Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEXMIF_chrX_74727856_74930452	74796220	T T	TACATATA others(16): Show TACATATATAATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	224	0.0045	23	c.-47 others(42): Show c.-47-50524_-47-50523insGTATATATATATATTATATATGT	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXMIF_chrX_74727856_74930452	74796243	T T	TACATATA others(16): Show TACATATATAATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03669.hp1 HG03704.hp2 HG01433.hp1 HG03669.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0178	3	224	0.0134	23	c.-47 others(42): Show c.-47-50547_-47-50546insGTATATATATATATTATATATGT	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NFASC_chr1_204865862_205027822	204877003	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	264	0.0038	23	c.-91 others(40): Show c.-91+5934_-91+5956dupATATATATATATATATATATATA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03927.hp2 HG01884.hp1 HG03041.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0197 a0001c0001t0019g0222 a0001c0001t0019g0234 a0001c0001t0005g0197 a0001c0001t0019g0222 a0001c0001t0019g0234	3	380	0.0079	23	c.177 others(42): Show c.1775-2736_1775-2714dupAAAAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFE2_chr12_54287111_54306015	54297356	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	346	0.0029	23	c.-56 others(40): Show c.-56-2075_-56-2053dupTTTTTTTTTTTTTTTTTTTTTTT	NFE2	ENSG00000123405.14	transcript	ENST00000435572.7	protein_coding	1/2			chr12	TogoVar
NFIB_chr9_14076848_14319141	14231135	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0137 a0001c0001t0080g0137	1	304	0.0033	23	c.563 others(42): Show c.563-51356_563-51355insATATATATATATATATATATATA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8648761	G G	GAGAATGG others(16): Show GAGAATGGCTTGAACCTGGGAGGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0163 a0001c0001t0030g0163	1	366	0.0027	23	c.-16 others(44): Show c.-164+13016_-164+13038dupAGAATGGCTTGAACCTGGGAGGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8661100	C C	CTTCCCCC others(16): Show CTTCCCCCTCCCTCCCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02486.hp1 HG02027.hp1 HG02027.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0160 a0001c0001t0001 a0001c0001t0045 a0001c0001t0160	a0001c0001t0001g0145 a0001c0001t0045g0146 a0001c0001t0160g0153 a0001c0001t0001g0145 a0001c0001t0045g0146 a0001c0001t0160g0153	3	366	0.0082	23	c.-16 others(44): Show c.-163-13450_-163-13449insTCCCCCTCCCTCCCTTCCTCCTT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102609158	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	328	0.0031	23	c.222 others(42): Show c.2228-1405_2228-1404insAAAAAAAAAAAAAAAAAAAAAAA	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFKBIA_chr14_35396513_35409749	35402235	A A	AGTAAGCT others(16): Show AGTAAGCTATTAAAAAAAGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	462	0.0022	23	c.906 others(38): Show c.906+158_906+159insCCCCCCTTTTTTTAATAGCTTAC	NFKBIA	ENSG00000100906.12	transcript	ENST00000216797.10	protein_coding	5/5			chr14	TogoVar
NFKBIZ_chr3_101844514_101866022	101857185	T T	TACTTTTA others(16): Show TACTTTTAGAAAGCTTTAATAACC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(311): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0003c0006 a0004c0011 a0005c0007 a0006c0008 a0007c0009 a0008c0010 a0009c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(39): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0030 a0001c0003t0002 a0001c0003t0006 a0001c0004t0009 a0001c0004t0016 a0001c0014t0007 a0003c0006t0002 a0004c0011t0002 a0005c0007t0003 a0006c0008t0003 a0007c0009t0009 a0008c0010t0003 a0009c0012t0004	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0010 others(72): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0005g0001 a0001c0001t0005g0016 a0001c0001t0005g0033 a0001c0001t0006g0001 a0001c0001t0006g0008 a0001c0001t0008g0001 a0001c0001t0008g0017 a0001c0001t0010g0050 a0001c0001t0015g0001 a0001c0001t0020g0037 a0001c0001t0021g0042 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0027g0054 a0001c0001t0028g0044 a0001c0001t0029g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0004g0012 a0001c0002t0004g0023 a0001c0002t0007g0003 a0001c0002t0007g0004 a0001c0002t0007g0022 a0001c0002t0007g0035 a0001c0002t0008g0012 a0001c0002t0011g0003 a0001c0002t0012g0013 a0001c0002t0013g0013 a0001c0002t0014g0024 a0001c0002t0017g0003 a0001c0002t0018g0003 a0001c0002t0019g0003 a0001c0002t0030g0003 a0001c0003t0002g0006 a0001c0003t0006g0006 a0001c0003t0006g0014 a0001c0003t0006g0055 a0001c0004t0009g0005 a0001c0004t0009g0021 a0001c0004t0016g0005 a0001c0014t0007g0003 a0003c0006t0002g0001 a0004c0011t0002g0001 a0005c0007t0003g0003 a0006c0008t0003g0003 a0007c0009t0009g0036 a0008c0010t0003g0003 a0009c0012t0004g0001	314	410	0.7659	23	c.193 others(36): Show c.1935+4_1935+5insTTTTAGAAAGCTTTAATAACCAC	NFKBIZ	ENSG00000144802.11	transcript	ENST00000326172.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18953.hp2 NA18977.hp1 others(2): Show HG03225.hp1 NA18953.hp2 NA18977.hp1 NA19011.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0276 others(2): Show a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0001g0285	5	368	0.0136	23	c.545 others(40): Show c.545+1384_545+1406dupAAAAAAAAAAAAAAAAAAAAAAA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7			chr2	TogoVar
NFU1_chr2_69391126_69442435	69424198	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	368	0.0027	23	c.167 others(38): Show c.167-482_167-481insATATATATATATATATATATTTT	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	2/7			chr2	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(16): Show TCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG03704.hp1 others(2): Show HG01106.hp1 HG01123.hp2 HG03704.hp1 HG03927.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0009g0137	5	366	0.0137	23	c.90- others(36): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(16): Show GTTTGTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	418	0.0024	23	c.-13 others(40): Show c.-137+936_-137+937insAAAAAAAAAAAAAAACAAACAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25783513	C C	CGGGGTCC others(16): Show CGGGGTCCTCGGCCGGCAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG02970.hp2 HG00639.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0099 a0001c0001t0001g0231 a0001c0001t0001g0233	3	264	0.0114	23	c.-14 others(32): Show c.-146_-124dupCGCCCCTGCCGGCCGAGGACCCC	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		71		chr3	TogoVar
NHSL2_chrX_71905845_72158286	72093779	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0063 a0003c0004t0063	a0003c0004t0063g0063 a0003c0004t0063g0063	1	187	0.0054	23	c.281 others(42): Show c.281-38298_281-38297insCTTTCTTTCTTTCTTTCTTTCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17521366	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02717.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0164 a0001c0003t0002g0101 a0001c0001t0002g0164 a0001c0003t0002g0101	2	164	0.0122	23	c.565 others(44): Show c.565+145057_565+145058insTTTTTTTTTTTTTTTTTTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127571216	C C	CCCCTGGC others(16): Show CCCCTGGCCCAGGGAAGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02897.hp1 others(3): Show HG02630.hp1 HG02809.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010	a0001c0001t0005g0032 a0001c0001t0005g0035 a0001c0001t0009g0031 others(3): Show a0001c0001t0005g0032 a0001c0001t0005g0035 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0010g0104	6	332	0.0181	23	c.-23 others(34): Show c.-2343_-2342insAGGAACCCTTCCCTGGGCCAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding		2144		chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127571216	C C	CCCCTGGC others(16): Show CCCCTGGCCCAGGGACGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02630.hp2 others(5): Show HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG03130.hp1 HG06807.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015	a0001c0001t0001g0242 a0001c0001t0008g0313 a0001c0001t0008g0314 others(5): Show a0001c0001t0001g0242 a0001c0001t0008g0313 a0001c0001t0008g0314 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0015g0019 a0001c0001t0015g0023	8	332	0.0241	23	c.-23 others(34): Show c.-2365_-2343dupAGGAACCCGTCCCTGGGCCAGGG	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding		2144		chr9	TogoVar
NINJ2_chr12_559296_668445	584417	T T	TCCCAGCA others(16): Show TCCCAGCACTATGGGAGGCTGAGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	404	0.0025	23	c.34- others(40): Show c.34-18262_34-18240dupGCTCAGCCTCCCATAGTGCTGGG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	585014	G G	GAGGCTGA others(16): Show GAGGCTGAGGCAGGAGAATCACTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	404	0.0025	23	c.34- others(40): Show c.34-18859_34-18837dupAAGTGATTCTCCTGCCTCAGCCT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18986.hp2 HG01981.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0346 a0001c0001t0001g0339 a0001c0001t0001g0346	2	404	0.0050	23	c.33+ others(40): Show c.33+33431_33+33432insATATTTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02572.hp1 HG02965.hp2 others(1): Show HG00140.hp2 HG02572.hp1 HG02965.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0347 a0001c0001t0002g0205 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0347 a0001c0001t0002g0205 a0001c0001t0002g0388	4	404	0.0099	23	c.33+ others(40): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19007.hp2 NA19078.hp2 others(2): Show HG00408.hp1 NA19007.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0253 a0001c0001t0001g0361	5	404	0.0124	23	c.33+ others(40): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02040.hp1 HG02300.hp1 others(2): Show HG00621.hp2 HG02040.hp1 HG02300.hp1 NA18951.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0001g0340 a0001c0001t0001g0359 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0340 a0001c0001t0001g0359 a0001c0001t0002g0072 a0001c0001t0002g0095	5	404	0.0124	23	c.33+ others(40): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	404	0.0025	23	c.33+ others(40): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18945.hp1 NA18987.hp2 HG02109.hp1 NA18945.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0217 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0217	3	404	0.0074	23	c.33+ others(40): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPA1_chr15_22781644_22834789	22808679	C C	CTTAATAT others(16): Show CTTAATATTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02135.hp2 others(10): Show HG00408.hp2 HG00438.hp2 HG02135.hp2 HG02155.hp2 NA18943.hp2 NA18946.hp2 NA18959.hp2 NA18969.hp1 NA18979.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0002t0001 a0002c0003t0003 others(1): Show a0001c0001t0003 a0001c0002t0001 a0002c0003t0003 a0002c0004t0001	a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0174 others(10): Show a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0174 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0175 a0002c0003t0003g0180 a0002c0004t0001g0214 a0002c0004t0001g0217 a0002c0004t0001g0237 a0002c0004t0001g0260	13	400	0.0325	23	c.179 others(40): Show c.179-2068_179-2067insAATATTCTTTTTTTTTTTTTTTT	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPA2_chr15_22833666_22873384	22835507	G G	GCACTGTG others(16): Show GCACTGTGCAGTGTCGGGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0072 a0001c0001t0017g0072	1	432	0.0023	23	c.-37 others(34): Show c.-3766_-3765insCACTGTGCAGTGTCGGGGGAGGT	NIPA2	ENSG00000140157.16	transcript	ENST00000337451.8	protein_coding		3158		chr15	TogoVar
NIPA2_chr15_22833666_22873384	22862049	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0226 a0001c0001t0012g0226	1	432	0.0023	23	c.448 others(40): Show c.448+1275_448+1276insTTTTTTTTTTTTTTTTTTTTTTT	NIPA2	ENSG00000140157.16	transcript	ENST00000337451.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPAL2_chr8_98184826_98299235	98209445	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0286 a0001c0001t0023g0286	1	332	0.0030	23	c.655 others(40): Show c.655+2937_655+2959dupTTTTTTTTTTTTTTTTTTTTTTT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	6/10			chr8	TogoVar
NIPSNAP3A_chr9_104742683_104765120	104747998	C C	CCCCGGAA others(16): Show CCCCGGAACCCCAAGACAGGGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(135): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02886.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0004c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0007g0073 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0002g0052 a0002c0002t0002g0061 a0002c0002t0004g0010 a0002c0002t0004g0060 a0002c0002t0004g0069 a0004c0003t0001g0002 a0004c0003t0001g0010 a0004c0003t0001g0071	138	446	0.3094	23	c.60+ others(36): Show c.60+155_60+177dupCCCAAGACAGGGGTACCCGGAAC	NIPSNAP3A	ENSG00000136783.10	transcript	ENST00000374767.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
NKAIN1_chr1_31174745_31244887	31206237	A A	AAAATAAA others(16): Show AAAATAAATAAATAAATAAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(26): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG02080.hp1 HG02129.hp1 HG02280.hp2 HG02523.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 NA18943.hp1 NA18957.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18984.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0311 a0001c0001t0003g0094 a0001c0001t0003g0111 others(26): Show a0001c0001t0001g0311 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0327 a0001c0001t0003g0333 a0001c0001t0003g0336 a0001c0001t0015g0294	29	338	0.0858	23	c.55- others(40): Show c.55-18051_55-18050insATTATTTATTTATTTATTTATTT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31206254	A A	AAATAATA others(16): Show AAATAATAAATAAATAAATAAATT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	338	0.0030	23	c.55- others(40): Show c.55-18068_55-18067insAATTTATTTATTTATTTATTATT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	124369880	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	66	0.0152	23	c.273 others(42): Show c.273+14551_273+14552insTTTTTTTTTTTTTTTTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124379144	A A	AGGGGAGG others(16): Show AGGGGAGGGAGGGAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02602.hp2 HG02615.hp1 others(2): Show HG01346.hp2 HG02602.hp2 HG02615.hp1 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0002g0043 a0001c0001t0008g0051	5	66	0.0758	23	c.273 others(42): Show c.273+23800_273+23801insGAGGGAGGGAGGGAGGGGAGGGG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62454301	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03239.hp2 HG02717.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0082 a0001c0002t0059 a0001c0001t0082 a0001c0002t0059	a0001c0001t0082g0078 a0001c0002t0059g0023 a0001c0001t0082g0078 a0001c0002t0059g0023	2	144	0.0139	23	c.55- others(42): Show c.55-125216_55-125215insAAAAAAAAAAAAAAAAAAAAAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62729023	C C	CAAACCAA others(16): Show CAAACCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0106 a0001c0002t0023g0106	1	144	0.0069	23	c.274 others(42): Show c.274-17909_274-17908insAAACCAAAAAAAAAAAAAAAAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6			chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62859508	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02257.hp2 HG02559.hp1 others(11): Show HG00423.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp2 HG02970.hp1 HG03579.hp2 HG03704.hp1 HG04184.hp1 NA18948.hp1 NA18948.hp2 NA18986.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0016 a0001c0002t0006 a0001c0002t0032 others(10): Show a0001c0001t0016 a0001c0002t0006 a0001c0002t0032 a0001c0002t0045 a0001c0002t0052 a0001c0002t0073 a0001c0002t0079 a0002c0003t0008 a0002c0003t0011 a0002c0003t0015 a0002c0003t0037 a0002c0003t0053 a0002c0003t0098	a0001c0001t0016g0026 a0001c0002t0006g0116 a0001c0002t0032g0037 others(11): Show a0001c0001t0016g0026 a0001c0002t0006g0116 a0001c0002t0032g0037 a0001c0002t0045g0020 a0001c0002t0052g0055 a0001c0002t0073g0118 a0001c0002t0079g0091 a0002c0003t0008g0112 a0002c0003t0008g0130 a0002c0003t0011g0043 a0002c0003t0015g0049 a0002c0003t0037g0014 a0002c0003t0053g0033 a0002c0003t0098g0136	14	144	0.0972	23	c.472 others(42): Show c.472-58932_472-58931insAAAAAAAAAAAAAAAAAAAAAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0078 a0001c0001t0082g0078	1	144	0.0069	23	c.472 others(42): Show c.472-34994_472-34993insGTTTTTTTTTTTTTTTTTTTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAP_chrX_119915672_119948751	119934454	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	320	0.0031	23	c.737 others(36): Show c.737+39_737+40insCTTTTTTTTTTTTTTTTTTTTTT	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	5/8			chrX	TogoVar
NLGN1_chr3_173392744_174299372	173539779	T T	TATATATG others(16): Show TATATATGTACATATATAACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG03098.hp2 others(1): Show HG01255.hp1 HG02055.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0005t0035	a0001c0001t0002g0007 a0001c0001t0003g0043 a0001c0001t0033g0044 others(1): Show a0001c0001t0002g0007 a0001c0001t0003g0043 a0001c0001t0033g0044 a0001c0005t0035g0016	4	44	0.0909	23	c.-32 others(44): Show c.-320-64483_-320-64482insACACACATATATGTACATATATA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	173600592	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0005 a0001c0001t0040g0005	1	44	0.0227	23	c.-32 others(42): Show c.-320-3678_-320-3677insTTTTTTTTTTTTTTTTTTTTTTT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6030392	A A	ATTGTGTG others(16): Show ATTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01517.hp2 HG02602.hp1 others(15): Show HG00423.hp2 HG01517.hp2 HG02602.hp1 HG03239.hp2 HG03710.hp1 HG04228.hp1 NA18612.hp1 NA18953.hp1 NA18961.hp1 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18988.hp1 NA19007.hp1 NA19065.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0005t0004	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0002g0027 a0001c0001t0002g0117 a0001c0001t0011g0108 a0001c0005t0004g0056	18	128	0.1406	23	c.473 others(38): Show c.473-961_473-960insCACACACACACACACACACACAA	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6125442	C C	CAACAATA others(16): Show CAACAATATACAACAAATAATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(51): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG02055.hp1 HG02135.hp1 HG02602.hp1 HG02698.hp1 HG02897.hp2 HG03139.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18988.hp1 NA18990.hp1 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19086.hp1 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0002t0003 a0001c0005t0004 a0001c0006t0001 a0001c0008t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0004g0002 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0009g0090 a0001c0001t0011g0108 a0001c0002t0003g0012 a0001c0002t0003g0046 a0001c0002t0003g0057 a0001c0002t0003g0081 a0001c0005t0004g0056 a0001c0006t0001g0088 a0001c0008t0001g0032 a0002c0007t0001g0124	54	128	0.4219	23	c.472 others(42): Show c.472+25530_472+25552dupTATATTATTTGTTGTATATTGTT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLN_chr5_65717205_65834283	65729318	G G	GTATCAAT others(16): Show GTATCAATTATTTGTACAAATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02965.hp2 others(4): Show HG02109.hp2 HG02280.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0015 a0001c0001t0047 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0047 a0002c0004t0007	a0001c0001t0002g0247 a0001c0001t0015g0250 a0001c0001t0015g0251 others(4): Show a0001c0001t0002g0247 a0001c0001t0015g0250 a0001c0001t0015g0251 a0001c0001t0047g0248 a0002c0004t0007g0245 a0002c0004t0007g0246 a0002c0004t0007g0249	7	336	0.0208	23	c.41+ others(38): Show c.41+6904_41+6905insTATCAATTATTTGTACAAATAAA	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	1/12			chr5	TogoVar
NLRC3_chr16_3534033_3582403	3569394	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0026 a0009c0020t0026	a0009c0020t0026g0343 a0009c0020t0026g0343	1	396	0.0025	23	c.-16 others(42): Show c.-168-2071_-168-2070insAAAAAAAAAAATATATATATATA	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32259262	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03492.hp1 HG03834.hp2 others(2): Show HG01257.hp2 HG03492.hp1 HG03834.hp2 HG03927.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0226 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0280	5	394	0.0127	23	c.-11 others(42): Show c.-118-2392_-118-2370dupAAAAAAAAAAAAAAAAAAAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0323 a0001c0003t0001g0324 a0001c0001t0001g0323 a0001c0003t0001g0324	2	394	0.0051	23	c.-11 others(42): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar

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