Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
NBPF20_chr1_145285005_145430603	145305106	TTTCTTCC others(50): Show TTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTT CCCCTTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 NA19085.hp1 HG01358.hp2 NA19085.hp1	a0005 a0006 a0005 a0006	a0005c0002 a0006c0006 a0005c0002 a0006c0006	a0005c0002t0001 a0006c0006t0003 a0005c0002t0001 a0006c0006t0003	a0005c0002t0001g0003 a0006c0006t0003g0002 a0005c0002t0001g0003 a0006c0006t0003g0002	2	6	0.3333	-57	c.146 others(68): Show c.14630_14686delGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAA GAAGGAAAGAAGAAGGGGAAGAA	p.Gly others(21): Show p.Gly4877_Lys4896delinsGlu	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	126/143	15805/19578	14630/16938	4877/5645		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120442949	ACCCCCAG others(6346): Show ACCCCCAGCTGGCAGAGAAGAAACAGCAGTTCGTAAACCTCAAAGAGAAA TGTTTTCTAACTCAACTGGCCGGCTTCCTGGCCAACCGACAGAAGAAATA CAGTAAGATCTATAGGCTCACCGTCATGAAAGTGATGAATGATGTCCTGT CTTCTCTCTGAGACACTAAATGCTCTCTCCATCAAAAATAATTTCATCCT TCCTGTACTTCTAGGAAAACAGAAATGGGTATTTTAACATTTTGTTAAAG TTGGAAGACAGAGGTACCAAAGTATTTAGCAACTTTCCATGTTTGCAATC AGATGGGGGTGGGACTAGAGTTAAACTCACAGTTATTGATTTCTAACACA GGCACAGAACGACCTGTTTTCTCCAAGAGGCTCAATCATGTTTTCAAGAA TCCTCTCTGTACCATATAAGATCCTGCAGACAAATAACATGTAGTCTGTT GTTCTAAATGTCTAGGACTAGTGAACTTTTATTCAGTTCAAGTTTCTGTT GAGGCCCAACAGGCAAAGCTCTGTTCTAGTGACTCTGAGGGGAACTTGGT GATAGTACCCAGTACCTGCTCTGAGGGGCTTCAAGAGGAGTCTGCTCCTA ATAGAACCTGTGCTATCTATAAGTGACAGCATCAAGAGCAGGGAGTAGGG GCCGTGCAACATGGCTCACTCCTGTAATCTCAGCACTTTGGGAGGCTGAG GCGGGCAGAGCACAAGGTCAGCAGTTTGAGACTAGCCTGGGCAACATGGA GAAACCCCATCTCCACTAAAAATACAAAAAGTAGATGGGCATCGTGGCGG GCAACTGTAATCACCACTAATCGGGAGGCTGAGGCAGAAGAATCCTTTGA ACCCAGCAGGCAGATGTTGCAGTGAGCCAAGATTGCACTATTGCACTCCA GCATGGGTGACAGGGCAAGACTCGTCAAAAAACAAACAAAACAAAAAGAT AAATAAATCAAAAATAAAAATAAAAAGCAGAGAGTAGCTTGGTGAGAGTG AAGTCCTGCTTCCTGGTGCACAGGCTCTTGTTCCTAAAGAGGAAGAAAGA TCACACCCGAGAATGTGTGGAAGCAGCAGTGCAGTGTGCAAAGCAGGGAC CCTCAGCCTGTCTCCTGGGCTCCATCCAAGTTCCTTGTCTTGTCTGTCCC TCAGTTTCCTCATCTGTTCAGAGGGTACTACAATAATACCTACCTCTGTA AATTGCTGCAATGAATTACATGAGGCATTTCCTGTCAATCTCCTTGAACA TTAATTGGCACAGTGTAAACACTATCTATTAGTTCTTCATTCTGATGTTT CTAAATTAACACAAACTAATCTTATGCTGTTTCTAAATTAACACAACGAA TCTAAATCTTAATGCTGCCTCTCATACTAATAAAGTATTTGGGCATATTT CCTTCATGGCCTTATTGTCTTATGTCTCACACTTTATGCTTCAGATATGA TTCTTAAAACCATATCTGAATATTGATTTAAAAATGAAATATTTTTAAAG TCCTTGACATATTTGTCCTTGAAATACCCAGTAAAAGGGAAACCATCAGT CCCATAGTCCTAGGGACCTTCCCGACTGTACAAGAAATCACTACTTCATG CCCCAGTGCAGTGTTTTAGAGGAGAGGCTGCAAGGCTTGGGAAAGTGGCC CCGCATTCAGAGTCAGACCTCAGGGGCTGTGAGTTCTGACTCCGCTTCGT TGTGGTTGAATCATCTTGTCAACTTCCTTGACGCGCCCTTGAGTTTCTCT TTCTTCGTCTTTAAATTTTGGAGGATCAGATGCCAGAAAGTCAGGAGACT GAAGAGTAAAGATGTGGAAATCCCTGTCTAGACCCTGGTACTGGGGAGAG TTTTGTCCTTGGGATGGACCTGGCTCCTGCCCTGTAGGCAGTGACCACAG CAGCATGTCCAGCCTTCCACTGAGGCAGGCGTGTCTGTCTTTTCTCAGAG TATGAAGAGTGTAAAGACCTCATAAGATTTATGCTGAGGAATGAGCGACA GTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCA GGTGAGGGGAACCCGTAGGGGGAGGCAGGCGGGTAGGTGTGTAGATCTCT GAAGTACAGCAGCTCGGCGGGGAGAAGTAAGAATGAAGCTGGGCCAGGGG AAGGGCAGAAATTGCCATGGCAGGCTCATGACACACAAATATTTATCAGA GAACAAGGATAATAATAAGTTCTGTGTTGCAGTTGTTTCTTAGAGCCTTG TTTTCTCTTTTTCAAACAAGTAATTGTTGAGGTGAAATTTACATAACACA AAATTCACCAAAGGAGTGGGAACCACCCAGCAGCATTCAGTATAATCAAA ATGGTGTGCTATCGCCACCCCACTTACCCTTAGTGAGAATCACCTTCTGA CTGACTGCGTCTTCTCATTCTTTCACTCAATCAATGTTGCCTTCTTGACC CTGTCATTCTTTTCTTCTTTCATCTTTTCAATTCGCCCCATCTGCACCTG GCCTCATTTCTGTACATGACTTTGTATCTAGTGGCCGCAAGATGCACTAT GTGTATTTTCACATGGAAATGTCCATGGCCAGAGTGAGGAACTGAAAGGA TGTCTTTGAAATGGAATTAGGAAGACACCTACTTTTGTTTACAGAAGAGA AAGATGAATGGAACATCATCGAGGATCTTGCAGGAGCCCTCTCTGATACA GGGAAAGCCTGTAGACCATTTTCTGTTCTTTCTCTTGGCCACAGACATTC CTTTCAACATGTGCTGACCTTCTGCTTGAAGGTCTCCTTGTGAACATTGT CTCAGAAATCTCTGTTGCAATATTTGAACGGATCACTCAACCCTTTCTAC TCTTAAATTTTCTCTACCATCTCACCTTAGGCAATATAAAGTCCTGGTTC ACTCTCAGGAACGAGAGCTGACGCAGTTAAAGGAGAAGTTACAGGAAGGG AGAGATGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCT GGATGAGCCGGACAAGTCCCAGGGGCAGGACCTCCAAGAACAGCTGGCTG AGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAGGTAAG GTGGCCATAGGCCCTGATGACCCAAAACCCCAGGCTTATGAGAGGCTCCA GACCTCCATACTTTCACAATGACAGTTGTATCAGTGGGGTTTTTTTCTGC TACACCTATGTGGCCATGACATGACCAGGACTTCCTGGGTAAGAACAGAG ATGGGAAACCCATGGTTTGGAGGTCACAGTATTGCAAGTGTCCCTCCTTC CTTGATGGAAGGTGGTCTTTGGAGCAAGAGGCAGCATCTATCTAGTTTTA AAGGACAAGAAGGAGGCTGTGATGGGAGGGCGCTTGTTGGAGTGAAAAGA GCTCTGGGCTAAGAATGAAGGTTCCCAGGCTGTCTTTTTGGCAATGTTCT TAGTAAGTGTCGGTGAGTGAGTGATTTATCTTTCCAGAGTTTCTCTCTCT CCATCTGCAAAGGCAGACAAATTGTCTCTTGCAAGGGTCTGAAGCATCCA AATATGGGAACACTTACGAATGCTTTTCAAAATGAGATGAAGCCCCTCTC CATGTGGTGTTGGAGAAGGCACTTGATGTGGGGGCATTTGGTGGTAGGAA GTGCTTCAGACTGGAGCACTCCCCATGGATAGAATGTCCCTGAATAACAC AGCAGAAGCCACATGGAGGGCCTGTGCAGTCTCATGACGCATAGAGGACT GTGGGACAAGTTTGTCCTCTCCTAAGAGAAAGAATGAGGTTTGAAATGCG AACTGTGACAGGACACCAAGCCTGTTCCTGGGAATCAGATCTGTGGCAGG ATGGGGGAGACAGCTGCCAAAGTCCAGAGAGAGGCTACACAAGCCTCCAG TGATATGGGAAGCAAAAGGTCTTTTCAGTATTTGGCCACATCTTGATGGT GGCCCTCCACATCAGAAATGCATTGCCCGATGGACCAGGAAACCATGCCA GGGCATTTTGTGAAAGATAAAACATGAGAGTTTTCAGTACAATGCTGAAC CATACATAGATGTTCATGTCTCTGTGCACGTTGGGCTGACTGTGCTTGCA GAATGTGAAGTGGGAAATATCTGAACGAACATTTTGTATTTATAAAAAAT GACGAAGATGAGGATGAAGATGTTCAAGTTGAGGAGGATGAGAAAGTGCA GAAATCATCTGCCCCCAGGTAACACTGAATACTCAGGAGCAAGTAATGGG TGGTAACATATGAAAATGTCTAGGAGGCACACCCTCTCTGGCATCTATGG TGGACCAAAAGCCCGCATCCCCTTGGCCACAGTATGTGAAATTGAACCCA GCTTAGACACAGGGTGCGGCAGCTGTCGTGTTTCTCTATGTGTGCCAAGT GTCATGTCTGTACCATACAGGGATAGCTGAGTCTTCATCCTCCTCAGCTC CTATCTGTCCAGTGCACTGAATACCAGCTGCTCTCTTCCTCTCTGGCTCC CATGGCAGCCATGGTCTGTTGCAGAGAGAAGAGGATTGCCTGTTTCCTCT TTAAGGGAACCTCCATTTTGCTTTCTGGAACCACTCTCTTAATGCCACCT GTCAAAACCAGCTAGGACTCCCTGGGGTCCAATCCCTCTGTGTTTAATCT TCTGTCATCTCTGTCCCACCTGGCTCATCAGGGAGGTGCAGAAGGCTGAA GAGAGCAAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATCACTTGTTC AAATAGCCACGGCCCTTGTGACTTCAACCAGCCTCACAAGAACATCAAAA TCACATTTGAGGAAGACGAAGTCAACTCAACTCTGGTTGTAGACAGAGAA TCCTCTCATGATGAATGTCAGGATGCTCTAAACATTCTCTCAGGTAGCCT CTATTTTCCTTGTGTCTCATACCTCTGTCTAGGCTATGGAAGATTAATTC TGAGGACAGGCTGTATATACACATATTGTTATTGTTTTAGTCAGAAACTA GGATGGAGCTAGGTGCTGTGACTCACACATATAATCACAGCACTTTGGAA GGCCCAAGTGGGACGATGACTTGAGTTCAGGAGTTGAAGACCAGCCTGGA CAATATGGTGAAACCCATCTTTACAAAGAATACAAAAAATTAGGCAGGCA TGGTGCTGCATGCCTATAGTCCCAACTGCTCAGGAGACTTAGGTGGGAGG ATCGGCTGAGACGATCCTCCCACGCTCGTTCACTCCTCTCAGGCTAGACT CTCTCTCCTTTTCATTGGCTTGTCTTAGCTATTAATAAGAAGTCTCGGCC TGGCGCGGTGGCTCACACATGTAATCCGAGCACTTTGGGAGGCCGGGGCG GGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACGCCGTCTTTACTAAAAATACAAAAAAAAAAAAAAAATTAGCTGGGCGC GGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TGGCATGAACCCAGGAACCGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGTA AGTCTCTGACCAGGGGCGCTGGCTCACATCTTAATCCCAGCACTTTGGGA GGCTGAGGTGGGCAGAACACCTGAGGTCAGGAGTTCGAAACCAGCCTGTC CAAGATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGCAT GTTACTTGGCGCTTGTAATCCCAGATGCTTGGCAGGCTGAGGGATGAGAA TCGCTTGAACCCGGGCGGCAGAGGTGGCAGTGAGCTGAGATTGTGCCTCT GCACTGCAGCCTGCACGACAGAGTGAGACTCCGTCTCAAACAAAAAACAA AAAACCAAAAAAGAAAAAAATTAAAAAAGCAAAATGAAATCTTTTGTGCT ACACAGAAACATTGGCCACTCATGGGGTAAAAATCTCAGGGCCAAGCCTT GCTTTATAGAAACTTATAAGCAAGAAAAGTGTAGAAGTGTTTATGTCCTG GTTTCAAGGTGACTGCATAGCTGAGACAAGTTGACTTAAAGGAGATCAAG ACTGGAGATGACAAGAGTGAAACCAGGGAAACATCATCTTCAAATAAGTA AACAAGGCTGCCAGTGACATCCCTCAGTCCTGATTAAGCCTATTTGATTT CACCAGTTTTTAACCCATCATGTGTTTGCCTTTCTTCTCCCCAGTCCCTG GCCCCACCTCTTCTGCCACAAACGTCAGCATGGTGGTATCAGCCGGCCCT TTGTCCAGCGAGAAGGCAGAGATGAACATTCTAGAAATCAATGAGAAATT GCAC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0033 a0001c0040t0002g0033	1	292	0.0034	-6353	c.778 others(12): Show c.778+1465_892del	p.Val others(19): Show p.Val260_Gln298delinsGlu	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	9/23		779/2829	260/942	INFO_REALIGN_3_PRIME	chr1	TogoVar
NCL_chr2_231448531_231469484	231460685	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG03471.hp1 HG06807.hp2 others(1): Show HG02280.hp1 HG03471.hp1 HG06807.hp2 NA20300.hp1	a0004 a0004	a0004c0011 a0004c0012 a0004c0011 a0004c0012	a0004c0011t0009 a0004c0012t0014 a0004c0011t0009 a0004c0012t0014	a0004c0011t0009g0050 a0004c0012t0014g0043 a0004c0011t0009g0050 a0004c0012t0014g0043	4	462	0.0087	-3	c.792 others(10): Show c.792_794delGGA	p.Glu others(6): Show p.Glu265del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	925/3924	792/2133	264/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460694	CTCATCAT others(8): Show CTCATCATCTTCATCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0004 a0008c0017t0004	a0008c0017t0004g0132 a0008c0017t0004g0132	1	462	0.0022	-15	c.771 others(22): Show c.771_785delTGATGAAGATGATGA	p.Asp others(13): Show p.Asp257_Asp261del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	916/3924	771/2133	257/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460703	TTCA TTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(68): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18983.hp1 NA18988.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19059.hp1 NA19063.hp2 NA19072.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0018 a0002c0003 a0002c0007 a0002c0018	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(13): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0015 a0002c0003t0016 a0002c0003t0033 a0002c0007t0005 a0002c0007t0013 a0002c0018t0004	a0002c0003t0001g0023 a0002c0003t0001g0133 a0002c0003t0001g0144 others(29): Show a0002c0003t0001g0023 a0002c0003t0001g0133 a0002c0003t0001g0144 a0002c0003t0002g0031 a0002c0003t0002g0137 a0002c0003t0002g0149 a0002c0003t0003g0012 a0002c0003t0003g0147 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0004g0017 a0002c0003t0004g0136 a0002c0003t0004g0140 a0002c0003t0004g0143 a0002c0003t0004g0146 a0002c0003t0004g0151 a0002c0003t0004g0175 a0002c0003t0006g0135 a0002c0003t0007g0051 a0002c0003t0007g0134 a0002c0003t0007g0160 a0002c0003t0008g0142 a0002c0003t0009g0124 a0002c0003t0010g0138 a0002c0003t0011g0139 a0002c0003t0011g0172 a0002c0003t0015g0128 a0002c0003t0016g0161 a0002c0003t0033g0145 a0002c0007t0005g0038 a0002c0007t0013g0079 a0002c0018t0004g0141	71	462	0.1537	-3	c.774 others(10): Show c.774_776delTGA	p.Asp others(6): Show p.Asp258del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	907/3924	774/2133	258/710		chr2	TogoVar
NCL_chr2_231448531_231469484	231460748	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp1 NA19006.hp2 NA19080.hp2 NA18950.hp1 NA19006.hp2 NA19080.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0024 a0005c0006t0001g0024	3	462	0.0065	-3	c.729 others(10): Show c.729_731delGGA	p.Glu others(6): Show p.Glu243del	NCL	ENSG00000115053.17	transcript	ENST00000322723.9	protein_coding	4/14	862/3924	729/2133	243/710		chr2	TogoVar
NCOA3_chr20_47496887_47661872	47651070	TGCAGCAG others(2): Show TGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(27): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG01106.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp2 HG02071.hp2 HG02074.hp1 HG02280.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 NA18612.hp1 NA18939.hp1 NA18947.hp1 NA18951.hp2 NA19057.hp2 NA19064.hp1 NA19077.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0003 a0013 a0003 a0013	a0003c0004 a0003c0011 a0003c0024 others(1): Show a0003c0004 a0003c0011 a0003c0024 a0013c0021	a0003c0004t0003 a0003c0004t0020 a0003c0004t0028 others(3): Show a0003c0004t0003 a0003c0004t0020 a0003c0004t0028 a0003c0011t0003 a0003c0024t0003 a0013c0021t0003	a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0100 others(27): Show a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0100 a0003c0004t0003g0133 a0003c0004t0003g0134 a0003c0004t0003g0135 a0003c0004t0003g0136 a0003c0004t0003g0138 a0003c0004t0003g0143 a0003c0004t0003g0144 a0003c0004t0003g0147 a0003c0004t0003g0164 a0003c0004t0003g0167 a0003c0004t0003g0179 a0003c0004t0003g0198 a0003c0004t0003g0199 a0003c0004t0003g0200 a0003c0004t0003g0205 a0003c0004t0003g0292 a0003c0004t0003g0294 a0003c0004t0003g0300 a0003c0004t0020g0172 a0003c0004t0020g0290 a0003c0004t0028g0173 a0003c0011t0003g0168 a0003c0011t0003g0169 a0003c0011t0003g0177 a0003c0011t0003g0178 a0003c0024t0003g0137 a0013c0021t0003g0165	30	316	0.0949	-9	c.375 others(18): Show c.3753_3761delGCAGCAGCA	p.Gln others(15): Show p.Gln1252_Gln1254del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	3984/7961	3753/4275	1251/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47651092	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(68): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18992.hp1 NA19001.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0002 a0004 a0014 a0002 a0004 a0014	a0002c0002 a0002c0025 a0004c0006 others(1): Show a0002c0002 a0002c0025 a0004c0006 a0014c0022	a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 others(10): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0002t0019 a0002c0002t0035 a0002c0002t0041 a0002c0002t0044 a0002c0025t0008 a0004c0006t0006 a0004c0006t0025 a0004c0006t0026 a0014c0022t0002	a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0103 others(68): Show a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0146 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0204 a0002c0002t0002g0214 a0002c0002t0002g0247 a0002c0002t0002g0280 a0002c0002t0008g0093 a0002c0002t0008g0094 a0002c0002t0009g0037 a0002c0002t0009g0046 a0002c0002t0009g0047 a0002c0002t0009g0048 a0002c0002t0009g0059 a0002c0002t0009g0060 a0002c0002t0018g0187 a0002c0002t0018g0188 a0002c0002t0018g0190 a0002c0002t0019g0058 a0002c0002t0019g0061 a0002c0002t0035g0096 a0002c0002t0041g0152 a0002c0002t0044g0114 a0002c0025t0008g0095 a0004c0006t0006g0080 a0004c0006t0006g0081 a0004c0006t0006g0082 a0004c0006t0006g0083 a0004c0006t0006g0085 a0004c0006t0006g0086 a0004c0006t0006g0087 a0004c0006t0006g0098 a0004c0006t0025g0090 a0004c0006t0026g0084 a0014c0022t0002g0184	71	316	0.2247	-3	c.378 others(12): Show c.3789_3791delGCA	p.Gln others(7): Show p.Gln1264del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	4020/7961	3789/4275	1263/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47651119	GCAA GCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp2 HG01358.hp1 HG01884.hp2 others(11): Show HG01106.hp2 HG01358.hp1 HG01884.hp2 HG02572.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0007 a0007c0010 a0002c0007 a0007c0010	a0002c0007t0008 a0002c0007t0012 a0007c0010t0014 a0002c0007t0008 a0002c0007t0012 a0007c0010t0014	a0002c0007t0008g0023 a0002c0007t0008g0029 a0002c0007t0008g0030 others(11): Show a0002c0007t0008g0023 a0002c0007t0008g0029 a0002c0007t0008g0030 a0002c0007t0008g0031 a0002c0007t0012g0001 a0002c0007t0012g0101 a0002c0007t0012g0102 a0002c0007t0012g0222 a0002c0007t0012g0276 a0007c0010t0014g0032 a0007c0010t0014g0033 a0007c0010t0014g0035 a0007c0010t0014g0036 a0007c0010t0014g0068	14	316	0.0443	-3	c.379 others(12): Show c.3792_3794delACA	p.Gln others(7): Show p.Gln1265del	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	20/23	4023/7961	3792/4275	1264/1424	INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA6_chr20_34709774_34830651	34768450	GTGGGAGG others(12): Show GTGGGAGGTCTTACCTGGAC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0217 a0004c0008t0001g0217	1	290	0.0035	-19	c.509 others(29): Show c.509_514+13delGTCCAGGTAAGACCTCCCA	p.Pro others(13): Show p.Pro171_Gly172del	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	5/15		509/6192	170/2063		chr20	TogoVar
NCOR2_chr12_124319415_124572612	124402512	GGCTGCTG others(2): Show GGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02027.hp1 NA18966.hp1 NA19009.hp2 others(2): Show HG02027.hp1 NA18966.hp1 NA19009.hp2 NA19067.hp2 NA19070.hp1	a0009 a0025 a0009 a0025	a0009c0037 a0009c0128 a0009c0156 others(1): Show a0009c0037 a0009c0128 a0009c0156 a0025c0127	a0009c0037t0002 a0009c0037t0050 a0009c0128t0007 others(2): Show a0009c0037t0002 a0009c0037t0050 a0009c0128t0007 a0009c0156t0007 a0025c0127t0004	a0009c0037t0002g0083 a0009c0037t0050g0082 a0009c0128t0007g0155 others(2): Show a0009c0037t0002g0083 a0009c0037t0050g0082 a0009c0128t0007g0155 a0009c0156t0007g0189 a0025c0127t0004g0009	5	234	0.0214	-9	c.152 others(18): Show c.1523_1531delAGCAGCAGC	p.Gln others(13): Show p.Gln508_Gln510del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	16/49	2000/9001	1523/7545	508/2514		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124402512	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02572.hp1 NA19011.hp2 HG02572.hp1 NA19011.hp2	a0023 a0024 a0023 a0024	a0023c0157 a0024c0129 a0023c0157 a0024c0129	a0023c0157t0001 a0024c0129t0038 a0023c0157t0001 a0024c0129t0038	a0023c0157t0001g0131 a0024c0129t0038g0191 a0023c0157t0001g0131 a0024c0129t0038g0191	2	234	0.0086	-12	c.152 others(21): Show c.1520_1531delAGCAGCAGCAGC	p.Gln others(13): Show p.Gln507_Gln510del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	16/49	2000/9001	1520/7545	507/2514		chr12	TogoVar
NCR1_chr19_54901148_54918073	54912835	GGAA GGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG02056.hp2 HG02074.hp2 others(23): Show HG00738.hp2 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18952.hp1 NA18952.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19063.hp2 NA19080.hp1 NA19088.hp2 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0006 a0003c0004t0009 a0003c0004t0005 a0003c0004t0006 a0003c0004t0009	a0003c0004t0005g0007 a0003c0004t0006g0007 a0003c0004t0006g0019 others(8): Show a0003c0004t0005g0007 a0003c0004t0006g0007 a0003c0004t0006g0019 a0003c0004t0006g0041 a0003c0004t0006g0102 a0003c0004t0006g0111 a0003c0004t0006g0112 a0003c0004t0006g0122 a0003c0004t0006g0127 a0003c0004t0009g0103 a0003c0004t0009g0106	26	457	0.0569	-3	c.881 others(10): Show c.881_883delAAG	p.Glu others(6): Show p.Glu294del	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding	7/7	921/1157	881/915	294/304	INFO_REALIGN_3_PRIME	chr19	TogoVar
NEFH_chr22_29475218_29496390	29489788	AAAGTCCC others(11): Show AAAGTCCCCTGAGAAGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20300.hp2 NA20300.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0002 a0016c0026t0002	a0016c0026t0002g0128 a0016c0026t0002g0128	1	448	0.0022	-18	c.215 others(27): Show c.2157_2174delTGAGAAGGCCAAGTCCCC	p.Glu others(13): Show p.Glu720_Pro725del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2202/3795	2157/3063	719/1020	INFO_REALIGN_3_PRIME	chr22	TogoVar
NEFH_chr22_29475218_29496390	29489869	AGCTAAGT others(11): Show AGCTAAGTCCCCAGAGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(23): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18985.hp1 NA18987.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19054.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 others(6): Show a0004c0004t0001g0004 a0004c0004t0001g0006 a0004c0004t0001g0026 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0099	26	448	0.0580	-18	c.223 others(27): Show c.2232_2249delTAAGTCCCCAGAGAAGGC	p.Lys others(13): Show p.Lys745_Ala750del	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	2277/3795	2232/3063	744/1020	INFO_REALIGN_3_PRIME	chr22	TogoVar
NELFE_chr6_31947087_31963971	31954568	CTCTCGG CTCTCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02145.hp2 HG02486.hp2 others(8): Show HG01891.hp2 HG02145.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	11	445	0.0247	-6	c.723 others(13): Show c.723_728delCCGAGA	p.Asp others(13): Show p.Asp241_Arg242del	NELFE	ENSG00000204356.14	transcript	ENST00000375429.8	protein_coding	7/11	816/1445	723/1143	241/380		chr6	TogoVar
NFKB2_chr10_102390705_102407524	102397259	GAAAGAAC others(40): Show GAAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCTTCTCAGATTTA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18979.hp1 NA18979.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0045 a0010c0008t0001g0045	1	424	0.0024	-47	c.396 others(57): Show c.396-41_401delAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCT TCTCAGATTTAA	p.Gln others(19): Show p.Gln132_Asn134delinsHis	NFKB2	ENSG00000077150.21	transcript	ENST00000661543.1	protein_coding	7/23		396/2703	132/900	INFO_REALIGN_3_PRIME	chr10	TogoVar
NHS_chrX_17370200_17740994	17375961	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG02622.hp2 HG02723.hp2 others(3): Show HG01106.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp1	a0005 a0007 a0008 a0005 a0007 a0008	a0005c0006 a0007c0009 a0008c0010 a0005c0006 a0007c0009 a0008c0010	a0005c0006t0001 a0005c0006t0005 a0005c0006t0008 others(2): Show a0005c0006t0001 a0005c0006t0005 a0005c0006t0008 a0007c0009t0002 a0008c0010t0003	a0005c0006t0001g0157 a0005c0006t0001g0162 a0005c0006t0005g0159 others(3): Show a0005c0006t0001g0157 a0005c0006t0001g0162 a0005c0006t0005g0159 a0005c0006t0008g0161 a0007c0009t0002g0160 a0008c0010t0003g0158	6	164	0.0366	-3	c.216 others(10): Show c.216_218delGCC	p.Pro others(5): Show p.Pro73del	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/9	774/9044	216/4956	72/1651	INFO_REALIGN_3_PRIME	chrX	TogoVar
NIM1K_chr5_43187225_43285850	43280594	TAGAGTCC others(20): Show TAGAGTCCAAAGGAAGAAGGCTTTGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	-27	c.117 others(36): Show c.1179_1205delAGTCCAAAGGAAGAAGGCTTTGGAAAG	p.Arg others(13): Show p.Arg393_Glu401del	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4	2060/2313	1179/1311	393/436	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPA1_chr15_22781644_22834789	22786677	AGCG AGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(127): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0002c0004 a0002c0005 others(2): Show a0002c0003 a0002c0004 a0002c0005 a0003c0006 a0005c0007	a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 others(26): Show a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0011 a0002c0003t0015 a0002c0003t0017 a0002c0003t0023 a0002c0003t0026 a0002c0003t0027 a0002c0003t0030 a0002c0003t0032 a0002c0003t0037 a0002c0003t0046 a0002c0003t0048 a0002c0004t0001 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0013 a0002c0004t0016 a0002c0004t0018 a0002c0004t0022 a0002c0005t0019 a0003c0006t0003 a0005c0007t0002	a0002c0003t0002g0023 a0002c0003t0002g0183 a0002c0003t0002g0186 others(127): Show a0002c0003t0002g0023 a0002c0003t0002g0183 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0195 a0002c0003t0002g0215 a0002c0003t0002g0222 a0002c0003t0002g0229 a0002c0003t0002g0241 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0022 a0002c0003t0003g0180 a0002c0003t0003g0189 a0002c0003t0003g0192 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0225 a0002c0003t0003g0227 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0235 a0002c0003t0003g0240 a0002c0003t0003g0253 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0261 a0002c0003t0004g0005 a0002c0003t0004g0157 a0002c0003t0004g0177 a0002c0003t0004g0182 a0002c0003t0004g0194 a0002c0003t0004g0196 a0002c0003t0004g0202 a0002c0003t0004g0203 a0002c0003t0004g0204 a0002c0003t0004g0205 a0002c0003t0004g0246 a0002c0003t0004g0247 a0002c0003t0004g0264 a0002c0003t0005g0181 a0002c0003t0005g0193 a0002c0003t0005g0226 a0002c0003t0005g0238 a0002c0003t0005g0239 a0002c0003t0005g0244 a0002c0003t0006g0201 a0002c0003t0007g0213 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0003t0008g0020 a0002c0003t0008g0021 a0002c0003t0011g0162 a0002c0003t0015g0178 a0002c0003t0015g0185 a0002c0003t0015g0218 a0002c0003t0015g0250 a0002c0003t0017g0267 a0002c0003t0017g0268 a0002c0003t0017g0269 a0002c0003t0017g0271 a0002c0003t0023g0248 a0002c0003t0023g0262 a0002c0003t0026g0228 a0002c0003t0027g0184 a0002c0003t0030g0010 a0002c0003t0032g0216 a0002c0003t0037g0206 a0002c0003t0046g0270 a0002c0003t0048g0098 a0002c0004t0001g0016 a0002c0004t0001g0077 a0002c0004t0001g0161 a0002c0004t0001g0168 a0002c0004t0001g0179 a0002c0004t0001g0187 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0197 a0002c0004t0001g0207 a0002c0004t0001g0214 a0002c0004t0001g0217 a0002c0004t0001g0237 a0002c0004t0001g0243 a0002c0004t0001g0245 a0002c0004t0001g0249 a0002c0004t0001g0260 a0002c0004t0001g0266 a0002c0004t0001g0281 a0002c0004t0001g0282 a0002c0004t0001g0283 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0344 a0002c0004t0001g0371 a0002c0004t0004g0198 a0002c0004t0006g0096 a0002c0004t0006g0097 a0002c0004t0006g0200 a0002c0004t0007g0166 a0002c0004t0007g0208 a0002c0004t0007g0209 a0002c0004t0007g0210 a0002c0004t0007g0211 a0002c0004t0007g0212 a0002c0004t0007g0265 a0002c0004t0013g0263 a0002c0004t0013g0272 a0002c0004t0016g0167 a0002c0004t0016g0169 a0002c0004t0018g0273 a0002c0004t0022g0326 a0002c0005t0019g0224 a0002c0005t0019g0233 a0002c0005t0019g0236 a0003c0006t0003g0242 a0003c0006t0003g0254 a0005c0007t0002g0011	130	400	0.3250	-3	c.45_ others(8): Show c.45_47delGGC	p.Ala others(5): Show p.Ala16del	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/5	58/6553	45/990	15/329	INFO_REALIGN_3_PRIME	chr15	TogoVar
NKAP_chrX_119915672_119948751	119936364	CGAT CGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG01099.hp1 HG01167.hp1 others(26): Show HG00639.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0012 a0002c0002t0014 others(1): Show a0002c0002t0004 a0002c0002t0012 a0002c0002t0014 a0002c0002t0036	a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0004g0028 others(20): Show a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0004g0028 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0113 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0136 a0002c0002t0004g0137 a0002c0002t0004g0138 a0002c0002t0012g0029 a0002c0002t0014g0134 a0002c0002t0036g0191	29	320	0.0906	-3	c.603 others(10): Show c.603_605delATC	p.Ser others(6): Show p.Ser202del	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	4/9	751/5942	603/1248	201/415		chrX	TogoVar
NKX2-3_chr10_99527942_99541524	99535517	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0002 a0005c0011t0002g0002	1	404	0.0025	-12	c.903 others(19): Show c.903_914delCGGCGGCGGCGG	p.Gly others(13): Show p.Gly302_Gly305del	NKX2-3	ENSG00000119919.12	transcript	ENST00000344586.9	protein_coding	2/2	1093/2088	903/1095	301/364	INFO_REALIGN_3_PRIME	chr10	TogoVar
NLRP6_chr11_273407_290388	281784	GAGA GAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03486.hp1 NA19043.hp1 others(1): Show HG03209.hp2 HG03486.hp1 NA19043.hp1 NA20129.hp2	a0010 a0017 a0010 a0017	a0010c0054 a0010c0056 a0010c0067 others(1): Show a0010c0054 a0010c0056 a0010c0067 a0017c0055	a0010c0054t0001 a0010c0056t0001 a0010c0067t0001 others(1): Show a0010c0054t0001 a0010c0056t0001 a0010c0067t0001 a0017c0055t0001	a0010c0054t0001g0116 a0010c0056t0001g0132 a0010c0067t0001g0106 others(1): Show a0010c0054t0001g0116 a0010c0056t0001g0132 a0010c0067t0001g0106 a0017c0055t0001g0129	4	446	0.0090	-3	c.206 others(12): Show c.2063_2065delAGA	p.Lys others(6): Show p.Lys688del	NLRP6	ENSG00000174885.13	transcript	ENST00000534750.6	protein_coding	4/8	2226/2923	2063/2676	688/891	INFO_REALIGN_3_PRIME	chr11	TogoVar
NOL9_chr1_6516347_6559513	6554393	AGCCGGCG others(5): Show AGCCGGCGGCGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0018 a0007c0013t0018	a0007c0013t0018g0123 a0007c0013t0018g0123	1	340	0.0029	-12	c.98_ others(18): Show c.98_109delCCCGCCGCCGGC	p.Pro others(11): Show p.Pro33_Arg36del	NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding	1/12	120/6627	98/2109	33/702		chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	AGGCGGCG others(5): Show AGGCGGCGGCGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19054.hp2 NA19054.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0002 a0024c0026t0002	a0024c0026t0002g0017 a0024c0026t0002g0017	1	260	0.0039	-12	c.33_ others(17): Show c.33_44delCGGCGGCGGCGG	p.Gly others(11): Show p.Gly12_Gly15del	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	200/8729	33/882	11/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390817	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0003 a0023c0027t0003	a0023c0027t0003g0197 a0023c0027t0003g0197	1	260	0.0039	-18	c.38_ others(23): Show c.38_55delGCGGCGGAGGAGGCGGCG	p.Gly others(11): Show p.Gly13_Gly18del	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	205/8729	38/882	13/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	TAGC TAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(194): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0006 others(19): Show a0001 a0004 a0006 a0008 a0010 a0015 a0016 a0017 a0020 a0024 a0025 a0030 a0031 a0032 a0033 a0039 a0040 a0041 a0042 a0043 a0044 a0045	a0001c0001 a0001c0025 a0001c0041 others(35): Show a0001c0001 a0001c0025 a0001c0041 a0001c0055 a0001c0056 a0001c0064 a0001c0067 a0004c0009 a0004c0012 a0004c0015 a0004c0059 a0004c0060 a0004c0062 a0006c0005 a0006c0021 a0008c0014 a0008c0016 a0008c0040 a0008c0063 a0010c0010 a0015c0018 a0016c0019 a0017c0026 a0017c0058 a0020c0024 a0024c0034 a0025c0033 a0030c0037 a0031c0042 a0032c0039 a0033c0038 a0039c0061 a0040c0065 a0041c0066 a0042c0053 a0043c0054 a0044c0057 a0045c0052	a0001c0001t0001 a0001c0001t0002 a0001c0025t0001 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0025t0001 a0001c0041t0001 a0001c0041t0004 a0001c0055t0001 a0001c0056t0001 a0001c0064t0001 a0001c0067t0002 a0004c0009t0001 a0004c0009t0002 a0004c0012t0001 a0004c0015t0001 a0004c0015t0002 a0004c0059t0001 a0004c0060t0001 a0004c0062t0002 a0006c0005t0001 a0006c0021t0001 a0008c0014t0002 a0008c0016t0001 a0008c0040t0002 a0008c0063t0001 a0010c0010t0001 a0015c0018t0001 a0016c0019t0001 a0017c0026t0001 a0017c0058t0002 a0020c0024t0001 a0024c0034t0001 a0025c0033t0001 a0025c0033t0002 a0030c0037t0001 a0031c0042t0001 a0032c0039t0001 a0032c0039t0002 a0033c0038t0001 a0033c0038t0002 a0039c0061t0001 a0040c0065t0001 a0041c0066t0001 a0042c0053t0002 a0043c0054t0002 a0044c0057t0001 a0045c0052t0001	a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0044 others(142): Show a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0025t0001g0023 a0001c0025t0001g0238 a0001c0041t0001g0231 a0001c0041t0004g0270 a0001c0055t0001g0278 a0001c0056t0001g0221 a0001c0064t0001g0230 a0001c0067t0002g0072 a0004c0009t0001g0204 a0004c0009t0001g0205 a0004c0009t0001g0207 a0004c0009t0001g0223 a0004c0009t0001g0226 a0004c0009t0001g0237 a0004c0009t0002g0015 a0004c0009t0002g0067 a0004c0009t0002g0068 a0004c0009t0002g0070 a0004c0009t0002g0088 a0004c0012t0001g0022 a0004c0012t0001g0041 a0004c0012t0001g0227 a0004c0012t0001g0228 a0004c0012t0001g0229 a0004c0012t0001g0233 a0004c0015t0001g0239 a0004c0015t0001g0256 a0004c0015t0001g0262 a0004c0015t0001g0263 a0004c0015t0001g0264 a0004c0015t0001g0269 a0004c0015t0002g0085 a0004c0015t0002g0086 a0004c0059t0001g0249 a0004c0060t0001g0235 a0004c0062t0002g0087 a0006c0005t0001g0002 a0006c0005t0001g0008 a0006c0005t0001g0042 a0006c0005t0001g0255 a0006c0005t0001g0258 a0006c0005t0001g0259 a0006c0005t0001g0260 a0006c0021t0001g0025 a0006c0021t0001g0253 a0006c0021t0001g0254 a0008c0014t0002g0031 a0008c0014t0002g0056 a0008c0014t0002g0062 a0008c0014t0002g0063 a0008c0014t0002g0064 a0008c0014t0002g0065 a0008c0014t0002g0071 a0008c0016t0001g0271 a0008c0016t0001g0272 a0008c0016t0001g0273 a0008c0016t0001g0274 a0008c0016t0001g0275 a0008c0016t0001g0276 a0008c0016t0001g0277 a0008c0040t0002g0060 a0008c0040t0002g0061 a0008c0063t0001g0243 a0010c0010t0001g0014 a0010c0010t0001g0024 a0010c0010t0001g0236 a0010c0010t0001g0241 a0010c0010t0001g0244 a0010c0010t0001g0245 a0010c0010t0001g0246 a0015c0018t0001g0013 a0015c0018t0001g0213 a0015c0018t0001g0214 a0016c0019t0001g0007 a0016c0019t0001g0252 a0017c0026t0001g0021 a0017c0026t0001g0209 a0017c0058t0002g0054 a0020c0024t0001g0026 a0020c0024t0001g0283 a0024c0034t0001g0240 a0024c0034t0001g0242 a0024c0034t0001g0257 a0025c0033t0001g0250 a0025c0033t0002g0066 a0025c0033t0002g0069 a0030c0037t0001g0040 a0031c0042t0001g0247 a0031c0042t0001g0248 a0032c0039t0001g0196 a0032c0039t0002g0055 a0033c0038t0001g0232 a0033c0038t0002g0059 a0039c0061t0001g0261 a0040c0065t0001g0234 a0041c0066t0001g0265 a0042c0053t0002g0058 a0043c0054t0002g0073 a0044c0057t0001g0222 a0045c0052t0001g0251	197	437	0.4508	-3	c.45_ others(8): Show c.45_47delGCT	p.Leu others(5): Show p.Leu16del	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	45/6012	15/2003		chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	TAGCAGCA others(5): Show TAGCAGCAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(51): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG01109.hp1 HG01891.hp1 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02293.hp1 HG02451.hp1 HG02698.hp2 HG02717.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG04199.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19011.hp2 NA19055.hp2 NA19075.hp1 NA19082.hp1 NA20300.hp2	a0003 a0013 a0019 others(5): Show a0003 a0013 a0019 a0023 a0035 a0036 a0037 a0038	a0003c0003 a0003c0032 a0003c0049 others(8): Show a0003c0003 a0003c0032 a0003c0049 a0013c0011 a0019c0031 a0019c0050 a0023c0030 a0035c0047 a0036c0048 a0037c0051 a0038c0046	a0003c0003t0001 a0003c0032t0001 a0003c0049t0001 others(10): Show a0003c0003t0001 a0003c0032t0001 a0003c0049t0001 a0013c0011t0001 a0013c0011t0002 a0019c0031t0001 a0019c0031t0005 a0019c0050t0001 a0023c0030t0001 a0035c0047t0001 a0036c0048t0001 a0037c0051t0001 a0038c0046t0001	a0003c0003t0001g0003 a0003c0003t0001g0038 a0003c0003t0001g0039 others(44): Show a0003c0003t0001g0003 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0193 a0003c0032t0001g0163 a0003c0032t0001g0164 a0003c0032t0001g0166 a0003c0049t0001g0175 a0013c0011t0001g0176 a0013c0011t0001g0190 a0013c0011t0001g0191 a0013c0011t0002g0048 a0013c0011t0002g0049 a0013c0011t0002g0050 a0013c0011t0002g0051 a0013c0011t0002g0052 a0013c0011t0002g0053 a0019c0031t0001g0194 a0019c0031t0001g0195 a0019c0031t0005g0167 a0019c0050t0001g0165 a0023c0030t0001g0158 a0023c0030t0001g0160 a0023c0030t0001g0161 a0035c0047t0001g0186 a0036c0048t0001g0192 a0037c0051t0001g0162 a0038c0046t0001g0159	54	437	0.1236	-12	c.36_ others(17): Show c.36_47delGCTGCTGCTGCT	p.Leu others(11): Show p.Leu13_Leu16del	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	36/6012	12/2003		chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	TAGCAGCA others(8): Show TAGCAGCAGCAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp2 NA19011.hp1 HG02135.hp2 NA19011.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0156 a0029c0036t0001g0157 a0029c0036t0001g0156 a0029c0036t0001g0157	2	437	0.0046	-15	c.33_ others(20): Show c.33_47delGCTGCTGCTGCTGCT	p.Leu others(11): Show p.Leu12_Leu16del	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	33/6012	11/2003		chr6	TogoVar
NPIPA5_chr16_15358628_15383294	15363740	CGCTGAGG others(5): Show CGCTGAGGGTGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp1 NA18985.hp1	a0000 a0000	a0000c0016 a0000c0016	a0000c0016t0004 a0000c0016t0004	a0000c0016t0004g0250 a0000c0016t0004g0250	1	430	0.0023	-12	c.960 others(19): Show c.960_971delTCCACCCTCAGC	p.Pro others(13): Show p.Pro321_Ala324del	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	971/1084	960/1053	320/350		chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15363750	GGAGCTGA others(62): Show GGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGCAGGTGTCTTGAG ATTATCATCCGCTGAGGGTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp1 HG02922.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0099 a0018c0021t0001g0099	1	430	0.0023	-69	c.893 others(76): Show c.893_961delTACCCTCAGCGGATGATAATCTCAAGACACCTGCCGAG TGTCTGCTCACTCCCCTTCCACCCTCAGCTC	p.Leu others(13): Show p.Leu298_Ala320del	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	961/1084	893/1053	298/350		chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15363809	CGCTGAGG others(5): Show CGCTGAGGGTAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp2 NA18979.hp2 NA19000.hp1 HG02602.hp2 NA18979.hp2 NA19000.hp1	a0009 a0013 a0009 a0013	a0009c0012 a0013c0023 a0009c0012 a0013c0023	a0009c0012t0003 a0013c0023t0003 a0009c0012t0003 a0013c0023t0003	a0009c0012t0003g0079 a0009c0012t0003g0136 a0013c0023t0003g0127 a0009c0012t0003g0079 a0009c0012t0003g0136 a0013c0023t0003g0127	3	430	0.0070	-12	c.891 others(19): Show c.891_902delTCTACCCTCAGC	p.Leu others(13): Show p.Leu298_Ala301del	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	902/1084	891/1053	297/350		chr16	TogoVar
NPIPA7_chr16_16374140_16398972	16393760	TTCCACCC others(62): Show TTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTC ACTCCCCTTCCACCCTCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0033 a0009c0015t0001g0033	1	132	0.0076	-69	c.984 others(77): Show c.984_1052delCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCA CCCTCAGCGGATGATAATCTCAAGACACCTCC	p.Glu others(13): Show p.Glu329_Pro351del	NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding	8/8	1089/1264	984/1110	328/369	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381749	GGCTGAGG others(119): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGTTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0106 a0001c0106	a0001c0106t0002 a0001c0106t0002	a0001c0106t0002g0268 a0001c0106t0002g0268	1	428	0.0023	-126	c.305 others(9): Show c.3057_3182del	p.Asp others(15): Show p.Asp1020_Ala1061del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5929/6369	3057/3486	1019/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381875	CGCTGAGG others(245): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGTTTGGAAGGTGTCTTGAGATTATCA TCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp2 HG02559.hp1 HG02818.hp2 HG02258.hp2 HG02559.hp1 HG02818.hp2	a0023 a0066 a0075 a0023 a0066 a0075	a0023c0110 a0066c0092 a0075c0100 a0023c0110 a0066c0092 a0075c0100	a0023c0110t0002 a0066c0092t0007 a0075c0100t0002 a0023c0110t0002 a0066c0092t0007 a0075c0100t0002	a0023c0110t0002g0312 a0066c0092t0007g0040 a0075c0100t0002g0313 a0023c0110t0002g0312 a0066c0092t0007g0040 a0075c0100t0002g0313	3	428	0.0070	-252	c.280 others(9): Show c.2805_3056del	p.Asp others(14): Show p.Asp936_Ala1019del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5803/6369	2805/3486	935/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29382284	TCCCCGCA others(119): Show TCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCGGCTGAGGGTGGAAGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00741.hp1 others(37): Show HG00099.hp2 HG00140.hp2 HG00741.hp1 HG01106.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG02132.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp1 NA18522.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18965.hp2 NA18969.hp1 NA19030.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0008 a0011 a0019 others(14): Show a0008 a0011 a0019 a0020 a0029 a0043 a0060 a0061 a0063 a0069 a0072 a0074 a0092 a0104 a0110 a0115 a0125	a0008c0010 a0008c0040 a0011c0011 others(15): Show a0008c0010 a0008c0040 a0011c0011 a0019c0018 a0020c0020 a0029c0028 a0043c0030 a0060c0143 a0061c0146 a0063c0088 a0069c0095 a0072c0113 a0074c0099 a0092c0064 a0104c0083 a0110c0157 a0115c0123 a0125c0137	a0008c0010t0002 a0008c0040t0002 a0011c0011t0003 others(18): Show a0008c0010t0002 a0008c0040t0002 a0011c0011t0003 a0011c0011t0013 a0019c0018t0001 a0020c0020t0010 a0020c0020t0028 a0029c0028t0001 a0043c0030t0001 a0043c0030t0037 a0060c0143t0003 a0061c0146t0003 a0063c0088t0002 a0069c0095t0002 a0072c0113t0002 a0074c0099t0002 a0092c0064t0009 a0104c0083t0010 a0110c0157t0001 a0115c0123t0001 a0125c0137t0002	a0008c0010t0002g0016 a0008c0010t0002g0261 a0008c0010t0002g0298 others(35): Show a0008c0010t0002g0016 a0008c0010t0002g0261 a0008c0010t0002g0298 a0008c0010t0002g0309 a0008c0010t0002g0314 a0008c0010t0002g0320 a0008c0040t0002g0231 a0008c0040t0002g0280 a0011c0011t0003g0341 a0011c0011t0003g0342 a0011c0011t0003g0343 a0011c0011t0003g0344 a0011c0011t0003g0372 a0011c0011t0013g0020 a0019c0018t0001g0128 a0019c0018t0001g0148 a0019c0018t0001g0174 a0019c0018t0001g0176 a0020c0020t0010g0374 a0020c0020t0010g0376 a0020c0020t0010g0377 a0020c0020t0028g0373 a0029c0028t0001g0090 a0029c0028t0001g0092 a0029c0028t0001g0196 a0043c0030t0001g0086 a0043c0030t0037g0397 a0060c0143t0003g0355 a0061c0146t0003g0350 a0063c0088t0002g0315 a0069c0095t0002g0236 a0072c0113t0002g0263 a0074c0099t0002g0238 a0092c0064t0009g0391 a0104c0083t0010g0375 a0110c0157t0001g0076 a0115c0123t0001g0122 a0125c0137t0002g0269	40	428	0.0935	-126	c.252 others(9): Show c.2522_2647del	p.Gly others(13): Show p.Gly841_Gly882del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5394/6369	2522/3486	841/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29382284	TCCCCGCA others(245): Show TCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGT CTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGA GCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGC GGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00597.hp2 HG00642.hp1 others(13): Show HG00099.hp1 HG00597.hp2 HG00642.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG02145.hp2 HG02280.hp2 HG02647.hp1 HG02922.hp1 NA18942.hp2 NA19079.hp1 NA20752.hp1	a0022 a0025 a0044 others(8): Show a0022 a0025 a0044 a0054 a0068 a0079 a0099 a0109 a0114 a0122 a0127	a0022c0023 a0025c0021 a0044c0043 others(8): Show a0022c0023 a0025c0021 a0044c0043 a0054c0147 a0068c0119 a0079c0104 a0099c0077 a0109c0134 a0114c0122 a0122c0132 a0127c0139	a0022c0023t0002 a0025c0021t0001 a0044c0043t0001 others(8): Show a0022c0023t0002 a0025c0021t0001 a0044c0043t0001 a0054c0147t0002 a0068c0119t0002 a0079c0104t0002 a0099c0077t0001 a0109c0134t0001 a0114c0122t0001 a0122c0132t0001 a0127c0139t0002	a0022c0023t0002g0015 a0022c0023t0002g0291 a0025c0021t0001g0003 others(10): Show a0022c0023t0002g0015 a0022c0023t0002g0291 a0025c0021t0001g0003 a0044c0043t0001g0094 a0044c0043t0001g0200 a0054c0147t0002g0278 a0068c0119t0002g0229 a0079c0104t0002g0293 a0099c0077t0001g0192 a0109c0134t0001g0074 a0114c0122t0001g0120 a0122c0132t0001g0118 a0127c0139t0002g0235	16	428	0.0374	-252	c.239 others(9): Show c.2396_2647del	p.Gly others(13): Show p.Gly799_Gly882del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5394/6369	2396/3486	799/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29382953	TGCTGAGG others(5): Show TGCTGAGGGTGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp2 HG06807.hp2	a0111 a0111	a0111c0135 a0111c0135	a0111c0135t0038 a0111c0135t0038	a0111c0135t0038g0398 a0111c0135t0038g0398	1	428	0.0023	-12	c.196 others(21): Show c.1967_1978delTCCACCCTCAGC	p.Leu others(13): Show p.Leu656_Gln659del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4725/6369	1967/3486	656/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383169	TGCAGATG others(245): Show TGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGTTGTCTTG ATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTG ACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCC CCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0033 a0033	a0033c0049 a0033c0049	a0033c0049t0003 a0033c0049t0003	a0033c0049t0003g0018 a0033c0049t0003g0018	2	428	0.0047	-252	c.151 others(9): Show c.1511_1762del	p.Arg others(13): Show p.Arg504_Leu587del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4509/6369	1511/3486	504/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383169	TGCAGATG others(497): Show TGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGTTGTCTTG ATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTG ACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCC CCCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA GCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATT ATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCT TGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGC TGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGG CCCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02486.hp1 HG02055.hp1 HG02486.hp1	a0042 a0042	a0042c0046 a0042c0046	a0042c0046t0015 a0042c0046t0015	a0042c0046t0015g0022 a0042c0046t0015g0022	2	428	0.0047	-504	c.125 others(9): Show c.1259_1762del	p.Arg others(13): Show p.Arg420_Leu587del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4509/6369	1259/3486	420/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(119): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 NA18943.hp1 HG02015.hp2 NA18943.hp1	a0072 a0073 a0072 a0073	a0072c0113 a0073c0112 a0072c0113 a0073c0112	a0072c0113t0002 a0073c0112t0002 a0072c0113t0002 a0073c0112t0002	a0072c0113t0002g0263 a0073c0112t0002g0247 a0072c0113t0002g0263 a0073c0112t0002g0247	2	428	0.0047	-126	c.155 others(9): Show c.1557_1682del	p.Glu others(13): Show p.Glu520_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1557/3486	519/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(371): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp2 NA19065.hp1 NA19002.hp2 NA19065.hp1	a0046 a0046	a0046c0045 a0046c0045	a0046c0045t0001 a0046c0045t0001	a0046c0045t0001g0007 a0046c0045t0001g0007	2	428	0.0047	-378	c.130 others(9): Show c.1305_1682del	p.Glu others(13): Show p.Glu436_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1305/3486	435/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(497): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCA TCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00738.hp2 HG01070.hp2 others(9): Show HG00323.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG02735.hp2 HG03239.hp1 NA20752.hp2	a0007 a0069 a0125 a0007 a0069 a0125	a0007c0007 a0007c0094 a0007c0118 others(2): Show a0007c0007 a0007c0094 a0007c0118 a0069c0095 a0125c0137	a0007c0007t0002 a0007c0094t0002 a0007c0118t0002 others(2): Show a0007c0007t0002 a0007c0094t0002 a0007c0118t0002 a0069c0095t0002 a0125c0137t0002	a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0287 others(7): Show a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0287 a0007c0007t0002g0288 a0007c0007t0002g0322 a0007c0007t0002g0334 a0007c0094t0002g0245 a0007c0118t0002g0300 a0069c0095t0002g0236 a0125c0137t0002g0269	12	428	0.0280	-504	c.117 others(9): Show c.1179_1682del	p.Glu others(13): Show p.Glu394_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1179/3486	393/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383301	TGCTCGGC others(497): Show TGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCG CTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATATTA TCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTC AGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(55): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02523.hp2 HG02922.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1	a0003 a0044 a0045 others(11): Show a0003 a0044 a0045 a0053 a0112 a0114 a0115 a0116 a0117 a0118 a0121 a0122 a0123 a0133	a0003c0002 a0003c0130 a0003c0160 others(13): Show a0003c0002 a0003c0130 a0003c0160 a0044c0043 a0045c0044 a0053c0155 a0112c0121 a0114c0122 a0115c0123 a0116c0126 a0117c0127 a0118c0125 a0121c0124 a0122c0132 a0123c0133 a0133c0056	a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 others(15): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 a0003c0130t0001 a0003c0160t0001 a0044c0043t0001 a0045c0044t0001 a0053c0155t0001 a0112c0121t0001 a0114c0122t0001 a0115c0123t0001 a0116c0126t0033 a0117c0127t0006 a0118c0125t0001 a0121c0124t0001 a0122c0132t0001 a0123c0133t0009 a0133c0056t0001	a0003c0002t0001g0008 a0003c0002t0001g0083 a0003c0002t0001g0095 others(54): Show a0003c0002t0001g0008 a0003c0002t0001g0083 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0098 a0003c0002t0001g0099 a0003c0002t0001g0100 a0003c0002t0001g0102 a0003c0002t0001g0104 a0003c0002t0001g0106 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0111 a0003c0002t0001g0112 a0003c0002t0001g0114 a0003c0002t0001g0115 a0003c0002t0001g0117 a0003c0002t0001g0119 a0003c0002t0001g0121 a0003c0002t0001g0124 a0003c0002t0001g0126 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0002g0326 a0003c0002t0002g0327 a0003c0002t0002g0328 a0003c0002t0006g0214 a0003c0002t0006g0215 a0003c0002t0006g0216 a0003c0002t0006g0217 a0003c0002t0006g0218 a0003c0002t0006g0219 a0003c0002t0006g0220 a0003c0002t0006g0222 a0003c0002t0006g0223 a0003c0002t0006g0224 a0003c0002t0006g0225 a0003c0002t0006g0226 a0003c0130t0001g0123 a0003c0160t0001g0204 a0044c0043t0001g0094 a0044c0043t0001g0200 a0045c0044t0001g0103 a0045c0044t0001g0125 a0053c0155t0001g0116 a0112c0121t0001g0107 a0114c0122t0001g0120 a0115c0123t0001g0122 a0116c0126t0033g0382 a0117c0127t0006g0221 a0118c0125t0001g0101 a0121c0124t0001g0097 a0122c0132t0001g0118 a0123c0133t0009g0392 a0133c0056t0001g0113	58	428	0.1355	-504	c.112 others(9): Show c.1127_1630del	p.Arg others(13): Show p.Arg376_Glu543del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4377/6369	1127/3486	376/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383427	TGCTCGGC others(119): Show TGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCGG CTGAGGGTGGAAGCGGCCCCCGCAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18982.hp1 NA18982.hp1	a0093 a0093	a0093c0068 a0093c0068	a0093c0068t0005 a0093c0068t0005	a0093c0068t0005g0052 a0093c0068t0005g0052	1	428	0.0023	-126	c.137 others(9): Show c.1379_1504del	p.Arg others(13): Show p.Arg460_Glu501del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4251/6369	1379/3486	460/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383507	TGTCTTGA others(110): Show TGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCT CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0071 a0071	a0071c0096 a0071c0096	a0071c0096t0027 a0071c0096t0027	a0071c0096t0027g0316 a0071c0096t0027g0316	1	428	0.0023	-117	c.130 others(9): Show c.1308_1424del	p.Arg others(13): Show p.Arg437_Thr475del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4171/6369	1308/3486	436/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383679	TGCTCGGC others(119): Show TGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCG CTGAGGGTGGAAGCGGCCCCCGCAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18994.hp1 NA18994.hp1	a0088 a0088	a0088c0063 a0088c0063	a0088c0063t0001 a0088c0063t0001	a0088c0063t0001g0164 a0088c0063t0001g0164	1	428	0.0023	-126	c.112 others(9): Show c.1127_1252del	p.Arg others(13): Show p.Arg376_Glu417del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3999/6369	1127/3486	376/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383753	AGAAGGTG others(119): Show AGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18964.hp2 NA18964.hp2	a0087 a0087	a0087c0087 a0087c0087	a0087c0087t0001 a0087c0087t0001	a0087c0087t0001g0167 a0087c0087t0001g0167	1	428	0.0023	-126	c.105 others(9): Show c.1053_1178del	p.Glu others(13): Show p.Glu352_Ser393del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3925/6369	1053/3486	351/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383823	ATAT ATAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01123.hp1 HG01515.hp1 NA20752.hp1 HG01123.hp1 HG01515.hp1 NA20752.hp1	a0035 a0068 a0035 a0068	a0035c0042 a0068c0119 a0035c0042 a0068c0119	a0035c0042t0002 a0068c0119t0002 a0035c0042t0002 a0068c0119t0002	a0035c0042t0002g0228 a0035c0042t0002g0246 a0068c0119t0002g0229 a0035c0042t0002g0228 a0035c0042t0002g0246 a0068c0119t0002g0229	3	428	0.0070	-3	c.110 others(12): Show c.1106_1108delATA	p.Asn others(6): Show p.Asn369del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3855/6369	1106/3486	369/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383960	CGCTGAGG others(5): Show CGCTGAGGGTGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01256.hp2 HG02523.hp1 HG03579.hp1 HG01256.hp2 HG02523.hp1 HG03579.hp1	a0062 a0063 a0064 a0062 a0063 a0064	a0062c0089 a0063c0088 a0064c0059 a0062c0089 a0063c0088 a0064c0059	a0062c0089t0002 a0063c0088t0002 a0064c0059t0001 a0062c0089t0002 a0063c0088t0002 a0064c0059t0001	a0062c0089t0002g0227 a0063c0088t0002g0315 a0064c0059t0001g0189 a0062c0089t0002g0227 a0063c0088t0002g0315 a0064c0059t0001g0189	3	428	0.0070	-12	c.960 others(19): Show c.960_971delTCCACCCTCAGC	p.Pro others(13): Show p.Pro321_Ala324del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3718/6369	960/3486	320/1161		chr16	TogoVar

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Search Results (Total: 1873 hits)