a0001c0001t0003g0352 a0001c0001t0003g0379 a0001c0001t0013g0383 others(5): Show a0001c0001t0003g0352 a0001c0001t0003g0379 a0001c0001t0013g0383 a0001c0001t0029g0382 a0004c0004t0010g0385 a0004c0004t0010g0386 a0004c0004t0013g0381 a0004c0004t0013g0384	8	392	0.0204	-342	c.-52 others(17): Show c.-52-2068_-52-1727del		MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
MLPH_chr2_237482251_237560322	237544805	GGGGGACA others(335): Show GGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGT TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAG TCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTG AGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGG TGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAA TTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0229	1	286	0.0035	-342	c.154 others(19): Show c.1540-1772_1540-1431del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC20_chr3_195715978_195738551	195725120	TCCTCAGA others(335): Show TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCC GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00673.hp2 HG00733.hp1 HG00733.hp2 others(6): Show HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG02083.hp2 HG02886.hp1 NA18952.hp1 NA18972.hp1	a0000 a0015 a0054 a0000 a0015 a0054	a0000c0013 a0000c0026 a0000c0029 others(3): Show a0000c0013 a0000c0026 a0000c0029 a0000c0032 a0015c0020 a0054c0035	a0000c0013t0003 a0000c0026t0004 a0000c0029t0004 others(4): Show a0000c0013t0003 a0000c0026t0004 a0000c0029t0004 a0000c0032t0003 a0015c0020t0001 a0015c0020t0002 a0054c0035t0002	a0000c0013t0003g0001 a0000c0026t0004g0103 a0000c0029t0004g0102 others(4): Show a0000c0013t0003g0001 a0000c0026t0004g0103 a0000c0029t0004g0102 a0000c0032t0003g0012 a0015c0020t0001g0015 a0015c0020t0002g0043 a0054c0035t0002g0021	9	185	0.0487	-342	c.544 others(7): Show c.544_885del	p.Ser others(13): Show p.Ser182_Asp295del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	574/2493	544/2130	182/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725147	AGCCCCCA others(335): Show AGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTC TTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCA GCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCA GAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACG GGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCC CGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTC ATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18944.hp1 NA18959.hp2 NA18965.hp1 others(5): Show NA18944.hp1 NA18959.hp2 NA18965.hp1 NA18980.hp2 NA18981.hp1 NA18992.hp1 NA18993.hp1 NA19086.hp2	a0005 a0044 a0005 a0044	a0005c0007 a0044c0048 a0005c0007 a0044c0048	a0005c0007t0002 a0044c0048t0002 a0005c0007t0002 a0044c0048t0002	a0005c0007t0002g0003 a0005c0007t0002g0098 a0044c0048t0002g0003 a0005c0007t0002g0003 a0005c0007t0002g0098 a0044c0048t0002g0003	8	185	0.0432	-342	c.719 others(8): Show c.719_1060del	p.Pro others(13): Show p.Pro240_Gly353del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	749/2493	719/2130	240/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725322	CCCATCCA others(335): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGC CTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCC TCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTC ACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCA CCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01123.hp1 HG01975.hp2 HG02293.hp2 others(3): Show HG01123.hp1 HG01975.hp2 HG02293.hp2 HG03098.hp2 HG03490.hp1 NA19043.hp1	a0009 a0020 a0009 a0020	a0009c0010 a0020c0017 a0009c0010 a0020c0017	a0009c0010t0002 a0020c0017t0002 a0009c0010t0002 a0020c0017t0002	a0009c0010t0002g0009 a0009c0010t0002g0020 a0009c0010t0002g0099 others(2): Show a0009c0010t0002g0009 a0009c0010t0002g0020 a0009c0010t0002g0099 a0020c0017t0002g0104 a0020c0017t0002g0108	6	185	0.0324	-342	c.852 others(8): Show c.852_1193del	p.Ser others(13): Show p.Ser285_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	882/2493	852/2130	284/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYMK_chr9_133509586_133529959	133514088	TAAGCAGT others(335): Show TAAGCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(447): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 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.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.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 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.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 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.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 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.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 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.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 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0002c0006t0001 a0003c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(201): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0003g0111 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0003t0001g0114 a0001c0003t0002g0017 a0001c0004t0001g0120 a0001c0004t0001g0134 a0001c0004t0002g0048 a0002c0006t0001g0207 a0003c0005t0002g0051	450	456	0.9868	-342	c.20 others(9): Show c.206_*547del		MYMK	ENSG00000187616.5	transcript	ENST00000339996.4	protein_coding					497		chr9	TogoVar
NFATC1_chr18_79390930_79534323	79505171	CGTGGGAG others(335): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGAGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGA TGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02109.hp2 HG02559.hp1 others(6): Show HG00408.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0013	a0001c0001t0006 a0001c0005t0005 a0001c0005t0011 others(6): Show a0001c0001t0006 a0001c0005t0005 a0001c0005t0011 a0001c0006t0048 a0001c0008t0012 a0001c0008t0046 a0001c0010t0004 a0001c0013t0025 a0001c0013t0056	a0001c0001t0006g0104 a0001c0005t0005g0055 a0001c0005t0011g0134 others(6): Show a0001c0001t0006g0104 a0001c0005t0005g0055 a0001c0005t0011g0134 a0001c0006t0048g0049 a0001c0008t0012g0009 a0001c0008t0046g0284 a0001c0010t0004g0289 a0001c0013t0025g0046 a0001c0013t0056g0110	9	322	0.0280	-342	c.278 others(21): Show c.2782+18365_2782+18706del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505342	CGTGGGAG others(335): Show CGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGAGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGAT GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTT GGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGA GACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGG TGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp1 HG03098.hp1 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0031 a0001c0005 a0005c0031	a0001c0005t0005 a0005c0031t0004 a0001c0005t0005 a0005c0031t0004	a0001c0005t0005g0111 a0005c0031t0004g0011 a0001c0005t0005g0111 a0005c0031t0004g0011	2	322	0.0062	-342	c.278 others(21): Show c.2782+18419_2782+18760del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NXN_chr17_794310_984776	942594	AACACCTT others(335): Show AACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00733.hp1 others(42): Show HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp2 HG03453.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18971.hp2 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19070.hp2 NA19088.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0027 a0001c0002t0032 a0001c0003t0001 a0001c0004t0001 a0001c0010t0006 a0003c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0110 a0001c0001t0001g0118 others(42): Show a0001c0001t0001g0014 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0216 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0204 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0175 a0001c0001t0004g0039 a0001c0001t0004g0152 a0001c0001t0005g0074 a0001c0001t0006g0123 a0001c0001t0006g0156 a0001c0001t0007g0040 a0001c0001t0008g0192 a0001c0001t0011g0174 a0001c0001t0018g0005 a0001c0001t0027g0010 a0001c0002t0032g0242 a0001c0003t0001g0042 a0001c0004t0001g0235 a0001c0010t0006g0159 a0003c0012t0001g0236	45	242	0.1860	-342	c.360 others(19): Show c.360+36383_360+36724del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31510584	TACATATG others(335): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0153 a0001c0001t0016g0153	1	244	0.0041	-342	c.894 others(17): Show c.894-7108_894-6767del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PCGF3_chr4_700832_775089	746008	GCCCGGGG others(335): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0299 a0001c0001t0042g0299	1	366	0.0027	-342	c.462 others(17): Show c.462+1349_462+1690del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746659	CTCGCCGT others(335): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA21309.hp2 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0079 a0001c0001t0007g0071 a0001c0001t0007g0079	2	366	0.0055	-342	c.462 others(17): Show c.462+2063_462+2404del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747264	CGGGGTCG others(335): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18945.hp2 NA18973.hp1 others(2): Show HG01081.hp2 NA18945.hp2 NA18973.hp1 NA18984.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0005 a0001c0001t0007 a0001c0003t0005	a0001c0001t0007g0002 a0001c0001t0007g0223 a0001c0001t0007g0309 others(1): Show a0001c0001t0007g0002 a0001c0001t0007g0223 a0001c0001t0007g0309 a0001c0003t0005g0133	5	366	0.0137	-342	c.462 others(17): Show c.462+2633_462+2974del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747321	GGGGGTCG others(335): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTG TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0261 a0002c0002t0017g0261	1	366	0.0027	-342	c.462 others(17): Show c.462+2658_462+2999del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PHF21B_chr22_44876162_45015005	44904523	AGCAGCTA others(335): Show AGCAGCTACTTAGAACTGAGACTCCCCCTGCATCCCCTATAAACTAATAG CAACAAGAATTTTTTTCTTCATTTTGTGGATTTCAGACATGAGCAGAGCA TCGGCAGACTGGGCAAGAAGTGTTAGTGTCGTCAGAGGCAGCAGAGGTCA GGGCTGGGCAGCAAGCCAATGGTGCAATGAGCAGTGGCCAGGAGTGGTGT AGGGGACTCCAGAGAGGGCCAAGGAGCCACAGGCTGCAGAAAAAGTCAGT GGCATGCACTCCCTGAAGATCAGAAGTCCATCTTGAAGTGCAAAAGGAAA GGGAGTATCTGAGCTAGTCTTAGCTTAGACAGGGCTGGGTCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(101): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0002 a0001c0004t0030 a0001c0006t0017 a0002c0003t0011 a0005c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 others(101): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0117 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0261 a0001c0001t0007g0279 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0008g0024 a0001c0001t0010g0044 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0206 a0001c0001t0010g0252 a0001c0001t0019g0128 a0001c0001t0019g0130 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0024g0286 a0001c0001t0031g0158 a0001c0001t0037g0066 a0001c0001t0043g0272 a0001c0001t0044g0275 a0001c0001t0047g0300 a0001c0002t0002g0094 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0004t0030g0095 a0001c0006t0017g0025 a0002c0003t0011g0035 a0002c0003t0011g0237 a0002c0003t0011g0239 a0002c0003t0011g0247 a0005c0010t0001g0041 a0005c0010t0001g0076	104	300	0.3467	-342	c.832 others(17): Show c.832-8782_832-8441del		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	5/12						chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798476	GTGGTGGT others(335): Show GTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGT GGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0057 a0001c0002t0010g0057	1	178	0.0056	-342	c.185 others(19): Show c.1855-5385_1855-5044del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743839	CCCTGGTT others(335): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0024 a0001c0011t0024	a0001c0011t0024g0147 a0001c0011t0024g0147	1	196	0.0051	-342	c.655 others(18): Show c.655-10165_655-9824del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744475	TTACTAGC others(335): Show TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0061 a0001c0039t0061	a0001c0039t0061g0177 a0001c0039t0061g0177	1	196	0.0051	-342	c.655 others(17): Show c.655-9517_655-9176del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63670100	GCCAAGAT others(335): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACC ACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCA GTTAACCACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGA ATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGACGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(23): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017 a0004c0006 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0007t0001 a0001c0017t0001 a0004c0006t0001 a0009c0010t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 others(23): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0007t0001g0032 a0001c0017t0001g0053 a0004c0006t0001g0036 a0004c0006t0001g0037 a0009c0010t0001g0033	26	60	0.4333	-342	c.700 others(17): Show c.700-2450_700-2109del		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
SNTG2_chr2_945849_1372613	1342746	AGCAGCTT others(335): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0106 a0003c0008t0001g0106	1	190	0.0053	-342	c.148 others(21): Show c.1489-24407_1489-24066del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343155	CTTTTCCC others(335): Show CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01516.hp1 HG01192.hp1 HG01516.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0001 a0001c0001t0001 a0010c0012t0001	a0001c0001t0001g0140 a0010c0012t0001g0166 a0001c0001t0001g0140 a0010c0012t0001g0166	2	190	0.0105	-342	c.148 others(21): Show c.1489-24184_1489-23843del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
STS_chrX_7142712_7359641	7204932	CTTATGAT others(335): Show CTTATGATATCCTTCTCCACTCTGAGACCATGGATAGTCATGATTGTTTT GCTGACCTGCTTTGTGGCCCCACATGGCCCTAGGCCAGGTGCTTCTGTTG CCTGTTGTTGTACACACACTGGTGGGCTTGGGCATGTGTGGTACCCAGAC TCCATGGACAACGGAAGAAGAAATATAAGATTTGGAGTTGTTAGTAAAAT AGACTTTTGGGCAATTGCACAATCATCCATGCTAGCACAGGAAAGCTCTT AGCAGGTGTTTCTCCTTCCAGTTTACTTTGAAAGAAGAGGGGCTTTCCCT GCCTACACACCAACATCCTGGTTTCATAGTGAGGAAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	231	0.0043	-342	c.-5+ others(17): Show c.-5+13925_-5+14266del		STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	2/10						chrX	TogoVar
THOP1_chr19_2780503_2820807	2818121	CAAGGGTG others(335): Show CAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	370	0.0027	-342	c.48 others(11): Show c.4846_*5187del		THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding					2315		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113541802	ATCGCTGA others(335): Show ATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACC GCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTT TATTACCGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp1 HG02965.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0003 a0002c0004t0005 a0002c0003t0003 a0002c0004t0005	a0002c0003t0003g0021 a0002c0004t0005g0316 a0002c0003t0003g0021 a0002c0004t0005g0316	2	368	0.0054	-342	c.169 others(19): Show c.1690+2352_1690+2693del		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113541916	ATCGCTGA others(335): Show ATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACC GCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTT TATTACCGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0066 a0003c0002t0002g0066	1	368	0.0027	-342	c.169 others(19): Show c.1690+2565_1690+2906del		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM184B_chr22_38214291_38278010	38229589	TCAGCCCA others(335): Show TCAGCCCAGGAAGCTAGAGCAGCTGGATTGCCAAGGCTACTCTAGACCAC AGGGAGGTCAGCCCAGGAAGCTAGAGTGGCTGGATTGCCAAGGCTACTCT AGACCACAGGGAGGCCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGG CTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATT GCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGG CTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCT AGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	354	0.0028	-342	c.525 others(16): Show c.525+738_525+1079del		TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8						chr22	TogoVar
TMEM87B_chr2_112050269_112124314	112114636	AAAGATTC others(335): Show AAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG AGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATT ACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG02056.hp2 HG02109.hp2 HG02451.hp1 HG02698.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03471.hp1 HG03654.hp2 HG04199.hp2 NA18939.hp1 NA18941.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA19005.hp1 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0002c0002t0018 a0002c0002t0041 a0002c0002t0043	a0002c0002t0001g0018 a0002c0002t0003g0004 a0002c0002t0003g0130 others(30): Show a0002c0002t0001g0018 a0002c0002t0003g0004 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0157 a0002c0002t0003g0161 a0002c0002t0003g0166 a0002c0002t0003g0169 a0002c0002t0003g0172 a0002c0002t0003g0180 a0002c0002t0004g0112 a0002c0002t0004g0116 a0002c0002t0008g0142 a0002c0002t0008g0159 a0002c0002t0008g0162 a0002c0002t0012g0280 a0002c0002t0012g0282 a0002c0002t0014g0149 a0002c0002t0014g0177 a0002c0002t0018g0293 a0002c0002t0041g0279 a0002c0002t0043g0154	33	316	0.1044	-342	c.160 others(19): Show c.1609-1423_1609-1082del		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114674	AAAGATTC others(335): Show AAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG AGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATT ACAGGAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGA	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0171 a0002c0002t0003g0171	1	316	0.0032	-342	c.160 others(18): Show c.1609-1271_1609-930del		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097262	TATACATA others(335): Show TATACATATATACACATATGTACATATATGTGTATATATACATATACATA TATACACACGTGTATATATACATATACATATATACACACGTGTGTATATA CATATACATATATACACACGTGTGTATATACATATACATATGTACACACG TGTGTATATATACATATGTACACACGTGTGTATATATACATATGTACACA CGTGTGTATATATACATATGTACACACGTGTGTATATATACATATGTACA CACGTGTGTATATATACATATGTACACACGTGTGTATATATACATATGTA CACACGTGTGTATATATACATATACACACGTGTGTATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02630.hp1 others(6): Show HG01884.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(6): Show a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0006g0329 a0001c0001t0006g0330	9	334	0.0270	-342	c.-48 others(11): Show c.-4823_-4482del		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4456		chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133292017	ATGTCCCT others(335): Show ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	284	0.0035	-342	c.121 others(17): Show c.1214+140_1214+481del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(335): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02818.hp1 others(4): Show HG02055.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0015 a0001c0016 a0001c0008 a0001c0015 a0001c0016	a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 others(2): Show a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 a0001c0015t0016 a0001c0016t0049	a0001c0008t0016g0322 a0001c0008t0016g0323 a0001c0008t0018g0179 others(4): Show a0001c0008t0016g0322 a0001c0008t0016g0323 a0001c0008t0018g0179 a0001c0008t0018g0180 a0001c0015t0011g0026 a0001c0015t0016g0005 a0001c0016t0049g0120	7	336	0.0208	-342	c.357 others(19): Show c.357+14559_357+14900del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12						chr7	TogoVar
ZBTB42_chr14_104796101_104809712	104808122	ACTCCCCA others(335): Show ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01099.hp1 others(2): Show HG00597.hp2 HG00673.hp1 HG01099.hp1 HG02071.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0012 a0002c0002t0002 a0002c0005t0012	a0002c0002t0002g0000 a0002c0005t0012g0000 a0002c0002t0002g0000 a0002c0005t0012g0000	5	99	0.0505	-342	c.56 others(11): Show c.5657_*5998del		ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding					3411		chr14	TogoVar
ZNF276_chr16_89716537_89745925	89745389	GAAACAGT others(335): Show GAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAG GGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGG GAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01192.hp2 others(29): Show HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18939.hp1 NA18951.hp1 NA18979.hp1 NA19057.hp1 NA20905.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0015	a0001c0001 a0001c0020 a0002c0002 others(4): Show a0001c0001 a0001c0020 a0002c0002 a0002c0006 a0002c0015 a0012c0022 a0015c0025	a0001c0001t0007 a0001c0020t0051 a0002c0002t0007 others(11): Show a0001c0001t0007 a0001c0020t0051 a0002c0002t0007 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0002t0046 a0002c0002t0050 a0002c0002t0053 a0002c0006t0010 a0002c0006t0052 a0002c0015t0007 a0012c0022t0020 a0015c0025t0007	a0001c0001t0007g0111 a0001c0001t0007g0184 a0001c0001t0007g0195 others(21): Show a0001c0001t0007g0111 a0001c0001t0007g0184 a0001c0001t0007g0195 a0001c0020t0051g0055 a0002c0002t0007g0025 a0002c0002t0007g0096 a0002c0002t0007g0105 a0002c0002t0007g0106 a0002c0002t0007g0107 a0002c0002t0011g0021 a0002c0002t0011g0024 a0002c0002t0019g0109 a0002c0002t0019g0112 a0002c0002t0020g0282 a0002c0002t0046g0283 a0002c0002t0050g0104 a0002c0002t0053g0097 a0002c0006t0010g0004 a0002c0006t0010g0053 a0002c0006t0010g0054 a0002c0006t0052g0004 a0002c0015t0007g0110 a0012c0022t0020g0281 a0015c0025t0007g0263	32	420	0.0762	-342	c.71 others(11): Show c.7144_*7485del		ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding					4465		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76394333	CAGGTGGT others(335): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0215 a0001c0004t0049g0215	1	346	0.0029	-342	c.181 others(21): Show c.1811-14372_1811-14031del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818121	CAAGGGTG others(335): Show CAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA CCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0316 a0001c0006t0008g0316	1	410	0.0024	-342	c.-19 others(11): Show c.-1950_-1609del		ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding					1746		chr19	TogoVar
ADAMTS12_chr5_33518535_33896990	33726616	GAGCACGG others(334): Show GAGCACGGTTTGAACAGTTGGCCATCTGTGATTGGTTGAAGTGTGGCCAC TGTAATAGGCCGAGATTCAGCTATTGTTACTGAAGCTTACTCCTAAGTTA ACTTTTGAGTTAACATATTAGATTGCAGTTCAGACTTAAGAATTCAAATA TGCAAGTGCAGAGGCTTTCTTGGGCCAAATTCAGCTTGATGTAACAGTAC TATCAGAATCATCCTTACATGTGTGTGGTGCCCCGCAGTTTATAAAGTGC CCTCACTCTGAAGCCATGTGAATGCATCCTTTTGGACGGCCAGATCCAGG AATCCGCCTGGGCAGATGAGGCATCTCCTGGGCTTGGATCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02630.hp2 HG01884.hp2 HG02559.hp2 HG02630.hp2	a0003 a0008 a0028 a0003 a0008 a0028	a0003c0005 a0008c0055 a0028c0030 a0003c0005 a0008c0055 a0028c0030	a0003c0005t0006 a0008c0055t0001 a0028c0030t0012 a0003c0005t0006 a0008c0055t0001 a0028c0030t0012	a0003c0005t0006g0165 a0008c0055t0001g0176 a0028c0030t0012g0200 a0003c0005t0006g0165 a0008c0055t0001g0176 a0028c0030t0012g0200	3	224	0.0134	-341	c.634 others(19): Show c.634+24447_634+24787del		ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	3/23						chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238878	GCCTCCCG others(334): Show GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTC CCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0077 a0001c0001t0050g0077	1	106	0.0094	-341	c.136 others(19): Show c.1361+2912_1361+3252del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ANKRD33B_chr5_10559070_10662816	10638989	AGTTGCGC others(334): Show AGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGAT GTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGG TTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0116 a0001c0001t0055g0116	1	324	0.0031	-341	c.637 others(16): Show c.637+914_637+1254del		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639265	TGGAGTTG others(334): Show TGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGC GATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCG GCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTA GGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0198 a0001c0001t0042g0198	1	324	0.0031	-341	c.637 others(17): Show c.637+1252_637+1592del		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639552	CGCGGCGA others(334): Show CGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGG AGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG03471.hp2 HG02257.hp2 HG02258.hp2 HG03471.hp2	a0004 a0004	a0004c0016 a0004c0035 a0004c0016 a0004c0035	a0004c0016t0001 a0004c0035t0001 a0004c0016t0001 a0004c0035t0001	a0004c0016t0001g0007 a0004c0016t0001g0010 a0004c0035t0001g0122 a0004c0016t0001g0007 a0004c0016t0001g0010 a0004c0035t0001g0122	3	324	0.0093	-341	c.637 others(17): Show c.637+1398_637+1738del		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHORDC1_chr11_90195429_90228049	90199347	GTTTACTT others(334): Show GTTTACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAATAAATAAATAAAAAAAATAAAAAAAAAAAAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	412	0.0024	-341	c.27 others(11): Show c.2717_*3057del		CHORDC1	ENSG00000110172.12	transcript	ENST00000320585.11	protein_coding					1081		chr11	TogoVar
CPNE4_chr3_131528569_132040014	131814562	TTGAAATG others(334): Show TTGAAATGCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTATA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02486.hp1 others(5): Show HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG03195.hp2 HG03209.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0005t0015	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0002g0070 a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0004t0001g0055 a0001c0005t0015g0091	8	94	0.0851	-341	c.180 others(19): Show c.180+90361_180+90701del		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15						chr3	TogoVar
CPNE4_chr3_131528569_132040014	131958958	TGATACAC others(334): Show TGATACACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(62): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01496.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18982.hp1 NA18990.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(62): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0044 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0003g0062 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0005t0015g0091 a0001c0006t0004g0008	65	94	0.6915	-341	c.-1- others(17): Show c.-1-53855_-1-53515del		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
DLGAP2_chr8_732628_1713476	1642909	TCCTCACC others(334): Show TCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTGG AACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-341	c.181 others(20): Show c.1810+9889_1810+10229del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643312	CCCTCACC others(334): Show CCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCT GGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCC GCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTC ACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCG ACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-341	c.181 others(21): Show c.1810+10285_1810+10625del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643591	TCCTCACC others(334): Show TCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTC ACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCC AACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-341	c.181 others(21): Show c.1810+10627_1810+10967del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
G6PD_chrX_154526391_154551846	154528200	GAAAAAAA others(334): Show GAAAAAAAAAAAGAGTAAATTGTGGCCAGGTGCGGTGGCCCATGCCTGTA ATCCCAGCACTTTGAGAAGCCTAGGCGGGTGGATCACGGGGTCAAGAGAT AGAGACCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACA AAAATTAGCTGTGTGTGCTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAA CTGAGATCACGCCACTGCACTCCTGCACGCCAGCCTGGCGAAAGAGCAAG AGTCTGTCTCAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02622.hp1 others(6): Show HG01891.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0003 a0001c0004t0005	a0001c0004t0003g0013 a0001c0004t0003g0018 a0001c0004t0003g0049 others(1): Show a0001c0004t0003g0013 a0001c0004t0003g0018 a0001c0004t0003g0049 a0001c0004t0005g0109	9	285	0.0316	-341	c.34 others(11): Show c.3459_*3799del		G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding					3190		chrX	TogoVar

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Search Results (Total: 10000 hits)