JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
PRDM9_chr5_23502609_23533093	23527530	C C	CTGGCAGT others(77): Show CTGGCAGTCAGTCCTCCTCAGACACCAGAGGACACACACAGGGGAGAAGC CCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp1 HG00738.hp1 HG01175.hp1 others(31): Show HG00735.hp1 HG00738.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp2 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG04184.hp2 NA18947.hp2 NA18964.hp1 NA18966.hp1 NA18989.hp2 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0003 a0005 a0012 others(6): Show a0003 a0005 a0012 a0013 a0018 a0027 a0029 a0041 a0049	a0003c0003 a0005c0008 a0012c0011 others(6): Show a0003c0003 a0005c0008 a0012c0011 a0013c0022 a0018c0023 a0027c0059 a0029c0031 a0041c0057 a0049c0026	a0003c0003t0001 a0005c0008t0001 a0012c0011t0001 others(6): Show a0003c0003t0001 a0005c0008t0001 a0012c0011t0001 a0013c0022t0001 a0018c0023t0001 a0027c0059t0007 a0029c0031t0001 a0041c0057t0001 a0049c0026t0001	a0003c0003t0001g0009 a0003c0003t0001g0028 a0003c0003t0001g0031 others(25): Show a0003c0003t0001g0009 a0003c0003t0001g0028 a0003c0003t0001g0031 a0003c0003t0001g0053 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0125 a0003c0003t0001g0164 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0005c0008t0001g0020 a0005c0008t0001g0089 a0012c0011t0001g0076 a0012c0011t0001g0171 a0012c0011t0001g0172 a0013c0022t0001g0033 a0013c0022t0001g0188 a0018c0023t0001g0049 a0018c0023t0001g0088 a0027c0059t0007g0069 a0029c0031t0001g0052 a0041c0057t0001g0091 a0049c0026t0001g0150	34	424	0.0802	84	c.244 others(93): Show c.2442_2443insTGGCAGTCAGTCCTCCTCAGACACCAGAGGACACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGA	p.Ser others(97): Show p.Ser814_Asn815insTrpGlnSerValLeuLeuArgHisGlnArgTh rHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPheA rg	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2631/3193	2443/2685	815/894		chr5	TogoVar
PRKD1_chr14_29571479_29932847	29927416	G G	GCCCGGA GCCCGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02056.hp1 HG02486.hp2 HG02602.hp1 others(7): Show HG02056.hp1 HG02486.hp2 HG02602.hp1 HG03654.hp2 NA18747.hp2 NA18978.hp1 NA18983.hp1 NA19001.hp1 NA19012.hp1 NA19064.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002	a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0130 others(7): Show a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0130 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0005t0001g0128 a0002c0005t0001g0131 a0002c0005t0002g0129 a0002c0005t0002g0135	10	156	0.0641	6	c.91_ others(11): Show c.91_96dupTCCGGG	p.Gly others(17): Show p.Gly32_Pro33insSerGly	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/18	431/3833	96/2739	32/912		chr14	TogoVar
PRMT2_chr21_46630674_46670124	46663461	A A	AAATCAAG others(35): Show AAATCAAGGAGTTTATCTTTTTGTTCATCTATGTATTCAAGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0111 a0002c0004t0003g0111	1	426	0.0024	42	c.117 others(51): Show c.1176_1177insAATCAAGGAGTTTATCTTTTTGTTCATCTATGTATT CAAGTT	p.Ser others(55): Show p.Ser392_Val393insAsnGlnGlyValTyrLeuPheValHisLeuCy sIleGlnVal	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	11/12	1432/2354	1177/1302	393/433		chr21	TogoVar
PRR36_chr19_7863719_7879390	7870311	C C	CGTGGAGG others(86): Show CGTGGAGGGGGCGTGGCCGAAGGAGACATTGGGGGAGAGGCAGGGGGAGA GGGTGGGACCTGCAGAGGAGGCGCAGCGAGAGGGGGTGGGGCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0043 a0010c0043	a0010c0043t0001 a0010c0043t0001	a0010c0043t0001g0034 a0010c0043t0001g0034	1	386	0.0026	93	c.284 others(102): Show c.2840_2932dupAGGCCCCACCCCCTCTCGCTGCGCCTCCTCTGCAGG TCCCACCCTCTCCCCCTGCCTCTCCCCCAATGTCTCCTTCGGCCACGCCC CCTCCAC	p.Gln others(13): Show p.Gln947_Pro977dup	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	3044/4467	2932/4041	978/1346		chr19	TogoVar
PRR36_chr19_7863719_7879390	7870537	C C	CAGGGGGA others(29): Show CAGGGGGAGAGAAAGGGGCCTGCACTGGGGGTGAGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG03669.hp2 NA18522.hp1 HG02965.hp2 HG03669.hp2 NA18522.hp1	a0011 a0032 a0011 a0032	a0011c0017 a0032c0027 a0011c0017 a0032c0027	a0011c0017t0001 a0032c0027t0001 a0011c0017t0001 a0032c0027t0001	a0011c0017t0001g0021 a0032c0027t0001g0051 a0011c0017t0001g0021 a0032c0027t0001g0051	3	386	0.0078	36	c.267 others(45): Show c.2671_2706dupCCCTCACCCCCAGTGCAGGCCCCTTTCTCTCCCCCT	p.Pro others(49): Show p.Pro902_Ala903insProSerProProValGlnAlaProPheSerPr oPro	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	2818/4467	2706/4041	902/1346		chr19	TogoVar
PRRG2_chr19_49576316_49596004	49589960	T T	TCCACCC TCCACCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01070.hp2 HG01071.hp2 HG01175.hp2 others(15): Show HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG02145.hp1 HG02486.hp1 HG02723.hp1 HG02818.hp1 HG03453.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp2 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0024 a0003c0003t0003g0043 a0003c0003t0003g0044 others(9): Show a0003c0003t0003g0024 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0169 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0178	18	346	0.0520	6	c.514 others(13): Show c.514_519dupCCCCCA	p.Pro others(13): Show p.Pro172_Pro173dup	PRRG2	ENSG00000126460.11	transcript	ENST00000246794.10	protein_coding	6/7	699/1403	520/609	174/202	INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76709219	A A	ATGACTGT others(5): Show ATGACTGTTGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00408.hp1 HG00597.hp1 others(122): Show HG00140.hp2 HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(21): Show a0001 a0004 a0006 a0007 a0008 a0010 a0011 a0013 a0014 a0019 a0020 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0042	a0001c0001 a0001c0011 a0001c0028 others(29): Show a0001c0001 a0001c0011 a0001c0028 a0001c0032 a0001c0044 a0001c0045 a0004c0004 a0004c0029 a0006c0007 a0006c0009 a0007c0006 a0008c0008 a0010c0013 a0011c0018 a0011c0041 a0013c0020 a0014c0019 a0019c0024 a0020c0058 a0025c0048 a0026c0042 a0027c0046 a0028c0047 a0029c0043 a0030c0049 a0031c0050 a0032c0040 a0033c0030 a0034c0039 a0035c0027 a0036c0038 a0042c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0011t0001 a0001c0011t0005 a0001c0028t0007 a0001c0032t0001 a0001c0044t0001 a0001c0045t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0004t0017 a0004c0004t0023 a0004c0029t0001 a0006c0007t0001 a0006c0009t0001 a0006c0009t0005 a0006c0009t0009 a0006c0009t0011 a0006c0009t0016 a0007c0006t0001 a0007c0006t0008 a0007c0006t0018 a0007c0006t0021 a0008c0008t0001 a0008c0008t0010 a0008c0008t0013 a0010c0013t0001 a0010c0013t0002 a0011c0018t0005 a0011c0018t0019 a0011c0041t0001 a0013c0020t0008 a0013c0020t0014 a0014c0019t0004 a0014c0019t0025 a0019c0024t0002 a0020c0058t0032 a0025c0048t0001 a0026c0042t0001 a0027c0046t0004 a0028c0047t0004 a0029c0043t0001 a0030c0049t0002 a0031c0050t0006 a0032c0040t0005 a0033c0030t0016 a0034c0039t0003 a0035c0027t0003 a0036c0038t0005 a0042c0037t0008	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 others(122): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0002g0129 a0001c0001t0002g0165 a0001c0001t0003g0060 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0185 a0001c0001t0003g0192 a0001c0001t0003g0217 a0001c0001t0004g0027 a0001c0001t0004g0045 a0001c0001t0004g0134 a0001c0001t0004g0157 a0001c0001t0005g0030 a0001c0001t0006g0069 a0001c0001t0006g0153 a0001c0001t0007g0044 a0001c0001t0007g0213 a0001c0001t0007g0228 a0001c0001t0010g0066 a0001c0001t0010g0221 a0001c0001t0018g0102 a0001c0001t0020g0237 a0001c0001t0020g0238 a0001c0001t0026g0071 a0001c0001t0027g0026 a0001c0001t0030g0082 a0001c0001t0031g0127 a0001c0011t0001g0179 a0001c0011t0001g0180 a0001c0011t0005g0232 a0001c0028t0007g0053 a0001c0032t0001g0065 a0001c0044t0001g0051 a0001c0045t0003g0226 a0004c0004t0001g0021 a0004c0004t0001g0038 a0004c0004t0001g0042 a0004c0004t0001g0062 a0004c0004t0001g0076 a0004c0004t0001g0079 a0004c0004t0001g0086 a0004c0004t0001g0125 a0004c0004t0001g0133 a0004c0004t0001g0197 a0004c0004t0001g0203 a0004c0004t0001g0207 a0004c0004t0001g0214 a0004c0004t0001g0220 a0004c0004t0001g0222 a0004c0004t0002g0043 a0004c0004t0002g0093 a0004c0004t0002g0163 a0004c0004t0002g0193 a0004c0004t0002g0196 a0004c0004t0003g0227 a0004c0004t0007g0074 a0004c0004t0017g0036 a0004c0004t0023g0072 a0004c0029t0001g0078 a0006c0007t0001g0020 a0006c0007t0001g0037 a0006c0007t0001g0052 a0006c0007t0001g0068 a0006c0007t0001g0077 a0006c0007t0001g0121 a0006c0009t0001g0184 a0006c0009t0005g0188 a0006c0009t0009g0033 a0006c0009t0011g0009 a0006c0009t0016g0100 a0007c0006t0001g0131 a0007c0006t0001g0178 a0007c0006t0001g0186 a0007c0006t0008g0006 a0007c0006t0008g0007 a0007c0006t0018g0187 a0007c0006t0021g0240 a0008c0008t0001g0113 a0008c0008t0001g0118 a0008c0008t0010g0063 a0008c0008t0010g0209 a0008c0008t0013g0198 a0008c0008t0013g0201 a0010c0013t0001g0041 a0010c0013t0001g0061 a0010c0013t0002g0123 a0011c0018t0005g0148 a0011c0018t0019g0140 a0011c0041t0001g0110 a0013c0020t0008g0002 a0013c0020t0014g0028 a0014c0019t0004g0225 a0014c0019t0025g0034 a0019c0024t0002g0087 a0020c0058t0032g0171 a0025c0048t0001g0057 a0026c0042t0001g0111 a0027c0046t0004g0230 a0028c0047t0004g0120 a0029c0043t0001g0204 a0030c0049t0002g0017 a0031c0050t0006g0112 a0032c0040t0005g0159 a0033c0030t0016g0158 a0034c0039t0003g0191 a0035c0027t0003g0210 a0036c0038t0005g0039 a0042c0037t0008g0008	125	240	0.5208	12	c.304 others(21): Show c.3043_3054dupCTGCAACAGTCA	p.Ser others(27): Show p.Ser1018_Ser1019insLeuGlnGlnSer	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	8/19	3205/12612	3054/9267	1018/3088		chr9	TogoVar
PSD_chr10_102397619_102423785	102403288	A A	AGGGGGGG others(8): Show AGGGGGGGGGGAGGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19078.hp2 NA19078.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0131 a0008c0010t0006g0131	1	388	0.0026	15	c.298 others(24): Show c.2986_2987insCCCCTCCCCCCCCCC	p.Ser others(28): Show p.Ser995_Leu996insProProProProPro	PSD	ENSG00000059915.17	transcript	ENST00000020673.6	protein_coding	17/17	3154/3824	2986/3075	996/1024		chr10	TogoVar
PTGDR2_chr11_60845933_60860950	60852693	T T	TGCG TGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp1 HG02970.hp1 HG03471.hp2 others(1): Show HG02622.hp1 HG02970.hp1 HG03471.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0021 a0003c0004t0007g0023 a0003c0004t0007g0021 a0003c0004t0007g0023	4	406	0.0099	3	c.102 others(12): Show c.1027_1029dupCGC	p.Arg others(6): Show p.Arg343dup	PTGDR2	ENSG00000183134.5	transcript	ENST00000332539.5	protein_coding	2/2	1120/2881	1029/1188	343/395		chr11	TogoVar
PTH2_chr19_49417419_49428441	49423273	C C	CCAG CCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp2 HG02965.hp2 HG03471.hp2 others(1): Show HG02572.hp2 HG02965.hp2 HG03471.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	4	444	0.0090	3	c.64_ others(8): Show c.64_66dupCTG	p.Leu others(5): Show p.Leu22dup	PTH2	ENSG00000142538.2	transcript	ENST00000270631.2	protein_coding	1/2	168/454	66/303	22/100		chr19	TogoVar
PTPN22_chr1_113808811_113876712	113838118	A A	AATT AATT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0029 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0029	3	358	0.0084	3	c.127 others(12): Show c.1279_1281dupAAT	p.Asn others(6): Show p.Asn427dup	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	13/21	1370/3607	1281/2424	427/807		chr1	TogoVar
PTPRJ_chr11_47975559_48175839	47980920	C C	CGGCGGCG others(14): Show CGGCGGCGCGGGAGGCGCGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp2 HG01106.hp2	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0052 a0012c0029t0052	a0012c0029t0052g0182 a0012c0029t0052g0182	1	216	0.0046	21	c.10_ others(26): Show c.10_30dupGCGGCGCGGGAGGCGCGGCTG	p.Ala others(10): Show p.Ala4_Leu10dup	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/25	385/7845	31/4014	11/1337	INFO_REALIGN_3_PRIME	chr11	TogoVar
PXMP2_chr12_132682587_132709985	132687721	G G	GCCGCGGC others(8): Show GCCGCGGCGGGCGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0051 a0004c0006t0002g0051	1	350	0.0029	15	c.52_ others(20): Show c.52_66dupCCGCGGCGGGCGCTC	p.Pro others(11): Show p.Pro18_Leu22dup	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/5	151/970	67/588	23/195	INFO_REALIGN_3_PRIME	chr12	TogoVar
QSER1_chr11_32887811_32985270	32893276	A A	AGCAGCAG others(11): Show AGCAGCAGCTGCAGCAGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG02895.hp1 HG02895.hp2 others(1): Show HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0089 a0005c0009t0001g0090 a0005c0009t0001g0091 others(1): Show a0005c0009t0001g0089 a0005c0009t0001g0090 a0005c0009t0001g0091 a0005c0009t0001g0092	4	236	0.0170	18	c.157 others(25): Show c.157_174dupAGCTGCAGCAGTGGCAGC	p.Ser others(11): Show p.Ser53_Ser58dup	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	1/13	490/9706	175/5595	59/1864	INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB44_chr6_36692826_36738184	36721185	C C	CAGGCTGC others(11): Show CAGGCTGCCTCCCCTGAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02976.hp1 NA18906.hp2 HG02109.hp2 HG02976.hp1 NA18906.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0029 a0007c0011t0002 a0007c0011t0029	a0007c0011t0002g0015 a0007c0011t0029g0214 a0007c0011t0002g0015 a0007c0011t0029g0214	3	428	0.0070	18	c.106 others(27): Show c.1068_1069insAAGGCTGCCTCCCCTGAG	p.Glu others(31): Show p.Glu356_Glu357insLysAlaAlaSerProGlu	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	9/14	1171/4259	1069/3066	357/1021	INFO_REALIGN_3_PRIME	chr6	TogoVar
RALGDS_chr9_133092722_133126240	133108184	T T	TCCAGAGC others(23): Show TCCAGAGCTGGCGCTGGAGCCGATTCTAGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02735.hp1 HG02735.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0001 a0006c0034t0001	a0006c0034t0001g0146 a0006c0034t0001g0146	1	424	0.0024	30	c.971 others(38): Show c.971_1000dupGACTAGAATCGGCTCCAGCGCCAGCTCTGG	p.Gly others(13): Show p.Gly324_Leu333dup	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	6/18	1086/3696	1000/2745	334/914		chr9	TogoVar
RALY_chr20_33988911_34089884	34077058	C C	CCAG CCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(189): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.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 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0009 a0010	a0001c0001 a0001c0003 a0003c0004 others(4): Show a0001c0001 a0001c0003 a0003c0004 a0005c0007 a0007c0009 a0009c0012 a0010c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0003 a0003c0004t0004 a0003c0004t0013 a0003c0004t0027 a0005c0007t0004 a0007c0009t0003 a0009c0012t0004 a0010c0011t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0058 others(189): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0046 a0001c0001t0004g0055 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0051 a0001c0001t0006g0085 a0001c0001t0006g0090 a0001c0001t0006g0097 a0001c0001t0006g0282 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0008g0283 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0009g0016 a0001c0001t0009g0126 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0014g0031 a0001c0001t0014g0032 a0001c0001t0016g0160 a0001c0001t0018g0002 a0001c0001t0024g0008 a0001c0001t0025g0057 a0001c0001t0026g0056 a0001c0001t0028g0278 a0001c0001t0029g0084 a0001c0001t0030g0143 a0001c0001t0031g0140 a0001c0001t0032g0092 a0001c0001t0033g0010 a0001c0001t0034g0009 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0186 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0199 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0004g0022 a0003c0004t0004g0033 a0003c0004t0004g0036 a0003c0004t0004g0038 a0003c0004t0004g0039 a0003c0004t0004g0040 a0003c0004t0004g0041 a0003c0004t0004g0042 a0003c0004t0004g0044 a0003c0004t0004g0045 a0003c0004t0004g0047 a0003c0004t0004g0048 a0003c0004t0004g0049 a0003c0004t0004g0050 a0003c0004t0013g0053 a0003c0004t0013g0054 a0003c0004t0027g0034 a0005c0007t0004g0035 a0005c0007t0004g0037 a0005c0007t0004g0043 a0007c0009t0003g0006 a0007c0009t0003g0007 a0009c0012t0004g0001 a0010c0011t0001g0125	192	290	0.6621	3	c.690 others(10): Show c.690_691insAGC	p.Ala others(16): Show p.Ala230_Gly231insSer	RALY	ENSG00000125970.12	transcript	ENST00000246194.8	protein_coding	8/10	1004/6213	691/921	231/306	INFO_REALIGN_3_PRIME	chr20	TogoVar
RALY_chr20_33988911_34089884	34077059	C C	CAGT CAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01099.hp2 HG01258.hp2 HG01516.hp2 others(2): Show HG01099.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0115 a0001c0005t0006g0116 a0001c0005t0006g0117 others(2): Show a0001c0005t0006g0115 a0001c0005t0006g0116 a0001c0005t0006g0117 a0001c0005t0006g0118 a0001c0005t0006g0119	5	290	0.0172	3	c.690 others(10): Show c.690_691insAGT	p.Ala others(16): Show p.Ala230_Gly231insSer	RALY	ENSG00000125970.12	transcript	ENST00000246194.8	protein_coding	8/10	1004/6213	691/921	231/306		chr20	TogoVar
RANBP9_chr6_13616498_13716835	13711474	T T	TGCG TGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG01243.hp1 HG02071.hp1 others(12): Show HG00408.hp2 HG01243.hp1 HG02071.hp1 HG02486.hp2 NA18945.hp2 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18967.hp1 NA18970.hp2 NA18993.hp1 NA19058.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 a0002c0003 a0002c0004 a0002c0005	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001	a0002c0003t0001g0338 a0002c0003t0001g0339 a0002c0003t0001g0340 others(12): Show a0002c0003t0001g0338 a0002c0003t0001g0339 a0002c0003t0001g0340 a0002c0003t0001g0341 a0002c0003t0001g0342 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0002g0337 a0002c0003t0002g0348 a0002c0004t0001g0335 a0002c0004t0001g0336 a0002c0004t0002g0334 a0002c0005t0001g0343 a0002c0005t0001g0344 a0002c0005t0001g0345	15	360	0.0417	3	c.29_ others(8): Show c.29_31dupCGC	p.Pro others(5): Show p.Pro10dup	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	1/14	361/3384	31/2190	11/729		chr6	TogoVar
RAPGEF3_chr12_47729363_47763880	47751144	A A	ACGGGCT ACGGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG02886.hp2 NA19240.hp2 HG01884.hp2 HG02886.hp2 NA19240.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0015 a0006c0006t0015	a0006c0006t0015g0023 a0006c0006t0015g0023	3	430	0.0070	6	c.569 others(13): Show c.569_574dupAGCCCG	p.Glu others(13): Show p.Glu190_Pro191dup	RAPGEF3	ENSG00000079337.16	transcript	ENST00000449771.7	protein_coding	6/28	898/6300	574/2772	192/923		chr12	TogoVar
RASD1_chr17_17489437_17501395	17495126	T T	TAGCTGAT others(5): Show TAGCTGATGACGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18993.hp1 NA18993.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0017 a0004c0004t0002g0017	1	434	0.0023	12	c.833 others(19): Show c.833_844dupGCGTCATCAGCT	p.Cys others(13): Show p.Cys278_Ser281dup	RASD1	ENSG00000108551.5	transcript	ENST00000225688.4	protein_coding	2/2	1058/1748	844/846	282/281		chr17	TogoVar
RBM19_chr12_113817057_113971325	113955166	C C	CGGT CGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01099.hp2 HG01257.hp1 HG01258.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp2	a0008 a0008	a0008c0016 a0008c0022 a0008c0016 a0008c0022	a0008c0016t0004 a0008c0022t0001 a0008c0016t0004 a0008c0022t0001	a0008c0016t0004g0145 a0008c0016t0004g0147 a0008c0022t0001g0146 a0008c0016t0004g0145 a0008c0016t0004g0147 a0008c0022t0001g0146	3	356	0.0084	3	c.883 others(10): Show c.883_885dupACC	p.Thr others(6): Show p.Thr295dup	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	7/24	983/4148	885/2883	295/960		chr12	TogoVar
RBM23_chr14_22888204_22924149	22902046	G G	GGGC GGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0007 a0008 a0010 a0013	a0002c0002 a0002c0005 a0003c0003 others(6): Show a0002c0002 a0002c0005 a0003c0003 a0003c0011 a0006c0012 a0007c0014 a0008c0019 a0010c0015 a0013c0018	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(52): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0021 a0002c0002t0023 a0002c0002t0031 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0055 a0002c0002t0057 a0002c0002t0058 a0002c0002t0061 a0002c0002t0063 a0002c0002t0064 a0002c0002t0066 a0002c0002t0068 a0002c0002t0072 a0002c0002t0091 a0002c0002t0092 a0002c0005t0002 a0002c0005t0003 a0002c0005t0015 a0002c0005t0026 a0002c0005t0037 a0002c0005t0078 a0002c0005t0082 a0002c0005t0087 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0003t0022 a0003c0003t0031 a0003c0003t0033 a0003c0003t0034 a0003c0003t0046 a0003c0003t0054 a0003c0003t0059 a0003c0003t0065 a0003c0003t0067 a0003c0003t0070 a0003c0003t0071 a0003c0003t0075 a0003c0003t0076 a0003c0011t0027 a0003c0011t0039 a0006c0012t0001 a0007c0014t0001 a0008c0019t0001 a0010c0015t0001 a0013c0018t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 others(169): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0029 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0004g0012 a0002c0002t0004g0084 a0002c0002t0004g0128 a0002c0002t0004g0133 a0002c0002t0004g0155 a0002c0002t0005g0107 a0002c0002t0005g0146 a0002c0002t0005g0148 a0002c0002t0011g0122 a0002c0002t0013g0049 a0002c0002t0013g0052 a0002c0002t0013g0111 a0002c0002t0013g0170 a0002c0002t0021g0139 a0002c0002t0021g0141 a0002c0002t0021g0153 a0002c0002t0023g0088 a0002c0002t0023g0163 a0002c0002t0023g0164 a0002c0002t0031g0124 a0002c0002t0048g0113 a0002c0002t0049g0087 a0002c0002t0050g0118 a0002c0002t0051g0106 a0002c0002t0052g0123 a0002c0002t0055g0140 a0002c0002t0057g0081 a0002c0002t0058g0220 a0002c0002t0061g0105 a0002c0002t0063g0110 a0002c0002t0064g0117 a0002c0002t0066g0077 a0002c0002t0068g0160 a0002c0002t0072g0030 a0002c0002t0091g0325 a0002c0002t0092g0326 a0002c0005t0002g0243 a0002c0005t0002g0289 a0002c0005t0003g0255 a0002c0005t0003g0260 a0002c0005t0003g0272 a0002c0005t0015g0271 a0002c0005t0026g0016 a0002c0005t0026g0248 a0002c0005t0037g0021 a0002c0005t0078g0259 a0002c0005t0082g0298 a0002c0005t0087g0311 a0003c0003t0001g0001 a0003c0003t0001g0028 a0003c0003t0001g0047 a0003c0003t0001g0062 a0003c0003t0001g0073 a0003c0003t0001g0080 a0003c0003t0001g0082 a0003c0003t0001g0086 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0103 a0003c0003t0001g0116 a0003c0003t0001g0119 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0131 a0003c0003t0001g0137 a0003c0003t0001g0145 a0003c0003t0001g0149 a0003c0003t0001g0166 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0185 a0003c0003t0001g0187 a0003c0003t0001g0194 a0003c0003t0004g0061 a0003c0003t0004g0090 a0003c0003t0004g0095 a0003c0003t0004g0156 a0003c0003t0005g0014 a0003c0003t0005g0068 a0003c0003t0005g0070 a0003c0003t0005g0143 a0003c0003t0005g0147 a0003c0003t0022g0089 a0003c0003t0022g0189 a0003c0003t0022g0192 a0003c0003t0031g0150 a0003c0003t0033g0013 a0003c0003t0034g0027 a0003c0003t0046g0125 a0003c0003t0054g0180 a0003c0003t0059g0188 a0003c0003t0065g0102 a0003c0003t0067g0134 a0003c0003t0070g0183 a0003c0003t0071g0179 a0003c0003t0075g0099 a0003c0003t0076g0222 a0003c0011t0027g0293 a0003c0011t0039g0261 a0003c0011t0039g0270 a0006c0012t0001g0015 a0007c0014t0001g0100 a0007c0014t0001g0108 a0008c0019t0001g0091 a0010c0015t0001g0051 a0013c0018t0001g0207	187	362	0.5166	3	c.117 others(12): Show c.1177_1179dupGCC	p.Ala others(6): Show p.Ala393dup	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	12/14	1340/10007	1179/1320	393/439		chr14	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCCG others(20): Show AGAGGCCGCTCGCCCAACGCCCACAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0047 a0048 a0050 a0051 a0052	a0001c0001 a0001c0006 a0001c0008 others(57): Show a0001c0001 a0001c0006 a0001c0008 a0001c0036 a0001c0043 a0001c0044 a0001c0053 a0001c0057 a0001c0059 a0001c0065 a0001c0068 a0002c0002 a0003c0003 a0003c0038 a0003c0039 a0004c0004 a0004c0023 a0004c0055 a0006c0007 a0007c0009 a0009c0014 a0009c0040 a0010c0012 a0011c0017 a0011c0033 a0012c0015 a0013c0016 a0013c0032 a0014c0027 a0016c0022 a0018c0025 a0019c0035 a0019c0054 a0020c0024 a0021c0020 a0022c0019 a0023c0018 a0024c0028 a0025c0029 a0026c0034 a0027c0070 a0028c0041 a0029c0042 a0034c0064 a0035c0063 a0036c0061 a0037c0062 a0038c0050 a0039c0051 a0040c0072 a0041c0056 a0042c0058 a0043c0060 a0044c0052 a0046c0045 a0047c0069 a0048c0071 a0050c0031 a0051c0030 a0052c0074	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(57): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0036t0001 a0001c0043t0001 a0001c0044t0001 a0001c0053t0001 a0001c0057t0001 a0001c0059t0001 a0001c0065t0001 a0001c0068t0001 a0002c0002t0001 a0003c0003t0001 a0003c0038t0001 a0003c0039t0001 a0004c0004t0001 a0004c0023t0001 a0004c0055t0001 a0006c0007t0001 a0007c0009t0001 a0009c0014t0001 a0009c0040t0001 a0010c0012t0001 a0011c0017t0001 a0011c0033t0001 a0012c0015t0001 a0013c0016t0001 a0013c0032t0001 a0014c0027t0001 a0016c0022t0001 a0018c0025t0001 a0019c0035t0001 a0019c0054t0001 a0020c0024t0001 a0021c0020t0001 a0022c0019t0001 a0023c0018t0001 a0024c0028t0001 a0025c0029t0001 a0026c0034t0001 a0027c0070t0001 a0028c0041t0001 a0029c0042t0001 a0034c0064t0001 a0035c0063t0001 a0036c0061t0001 a0037c0062t0001 a0038c0050t0001 a0039c0051t0001 a0040c0072t0001 a0041c0056t0001 a0042c0058t0001 a0043c0060t0001 a0044c0052t0001 a0046c0045t0001 a0047c0069t0001 a0048c0071t0001 a0050c0031t0001 a0051c0030t0001 a0052c0074t0001	a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0008t0001g0000 others(57): Show a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0008t0001g0000 a0001c0036t0001g0000 a0001c0043t0001g0000 a0001c0044t0001g0000 a0001c0053t0001g0000 a0001c0057t0001g0000 a0001c0059t0001g0000 a0001c0065t0001g0000 a0001c0068t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0003c0038t0001g0000 a0003c0039t0001g0000 a0004c0004t0001g0000 a0004c0023t0001g0000 a0004c0055t0001g0000 a0006c0007t0001g0000 a0007c0009t0001g0000 a0009c0014t0001g0000 a0009c0040t0001g0000 a0010c0012t0001g0000 a0011c0017t0001g0000 a0011c0033t0001g0000 a0012c0015t0001g0000 a0013c0016t0001g0000 a0013c0032t0001g0000 a0014c0027t0001g0000 a0016c0022t0001g0000 a0018c0025t0001g0000 a0019c0035t0001g0000 a0019c0054t0001g0000 a0020c0024t0001g0000 a0021c0020t0001g0000 a0022c0019t0001g0000 a0023c0018t0001g0000 a0024c0028t0001g0000 a0025c0029t0001g0000 a0026c0034t0001g0000 a0027c0070t0001g0000 a0028c0041t0001g0000 a0029c0042t0001g0000 a0034c0064t0001g0000 a0035c0063t0001g0000 a0036c0061t0001g0000 a0037c0062t0001g0000 a0038c0050t0001g0000 a0039c0051t0001g0000 a0040c0072t0001g0000 a0041c0056t0001g0000 a0042c0058t0001g0000 a0043c0060t0001g0000 a0044c0052t0001g0000 a0046c0045t0001g0000 a0047c0069t0001g0000 a0048c0071t0001g0000 a0050c0031t0001g0000 a0051c0030t0001g0000 a0052c0074t0001g0000	279	314	0.8885	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067	INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCCG others(20): Show AGAGGCCGCTCGCCCAACGCCCACAGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0001 a0001c0073t0001	a0001c0073t0001g0000 a0001c0073t0001g0000	1	314	0.0032	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGTGGAGGCCGCTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067	INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCTG others(20): Show AGAGGCTGCTCGCCCAACGCCCACAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0000 a0015c0021t0001g0000	2	314	0.0064	27	c.118 others(36): Show c.1182_1183insTGCTCGCCCAACGCCCACAGCGGAGGC	p.Gly others(40): Show p.Gly394_Arg395insCysSerProAsnAlaHisSerGlyGly	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1215/3459	1183/3204	395/1067	INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190625	G G	GCTCGCCC others(20): Show GCTCGCCCAACGCCCACAGCGGAGGCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0001 a0032c0046t0001	a0032c0046t0001g0000 a0032c0046t0001g0000	1	314	0.0032	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGCGGAGGCCACTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyHisSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067	INFO_REALIGN_3_PRIME	chrX	TogoVar
RENBP_chrX_153930269_153949643	153935303	A A	AGGCGGGG others(17): Show AGGCGGGGGTGGGGGCGGGGGAGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18970.hp1 NA18970.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0142 a0012c0019t0001g0142	1	297	0.0034	24	c.124 others(33): Show c.1243_1266dupCCCTCCCCCGCCCCCACCCCCGCC	p.Ala others(37): Show p.Ala422_Cys423insProSerProAlaProThrProAla	RENBP	ENSG00000102032.13	transcript	ENST00000393700.8	protein_coding	11/11	1299/1334	1266/1284	422/427		chrX	TogoVar
REPIN1_chr7_150363822_150379039	150371401	G G	GGCAGGGC others(5): Show GGCAGGGCCCATC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18990.hp2 NA18990.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0002 a0013c0013t0002	a0013c0013t0002g0002 a0013c0013t0002g0002	1	400	0.0025	12	c.334 others(19): Show c.334_345dupAGGGCCCATCGC	p.Arg others(13): Show p.Arg112_Arg115dup	REPIN1	ENSG00000214022.12	transcript	ENST00000489432.7	protein_coding	3/3	507/3130	346/1875	116/624	INFO_REALIGN_3_PRIME	chr7	TogoVar
RERE_chr1_8347404_8822640	8359808	G G	GCTCCTT GCTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02647.hp1 HG02970.hp1 HG03041.hp2 others(1): Show HG02647.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0071 others(1): Show a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0071 a0003c0008t0001g0072	4	204	0.0196	6	c.356 others(15): Show c.3568_3573dupAAGGAG	p.Glu others(21): Show p.Glu1191_Arg1192insLysGlu	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	19/23	4198/8009	3573/4701	1191/1566		chr1	TogoVar
REXO1_chr19_1810248_1853483	1827021	T T	TGGA TGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00423.hp2 HG00558.hp2 others(40): Show HG00140.hp2 HG00423.hp2 HG00558.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18960.hp1 NA18974.hp1 NA18983.hp1 NA18983.hp2 NA20300.hp1 NA21309.hp1	a0005 a0008 a0011 others(7): Show a0005 a0008 a0011 a0014 a0026 a0030 a0031 a0032 a0039 a0040	a0005c0005 a0005c0023 a0005c0049 others(12): Show a0005c0005 a0005c0023 a0005c0049 a0008c0008 a0008c0036 a0011c0018 a0011c0019 a0014c0020 a0014c0030 a0026c0035 a0030c0044 a0031c0045 a0032c0043 a0039c0059 a0040c0058	a0005c0005t0001 a0005c0005t0005 a0005c0023t0001 others(13): Show a0005c0005t0001 a0005c0005t0005 a0005c0023t0001 a0005c0049t0001 a0008c0008t0001 a0008c0036t0001 a0011c0018t0001 a0011c0019t0001 a0014c0020t0001 a0014c0030t0001 a0026c0035t0001 a0030c0044t0001 a0031c0045t0001 a0032c0043t0001 a0039c0059t0001 a0040c0058t0001	a0005c0005t0001g0005 a0005c0005t0001g0094 a0005c0005t0001g0095 others(35): Show a0005c0005t0001g0005 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0001g0113 a0005c0005t0001g0122 a0005c0005t0001g0138 a0005c0005t0001g0140 a0005c0005t0001g0255 a0005c0005t0005g0104 a0005c0023t0001g0030 a0005c0023t0001g0031 a0005c0049t0001g0121 a0008c0008t0001g0070 a0008c0008t0001g0078 a0008c0008t0001g0086 a0008c0008t0001g0087 a0008c0008t0001g0106 a0008c0008t0001g0117 a0008c0008t0001g0118 a0008c0008t0001g0120 a0008c0008t0001g0252 a0008c0008t0001g0253 a0008c0036t0001g0062 a0011c0018t0001g0063 a0011c0018t0001g0067 a0011c0018t0001g0114 a0011c0019t0001g0151 a0011c0019t0001g0152 a0011c0019t0001g0156 a0014c0020t0001g0008 a0014c0030t0001g0150 a0026c0035t0001g0125 a0030c0044t0001g0148 a0031c0045t0001g0039 a0032c0043t0001g0119 a0039c0059t0001g0316 a0040c0058t0001g0320	43	380	0.1132	3	c.176 others(12): Show c.1765_1767dupTCC	p.Ser others(6): Show p.Ser589dup	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding	2/16	1892/4609	1767/3666	589/1221		chr19	TogoVar
REXO1_chr19_1810248_1853483	1827021	T T	TGGAGGA TGGAGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp2 HG01258.hp2 HG02486.hp2 others(3): Show HG01257.hp2 HG01258.hp2 HG02486.hp2 HG03195.hp2 NA19090.hp2 NA19240.hp1	a0016 a0021 a0016 a0021	a0016c0015 a0021c0024 a0016c0015 a0021c0024	a0016c0015t0001 a0016c0015t0005 a0021c0024t0001 a0016c0015t0001 a0016c0015t0005 a0021c0024t0001	a0016c0015t0001g0016 a0016c0015t0001g0098 a0016c0015t0005g0097 others(2): Show a0016c0015t0001g0016 a0016c0015t0001g0098 a0016c0015t0005g0097 a0021c0024t0001g0109 a0021c0024t0001g0123	6	380	0.0158	6	c.176 others(15): Show c.1762_1767dupTCCTCC	p.Ser others(13): Show p.Ser588_Ser589dup	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding	2/16	1892/4609	1767/3666	589/1221		chr19	TogoVar
REXO1_chr19_1810248_1853483	1827021	T T	TGGAGGAG others(5): Show TGGAGGAGGAGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19080.hp2 NA19080.hp2	a0038 a0038	a0038c0060 a0038c0060	a0038c0060t0013 a0038c0060t0013	a0038c0060t0013g0318 a0038c0060t0013g0318	1	380	0.0026	12	c.175 others(21): Show c.1756_1767dupTCCTCCTCCTCC	p.Ser others(13): Show p.Ser586_Ser589dup	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding	2/16	1892/4609	1767/3666	589/1221		chr19	TogoVar
REXO1_chr19_1810248_1853483	1827021	T T	TGGAGGAG others(5): Show TGGAGGAGGTGGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp1 HG02622.hp1	a0033 a0033	a0033c0046 a0033c0046	a0033c0046t0001 a0033c0046t0001	a0033c0046t0001g0147 a0033c0046t0001g0147	1	380	0.0026	12	c.176 others(21): Show c.1767_1768insTCCACCTCCTCC	p.Ser others(25): Show p.Ser589_Thr590insSerThrSerSer	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding	2/16	1892/4609	1767/3666	589/1221		chr19	TogoVar
RIMBP3B_chr22_21378751_21394478	21387051	C C	CTGCAGG CTGCAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG01884.hp2 HG02145.hp2 others(4): Show HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02615.hp1 HG02630.hp1 HG03471.hp1 NA19030.hp1	a0003 a0016 a0022 others(3): Show a0003 a0016 a0022 a0023 a0051 a0065	a0003c0052 a0003c0053 a0016c0013 others(4): Show a0003c0052 a0003c0053 a0016c0013 a0022c0064 a0023c0065 a0051c0029 a0065c0024	a0003c0052t0005 a0003c0053t0005 a0016c0013t0001 others(4): Show a0003c0052t0005 a0003c0053t0005 a0016c0013t0001 a0022c0064t0001 a0023c0065t0001 a0051c0029t0002 a0065c0024t0002	a0003c0052t0005g0000 a0003c0053t0005g0000 a0016c0013t0001g0000 others(4): Show a0003c0052t0005g0000 a0003c0053t0005g0000 a0016c0013t0001g0000 a0022c0064t0001g0000 a0023c0065t0001g0000 a0051c0029t0002g0000 a0065c0024t0002g0000	7	118	0.0593	6	c.319 others(15): Show c.3196_3201dupCAGGTG	p.Gln others(15): Show p.Gln1066_Val1067dup	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding	1/1	3310/5728	3202/4920	1068/1639	INFO_REALIGN_3_PRIME	chr22	TogoVar
RIMBP3C_chr22_21540666_21556461	21547775	A A	ACACCTG ACACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02486.hp2 HG02622.hp2 others(7): Show HG02145.hp1 HG02486.hp2 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG03453.hp2 NA18942.hp1 NA18994.hp2 NA19090.hp1 NA21309.hp1	a0015 a0024 a0029 others(4): Show a0015 a0024 a0029 a0047 a0057 a0075 a0079	a0015c0016 a0024c0019 a0029c0035 others(4): Show a0015c0016 a0024c0019 a0029c0035 a0047c0071 a0057c0038 a0075c0041 a0079c0045	a0015c0016t0002 a0024c0019t0001 a0029c0035t0001 others(4): Show a0015c0016t0002 a0024c0019t0001 a0029c0035t0001 a0047c0071t0001 a0057c0038t0004 a0075c0041t0001 a0079c0045t0001	a0015c0016t0002g0000 a0024c0019t0001g0000 a0029c0035t0001g0000 others(4): Show a0015c0016t0002g0000 a0024c0019t0001g0000 a0029c0035t0001g0000 a0047c0071t0001g0000 a0057c0038t0004g0000 a0075c0041t0001g0000 a0079c0045t0001g0000	10	200	0.0500	6	c.319 others(15): Show c.3196_3201dupCAGGTG	p.Val others(21): Show p.Val1067_Tyr1068insGlnVal	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding	1/1	3686/5796	3201/4920	1067/1639		chr22	TogoVar
RIMBP3_chr22_18600815_18616919	18608233	A A	ACACCTG ACACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0007 a0013 a0007 a0013	a0007c0017 a0013c0019 a0007c0017 a0013c0019	a0007c0017t0002 a0013c0019t0002 a0007c0017t0002 a0013c0019t0002	a0007c0017t0002g0000 a0013c0019t0002g0000 a0007c0017t0002g0000 a0013c0019t0002g0000	2	30	0.0667	6	c.319 others(15): Show c.3196_3201dupCAGGTG	p.Val others(21): Show p.Val1067_Tyr1068insGlnVal	RIMBP3	ENSG00000275793.1	transcript	ENST00000619918.1	protein_coding	1/1	3686/6105	3201/4920	1067/1639		chr22	TogoVar
RNF167_chr17_4935268_4950222	4944992	C C	CAATTGAA others(98): Show CAATTGAAACAGAGTAATTAGATCTGGTAGACAATCTAATGCACATGCAT TAATGAAATGTGATAATTGATTGGCAAACATGTATTATGAGGTGGAAGGT TTTTTT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0003 a0004c0006t0001g0003	1	440	0.0023	105	c.102 others(114): Show c.1029_1030insAATTGAAACAGAGTAATTAGATCTGGTAGACAATCT AATGCACATGCATTAATGAAATGTGATAATTGATTGGCAAACATGTATTA TGAGGTGGAAGGTTTTTTT	p.Pro others(118): Show p.Pro343_Ser344insAsnTerAsnArgValIleArgSerGlyArgGl nSerAsnAlaHisAlaLeuMetLysCysAspAsnTerLeuAlaAsnMetT yrTyrGluValGluGlyPhePhe	RNF167	ENSG00000108523.16	transcript	ENST00000262482.11	protein_coding	10/10	1546/1775	1030/1053	344/350		chr17	TogoVar
RNF215_chr22_30373821_30392411	30387217	A A	ACAGCGGC others(8): Show ACAGCGGCAGCAGGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0047 a0004c0008t0005g0047	1	432	0.0023	15	c.82_ others(20): Show c.82_96dupCCCCTGCTGCCGCTG	p.Leu others(26): Show p.Leu32_Trp33insProLeuLeuProLeu	RNF215	ENSG00000099999.15	transcript	ENST00000382363.8	protein_coding	1/9	194/2011	96/1134	32/377		chr22	TogoVar
RNF44_chr5_176521712_176542402	176530853	G G	GAGGGTGC others(14): Show GAGGGTGCTGGGTCTGCAGAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19084.hp1 NA19084.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0025 a0006c0013t0025	a0006c0013t0025g0078 a0006c0013t0025g0078	1	444	0.0023	21	c.613 others(28): Show c.613_633dupTCTCTGCAGACCCAGCACCCT	p.Pro others(34): Show p.Pro211_Arg212insSerLeuGlnThrGlnHisPro	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	5/11	1140/4122	633/1299	211/432		chr5	TogoVar
RP1L1_chr8_10601349_10660143	10607512	T T	TACCTTCT others(41): Show TACCTTCTGACTCTGGCTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18941.hp2 NA18960.hp2 NA18962.hp1 NA18941.hp2 NA18960.hp2 NA18962.hp1	a0008 a0125 a0008 a0125	a0008c0140 a0008c0141 a0125c0085 a0008c0140 a0008c0141 a0125c0085	a0008c0140t0002 a0008c0141t0002 a0125c0085t0002 a0008c0140t0002 a0008c0141t0002 a0125c0085t0002	a0008c0140t0002g0044 a0008c0141t0002g0184 a0125c0085t0002g0043 a0008c0140t0002g0044 a0008c0141t0002g0184 a0125c0085t0002g0043	3	414	0.0073	48	c.653 others(57): Show c.6538_6585dupGTAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAGCCA GAGTCAGAAGGT	p.Gly others(63): Show p.Gly2195_Ile2196insValGluAlaProGluAlaGluGlyGluAla GlnProGluSerGluGly	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	6850/8014	6585/7203	2195/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10608384	C C	CCTTCTGA others(41): Show CCTTCTGACTCTGGCTGGACCTCCCATTCTGCCTCTGGGGTCTCTACAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG00621.hp1	a0136 a0136	a0136c0094 a0136c0094	a0136c0094t0004 a0136c0094t0004	a0136c0094t0004g0104 a0136c0094t0004g0104	1	414	0.0024	48	c.566 others(57): Show c.5666_5713dupATGTAGAGACCCCAGAGGCAGAATGGGAGGTCCAGC CAGAGTCAGAAG	p.Asp others(15): Show p.Asp1889_Glu1904dup	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	5978/8014	5713/7203	1905/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10609969	C C	CTTCCTCT others(197): Show CTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTGCTCCTGTTTCT TCAATTTCCTCTAACTGCGCCTCTTCTTCTTGCTGTCCTTCTCCTTCCGT TTCTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTG TTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03195.hp1 HG03195.hp1	a0074 a0074	a0074c0173 a0074c0173	a0074c0173t0005 a0074c0173t0005	a0074c0173t0005g0373 a0074c0173t0005g0373	1	414	0.0024	204	c.412 others(213): Show c.4128_4129insACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCA GTTAGAGGGGACTAAAGAAACGGAAGGAGAAGGACAGCAAGAAGAAGAGG CGCAGTTAGAGGAAATTGAAGAAACAGGAGCAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGAA	p.Glu others(219): Show p.Glu1376_Val1377insThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGluGlyThrLysGluThrGluGlyGluGlyGlnGlnGluG luGluAlaGlnLeuGluGluIleGluGluThrGlyAlaGluGlyLeuGln GluGluGlyValGlnLeuGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4393/8014	4128/7203	1376/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(140): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTC TTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0127 a0127	a0127c0087 a0127c0087	a0127c0087t0002 a0127c0087t0002	a0127c0087t0002g0021 a0127c0087t0002g0021	1	414	0.0024	147	c.402 others(156): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT AGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAG AGGGGACTAAA	p.Lys others(162): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGluGluGlyVa lGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValG lnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(41): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG02809.hp2 HG03098.hp1 others(1): Show HG01891.hp1 HG02809.hp2 HG03098.hp1 HG03471.hp2	a0016 a0128 a0016 a0128	a0016c0054 a0016c0150 a0128c0088 a0016c0054 a0016c0150 a0128c0088	a0016c0054t0005 a0016c0150t0005 a0128c0088t0005 a0016c0054t0005 a0016c0150t0005 a0128c0088t0005	a0016c0054t0005g0369 a0016c0054t0005g0370 a0016c0150t0005g0404 others(1): Show a0016c0054t0005g0369 a0016c0054t0005g0370 a0016c0150t0005g0404 a0128c0088t0005g0372	4	414	0.0097	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(89): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp2 HG01928.hp1 HG01928.hp2 others(23): Show HG00609.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 NA18941.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18990.hp2 NA19003.hp1 NA19063.hp2 NA19064.hp1 NA19079.hp2	a0004 a0008 a0013 others(3): Show a0004 a0008 a0013 a0053 a0125 a0172	a0004c0005 a0004c0013 a0008c0140 others(5): Show a0004c0005 a0004c0013 a0008c0140 a0008c0141 a0013c0031 a0053c0212 a0125c0085 a0172c0061	a0004c0005t0002 a0004c0005t0005 a0004c0013t0002 others(7): Show a0004c0005t0002 a0004c0005t0005 a0004c0013t0002 a0004c0013t0005 a0008c0140t0002 a0008c0141t0002 a0013c0031t0002 a0053c0212t0002 a0125c0085t0002 a0172c0061t0002	a0004c0005t0002g0048 a0004c0005t0002g0055 a0004c0005t0002g0061 others(23): Show a0004c0005t0002g0048 a0004c0005t0002g0055 a0004c0005t0002g0061 a0004c0005t0002g0065 a0004c0005t0002g0092 a0004c0005t0002g0105 a0004c0005t0002g0149 a0004c0005t0002g0169 a0004c0005t0002g0192 a0004c0005t0002g0203 a0004c0005t0002g0215 a0004c0005t0002g0224 a0004c0005t0005g0291 a0004c0013t0002g0047 a0004c0013t0005g0266 a0004c0013t0005g0271 a0004c0013t0005g0272 a0004c0013t0005g0295 a0008c0140t0002g0044 a0008c0141t0002g0184 a0013c0031t0002g0008 a0013c0031t0002g0167 a0013c0031t0002g0200 a0053c0212t0002g0097 a0125c0085t0002g0043 a0172c0061t0002g0120	26	414	0.0628	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGGGACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(137): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG01099.hp2 HG01192.hp1 others(8): Show HG00639.hp1 HG01099.hp2 HG01192.hp1 HG01952.hp2 HG02074.hp1 HG02280.hp2 HG02602.hp2 NA18950.hp1 NA18962.hp2 NA19002.hp1 NA19060.hp1	a0008 a0014 a0031 others(2): Show a0008 a0014 a0031 a0155 a0160	a0008c0142 a0014c0023 a0014c0039 others(3): Show a0008c0142 a0014c0023 a0014c0039 a0031c0029 a0155c0119 a0160c0126	a0008c0142t0002 a0014c0023t0002 a0014c0023t0005 others(6): Show a0008c0142t0002 a0014c0023t0002 a0014c0023t0005 a0014c0039t0002 a0014c0039t0005 a0031c0029t0002 a0031c0029t0005 a0155c0119t0025 a0160c0126t0002	a0008c0142t0002g0098 a0014c0023t0002g0234 a0014c0023t0002g0240 others(8): Show a0008c0142t0002g0098 a0014c0023t0002g0234 a0014c0023t0002g0240 a0014c0023t0005g0333 a0014c0039t0002g0231 a0014c0039t0005g0325 a0031c0029t0002g0110 a0031c0029t0002g0236 a0031c0029t0005g0285 a0155c0119t0025g0208 a0160c0126t0002g0152	11	414	0.0266	144	c.402 others(153): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG GGACTAAA	p.Lys others(159): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(185): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(41): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG03239.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 homoSapiens_chm13v2.hp1	a0003 a0008 a0012 others(11): Show a0003 a0008 a0012 a0013 a0027 a0032 a0048 a0052 a0113 a0129 a0140 a0158 a0159 a0167	a0003c0004 a0003c0020 a0003c0050 others(16): Show a0003c0004 a0003c0020 a0003c0050 a0008c0139 a0012c0011 a0012c0136 a0013c0057 a0027c0024 a0032c0048 a0032c0137 a0048c0118 a0048c0135 a0052c0213 a0113c0096 a0129c0089 a0140c0075 a0158c0123 a0159c0124 a0167c0104	a0003c0004t0002 a0003c0004t0014 a0003c0020t0002 others(21): Show a0003c0004t0002 a0003c0004t0014 a0003c0020t0002 a0003c0020t0005 a0003c0050t0002 a0008c0139t0002 a0012c0011t0002 a0012c0011t0005 a0012c0136t0005 a0013c0057t0002 a0027c0024t0002 a0027c0024t0005 a0032c0048t0001 a0032c0048t0020 a0032c0137t0001 a0048c0118t0002 a0048c0135t0002 a0052c0213t0002 a0113c0096t0002 a0129c0089t0002 a0140c0075t0002 a0158c0123t0002 a0159c0124t0022 a0167c0104t0002	a0003c0004t0002g0016 a0003c0004t0002g0060 a0003c0004t0002g0067 others(41): Show a0003c0004t0002g0016 a0003c0004t0002g0060 a0003c0004t0002g0067 a0003c0004t0002g0079 a0003c0004t0002g0115 a0003c0004t0002g0130 a0003c0004t0002g0148 a0003c0004t0002g0158 a0003c0004t0002g0178 a0003c0004t0002g0191 a0003c0004t0002g0199 a0003c0004t0002g0225 a0003c0004t0014g0174 a0003c0004t0014g0181 a0003c0020t0002g0166 a0003c0020t0005g0301 a0003c0020t0005g0322 a0003c0050t0002g0165 a0003c0050t0002g0204 a0008c0139t0002g0116 a0012c0011t0002g0121 a0012c0011t0002g0122 a0012c0011t0002g0153 a0012c0011t0002g0154 a0012c0011t0002g0233 a0012c0011t0005g0273 a0012c0136t0005g0290 a0013c0057t0002g0132 a0013c0057t0002g0201 a0027c0024t0002g0209 a0027c0024t0005g0280 a0027c0024t0005g0281 a0032c0048t0001g0103 a0032c0048t0020g0185 a0032c0137t0001g0189 a0048c0118t0002g0096 a0048c0135t0002g0129 a0052c0213t0002g0139 a0113c0096t0002g0053 a0129c0089t0002g0046 a0140c0075t0002g0220 a0158c0123t0002g0082 a0159c0124t0022g0206 a0167c0104t0002g0117	44	414	0.1063	192	c.402 others(201): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGG ACTAAA	p.Lys others(207): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(233): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTT TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00423.hp2 HG01433.hp1 others(4): Show HG00140.hp1 HG00423.hp2 HG01433.hp1 NA18944.hp2 NA18963.hp2 NA19004.hp1 NA19009.hp1	a0020 a0123 a0124 others(1): Show a0020 a0123 a0124 a0171	a0020c0028 a0020c0134 a0123c0083 others(2): Show a0020c0028 a0020c0134 a0123c0083 a0124c0084 a0171c0062	a0020c0028t0002 a0020c0134t0002 a0123c0083t0001 others(2): Show a0020c0028t0002 a0020c0134t0002 a0123c0083t0001 a0124c0084t0002 a0171c0062t0002	a0020c0028t0002g0088 a0020c0028t0002g0090 a0020c0028t0002g0212 others(4): Show a0020c0028t0002g0088 a0020c0028t0002g0090 a0020c0028t0002g0212 a0020c0134t0002g0119 a0123c0083t0001g0036 a0124c0084t0002g0040 a0171c0062t0002g0085	7	414	0.0169	240	c.402 others(249): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAA ACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGAC TAAA	p.Lys others(255): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGl uGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(377): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTT TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCT AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19002.hp2 NA19063.hp1 NA19002.hp2 NA19063.hp1	a0121 a0122 a0121 a0122	a0121c0081 a0122c0082 a0121c0081 a0122c0082	a0121c0081t0002 a0122c0082t0002 a0121c0081t0002 a0122c0082t0002	a0121c0081t0002g0069 a0122c0082t0002g0250 a0121c0081t0002g0069 a0122c0082t0002g0250	2	414	0.0048	384	c.402 others(393): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAA ACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAAC TAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTA AAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAA ACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAA	p.Lys others(399): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGl uGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluG luThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluGlu ThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyTh rLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar

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Search Results (Total: 1973 hits)